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Relevance to Autism

Recurrent mutations in the SHANK3 gene have been identified in multiple individuals with ASD as described below. SHANK3 lies within a multi-genic region on chromosome 22 that is deleted in Phelan-McDermid syndrome, a disorder which is frequently accompanied by ASD. De novo and inherited point mutations and copy number variants involving SHANK3 have been identified in individuals with ASD in multiple reports (PMIDs 17173049, 17999366, 18615476, 20186804, 20385823, 21378602, 21624971, 22558107, 22892527, 23758760), including de novo SHANK3 variants in PMIDs 17173049, 17999366 and 18615476 that were predicted to be loss-of-function variants or shown experimentally to disrupt SHANK3 function. An additional seven de novo loss-of-function variants in SHANK3 were identified in simplex ASD cases in Leblond et al., 2014 (PMID 25188300); in contrast, no truncating variants in SHANK3 were observed in 1,031 controls. Individuals with truncating SHANK3 variants were found to display ASD with moderate to severe/profound intellectual disability (mean IQ of 31 8) in this report. Furthermore, in a screen and meta-analysis of SHANK copy number variants in ASD, SHANK3 deletions were shown to be statistically enriched in ASD cases compared to controls [10/5,657 cases (0.18%) vs. 2/19,163 controls (0.01); P=0.019, OR=4.05 (1.26-13.01)] (PMID 25188300). This gene was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Multiple inconsistent associations have been reported with idiopathic ASD in other studies (PMIDs 19384346, 19566951, 22892527, 24398551, 27876814). De novo SHANK3 mutations in individuals with schizophrenia have also been reported in Gauthier et al., 2010 (PMID 20385823), and association of SHANK3 with schizophrenia has been reported as well (PMID 28371232).

Molecular Function

Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
ASD
Positive Association
Learning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism.
ASD
Positive Association
A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3.
ASD
Positive Association
A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chine...
ASD
Negative Association
Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities.
ASD
Negative Association
Association study of SHANK3 gene polymorphisms with autism in Chinese Han population.
ASD
Negative Association
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
ASD
Negative Association
Association between SHANK3 polymorphisms and susceptibility to autism spectrum disorder.
ASD
Negative Association
Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.
ASD
Negative Association
Association study of the CNS patterning genes and autism in Han Chinese in Taiwan.
ASD
Support
De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
Rett syndrome-like phenotype
DD, autistic features, stereotyped hand movements,
Support
Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development.
ASD
Support
Genome-wide characteristics of de novo mutations in autism.
ASD
Support
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
ID
Support
Genomic diagnosis for children with intellectual disability and/or developmental delay.
ID
Support
Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.
ASD, ID, epilepsy/seizures
Support
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.
ASD, SCZ
Support
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
ID, catatonia
Support
Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with aut...
ASD
ID, epilepsy
Support
Neurogenetic analysis of childhood disintegrative disorder.
Childhood disintegrative disorder
Support
Whole-genome sequencing of quartet families with autism spectrum disorder.
ASD
Support
Novel de novo SHANK3 mutation in autistic patients.
ASD
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
ID
Support
Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion.
BPD
ID
Support
Investigation of SHANK3 in schizophrenia.
SCZ
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD
Speech delay
Support
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
ASD
Support
Contribution of SHANK3 mutations to autism spectrum disorder.
ASD
Support
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
DD, ID, epilepsy/seizures
Support
High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.
Non-syndromic ASD
Support
SHANK proteins limit integrin activation by directly interacting with Rap1 andR-Ras.
Support
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
ASD
Support
Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder.
ASD
DD/ID
Support
Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum dis...
Childhood disintegrative disorder
Developmental regression
Support
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.
ASD, ID
Support
Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID.
ASD, ID
Support
SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.
Support
The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.
Epilepsy/seizures
Support
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
ASD, DD, ID
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Highly Cited
Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family.
Recent Recommendation
Shank3 deficiency induces NMDA receptor hypofunction via an actin-dependent mechanism.
Recent Recommendation
Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1.
Recent Recommendation
Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits.
Recent Recommendation
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
Phelan-McDermid syndrome
MR
Recent Recommendation
Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations.
Recent Recommendation
SHANK3 gene mutations associated with autism facilitate ligand binding to the Shank3 ankyrin repeat region.
ASD
Recent Recommendation
An architectural framework that may lie at the core of the postsynaptic density.
Recent Recommendation
Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruption...
Recent Recommendation
Synaptic cross-talk between N-methyl-D-aspartate receptors and LAPSER1-beta-catenin at excitatory synapses.
Recent Recommendation
An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function.
ASD
Recent Recommendation
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
ASD
ID, epilepsy/seizures
Recent Recommendation
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
ASD
Recent Recommendation
Disruption of glutamate receptors at Shank-postsynaptic platform in Alzheimer's disease.
Recent Recommendation
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.
Phelan-McDermid syndrome
ASD
Recent Recommendation
Shank3-Rich2 interaction regulates AMPA receptor recycling and synaptic long-term potentiation.
Recent Recommendation
Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing aut...
Recent Recommendation
ProSAPiP2, a novel postsynaptic density protein that interacts with ProSAP2/Shank3.
Recent Recommendation
Shank3 Is Part of a Zinc-Sensitive Signaling System That Regulates Excitatory Synaptic Strength.
Recent Recommendation
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.
ASD
Recent Recommendation
The PSD protein ProSAP2/Shank3 displays synapto-nuclear shuttling which is deregulated in a schizophrenia-associated mutation.
Recent Recommendation
Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.
ID
Recent Recommendation
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons.
Recent Recommendation
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction.
Recent Recommendation
Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.
Recent Recommendation
Heterogeneous dysregulation of microRNAs across the autism spectrum.
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
SCZ

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN230R001 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R002 
 frameshift_variant 
 c.3680insG 
 p.Ala1227Glyfs 
 De novo 
  
 Multiplex 
 GEN230R003 
 copy_number_loss 
  
  
  
  
  
 GEN230R004 
 copy_number_gain 
  
  
  
  
  
 GEN230R005 
 missense_variant 
 c.34C>T 
 p.Arg12Cys 
 Familial 
 Maternal 
 Multiplex 
 GEN230R006 
 missense_variant 
 c.593C>G 
 p.Ala198Gly 
 Familial 
 Maternal 
 Multiplex 
 GEN230R007 
 missense_variant 
 c.898C>T 
 p.Arg300Cys 
 Familial 
 Maternal 
 Simplex 
 GEN230R008 
 missense_variant 
 c.3032G>T 
 p.Gly1011Val 
 Familial 
  
 Unknown 
 GEN230R009 
 missense_variant 
  
 p.Arg1066Leu 
 Familial 
 Maternal 
 Simplex 
 GEN230R010 
 missense_variant 
 c.3692G>A 
 p.Arg1231His 
 Familial 
 Maternal 
 Multiplex 
 GEN230R011 
 missense_variant 
  
 p.Ser1566Gly 
 Familial 
 Paternal 
 Simplex 
 GEN230R012 
 stop_gained 
 c.3349C>T 
 p.Arg1117Ter 
 De novo 
  
 Multiplex 
 GEN230R013 
 missense_variant 
 c.1606C>T 
 p.Arg536Trp 
 De novo 
  
  
 GEN230R014 
 synonymous_variant 
 c.1023G>A 
 p.(=) 
  
  
  
 GEN230R015 
 missense_variant 
 c.1479C>G 
 p.His494Gln 
  
  
  
 GEN230R016 
 synonymous_variant 
 c.1893C>T 
 p.(=) 
  
  
  
 GEN230R017 
 synonymous_variant 
 c.2043C>G 
 p.(=) 
  
  
  
 GEN230R018 
 missense_variant 
 c.2856G>C 
 p.Ser952Thr 
  
  
  
 GEN230R019 
 missense_variant 
 c.3032G>T 
 p.Gly1011Val 
  
  
  
 GEN230R020 
 synonymous_variant 
 c.3066G>A 
 p.(=) 
  
  
  
 GEN230R021 
 missense_variant 
 c.3401C>A 
 p.Pro1134His 
  
  
  
 GEN230R022 
 synonymous_variant 
 c.3482T>C 
 p.(=) 
  
  
  
 GEN230R023 
 synonymous_variant 
 c.3558G>A 
 p.(=) 
  
  
  
 GEN230R024 
 missense_variant 
 c.962A>G 
 p.Gln321Arg 
 De novo 
  
 Simplex 
 GEN230R025 
 missense_variant 
 c.1022C>T 
 p.Ser341Leu 
 Familial 
 Paternal 
 Simplex 
 GEN230R026 
 missense_variant 
 c.2908G>T 
 p.Ala970Ser 
 Familial 
 Paternal 
 Simplex 
 GEN230R027 
 missense_variant 
 c.3517G>A 
 p.Ala1173Thr 
 Familial 
 Maternal 
 Multiplex 
 GEN230R028 
 missense_variant 
 c.3788C>T 
 p.Pro1263Leu 
 Familial 
 Paternal 
 Simplex 
 GEN230R029 
 missense_variant 
 c.4216C>G 
 p.Leu1406Val 
 Familial 
 Maternal 
 Multiplex 
 GEN230R030 
 missense_variant 
 c.4328T>C 
 p.Met1443Thr 
 Familial 
 Maternal 
 Simplex 
 GEN230R031 
 inframe_deletion 
 Del4358-4372 
 Del of 5 aa 
 Familial 
 Maternal 
 Multiplex 
 GEN230R032 
 missense_variant 
 c.4669G>A 
 p.Gly1557Ser 
 Familial 
 Paternal 
 Simplex 
 GEN230R033 
 missense_variant 
 c.4960C>A 
 p.Pro1654Thr 
 Familial 
 Paternal 
 Multiplex 
 GEN230R034 
 missense_variant 
 c.4960C>A 
 p.Pro1654Thr 
 Familial 
 Maternal 
 Multiplex 
 GEN230R035 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN230R036 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN230R037 
 copy_number_loss 
  
  
 De novo 
  
 Multiplex 
 GEN230R038 
 missense_variant 
 c.203T>C 
 p.Leu68Pro 
 Familial 
 Paternal 
 Simplex 
 GEN230R039 
 missense_variant 
 c.670G>A 
 p.Ala224Thr 
 Unknown 
  
 Unknown 
 GEN230R040 
 missense_variant 
 c.2161G>A 
 p.Ala721Thr 
 Unknown 
  
 Unknown 
 GEN230R041 
 splice_site_variant 
 c.2265C+1delG 
 p.Ser755SerfsTer1 
 De novo 
  
 Simplex 
 GEN230R042 
 missense_variant 
 c.3893G>A 
 p.Arg1298Lys 
 Familial 
 Maternal 
  
 GEN230R043 
 missense_variant 
 c.4960C>A 
 p.Pro1654Thr 
 Unknown 
  
 Unknown 
 GEN230R044 
 missense_variant 
 c.734T>C 
 p.Ile245Thr 
 Unknown 
  
 Unknown 
 GEN230R045 
 inframe_deletion 
 c.1320_1338del18 
 p.delGlyProGlyProAlaPro 
 Familial 
 Maternal 
  
 GEN230R046 
 missense_variant 
 c.1967G>A 
 p.Arg656His 
 Familial 
 Paternal 
  
 GEN230R047 
 intron_variant 
 N/A 
 N/A 
  
  
  
 GEN230R048 
 intron_variant 
 N/A 
 N/A 
  
  
  
 GEN230R049 
 intron_variant 
 N/A 
 N/A 
 De novo 
  
  
 GEN230R050 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN230R051 
 inframe_insertion 
 N/A 
 N/A 
  
  
  
 GEN230R052 
 missense_variant 
 c.734T>C 
 p.Ile245Thr 
  
  
  
 GEN230R053 
 missense_variant 
 c.3517G>A 
 p.Ala1173Thr 
  
  
  
 GEN230R054 
 missense_variant 
 c.3788G>T 
 p.Pro1263Leu 
  
  
  
 GEN230R055 
 synonymous_variant 
 c.750C>T 
 p.(=) 
  
  
  
 GEN230R056 
 synonymous_variant 
 c.1563G>A 
 p.(=) 
  
  
  
 GEN230R057 
 synonymous_variant 
 c.4446G>A 
 p.(=) 
  
  
  
 GEN230R058 
 synonymous_variant 
 c.4908C>T 
 p.(=) 
  
  
  
 GEN230R059 
 synonymous_variant 
 c.4935C>T 
 p.(=) 
  
  
  
 GEN230R060 
 synonymous_variant 
 c.483C>T 
 p.(=) 
  
  
  
 GEN230R061 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN230R062 
 copy_number_loss 
  
  
  
  
  
 GEN230R063 
 copy_number_loss 
  
  
  
  
  
 GEN230R064 
 copy_number_loss 
  
  
  
  
  
 GEN230R065 
 copy_number_loss 
  
  
  
  
  
 GEN230R066 
 copy_number_loss 
  
  
  
  
  
 GEN230R067 
 copy_number_loss 
  
  
  
  
  
 GEN230R068 
 copy_number_loss 
  
  
  
  
  
 GEN230R069 
 copy_number_loss 
  
  
  
  
  
 GEN230R070 
 copy_number_loss 
  
  
  
  
  
 GEN230R071 
 copy_number_loss 
  
  
  
  
  
 GEN230R072 
 copy_number_loss 
  
  
  
  
  
 GEN230R073 
 copy_number_loss 
  
  
  
  
  
 GEN230R074 
 copy_number_loss 
  
  
  
  
  
 GEN230R075 
 missense_variant 
 c.734T>C 
 p.Ile245Thr 
  
  
  
 GEN230R076 
 missense_variant 
 c.2161G>A 
 p.Ala721Thr 
  
  
  
 GEN230R077 
 synonymous_variant 
 c.2310G>A 
 p.(=) 
  
  
  
 GEN230R078 
 synonymous_variant 
 c.2997C>T 
 p.(=) 
  
  
  
 GEN230R079 
 synonymous_variant 
 c.3363C>T 
 p.(=) 
  
  
  
 GEN230R080 
 missense_variant 
 c.3999T>G 
 p.Val1333Gly 
  
  
  
 GEN230R081 
 synonymous_variant 
 c.4947C>T 
 p.(=) 
  
  
  
 GEN230R082 
 missense_variant 
 c.4960C>A 
 p.Pro1654Thr 
  
  
  
 GEN230R083 
 missense_variant 
 c.3581G>A 
 p.Gly1194Asp 
 Unknown 
  
 Simplex 
 GEN230R084 
 missense_variant 
 c.3715A>T 
 p.Ser1239Cys 
 Unknown 
  
 Simplex 
 GEN230R085 
 missense_variant 
 c.3893G>A 
 p.Arg1298Lys 
 Unknown 
  
 Simplex 
 GEN230R086 
 missense_variant 
 c.4018G>A 
 p.Ala1340Thr 
 Unknown 
  
 Simplex 
 GEN230R087 
 missense_variant 
 c.4621C>T 
 p.Pro1541Ser 
 Unknown 
  
 Simplex 
 GEN230R088 
 missense_variant 
 c.4673C>T 
 p.Ala1558Val 
 Unknown 
  
 Simplex 
 GEN230R089 
 missense_variant 
 c.4778A>T 
 p.Thr1593Ile 
 Unknown 
  
 Simplex 
 GEN230R090 
 missense_variant 
 c.4856G>A 
 p.Arg1619His 
 Unknown 
 Not paternal 
 Simplex 
 GEN230R091 
 missense_variant 
 c.4873A>T 
 p.Pro1625Ser 
 Unknown 
  
 Simplex 
 GEN230R092 
 missense_variant 
 c.4877C>T 
 p.Ser1626Lys 
 Unknown 
  
 Simplex 
 GEN230R093 
 missense_variant 
 c.4894G>A 
 p.Ala1632Thr 
 Unknown 
 Not paternal 
 Simplex 
 GEN230R094 
 missense_variant 
 c.4913G>A 
 p.Gly1638Asp 
 Unknown 
  
 Simplex 
 GEN230R095 
 missense_variant 
 c.4960C>A 
 p.Pro1654Thr 
 Unknown 
  
 Simplex 
 GEN230R096 
 synonymous_variant 
 c.522C>T 
 p.(=) 
  
  
 Multiplex 
 GEN230R097 
 missense_variant 
 c.612C>A 
 p.Asp204Glu 
  
  
 Multiplex 
 GEN230R098 
 missense_variant 
 c.763C>T 
 p.His255Tyr 
  
  
 Multiplex 
 GEN230R099 
 intron_variant 
 c.769-7C>G 
  
  
  
 Multiplex 
 GEN230R100 
 missense_variant 
 c.898C>T 
 p.Arg300Cys 
  
  
 Multiplex 
 GEN230R101 
 missense_variant 
 c.920C>G 
 p.Ala307Gly 
  
  
 Multiplex 
 GEN230R102 
 intron_variant 
 c.1031-14C>T 
  
  
  
 Multiplex 
 GEN230R103 
 synonymous_variant 
 c.1254G>A 
 p.(=) 
  
  
 Multiplex 
 GEN230R104 
 missense_variant 
 c.1315C>T 
 p.Pro439Ser 
  
  
 Multiplex 
 GEN230R105 
 synonymous_variant 
 c.1335G>T 
 p.(=) 
  
  
 Multiplex 
 GEN230R106 
 missense_variant 
 c.1337G>T 
 p.Gly446Val 
  
  
 Multiplex 
 GEN230R107 
 intron_variant 
 c.2077+10C>A 
  
  
  
 Multiplex 
 GEN230R108 
 intron_variant 
 c.2313+20G>A 
  
  
  
 Multiplex 
 GEN230R109 
 intron_variant 
 c.2398+11G>A 
  
  
  
 Multiplex 
 GEN230R110 
 synonymous_variant 
 c.249G>T 
 p.(=) 
  
  
 Multiplex 
 GEN230R111 
 synonymous_variant 
 c.3360C>T 
 p.(=) 
  
  
 Multiplex 
 GEN230R112 
 synonymous_variant 
 c.3708G>A 
 p.(=) 
  
  
 Multiplex 
 GEN230R113 
 missense_variant 
 c.3761C>T 
 p.Ala1254Val 
  
  
 Multiplex 
 GEN230R114 
 missense_variant 
 c.3764C>T 
 p.Pro1255Leu 
  
  
 Multiplex 
 GEN230R115 
 synonymous_variant 
 c.3765G>A 
 p.(=) 
  
  
 Multiplex 
 GEN230R116 
 missense_variant 
 c.3836C>T 
 p.Pro1279Leu 
  
  
 Multiplex 
 GEN230R117 
 missense_variant 
 c.4025C>T 
 p.Pro1342Leu 
  
  
 Multiplex 
 GEN230R118 
 synonymous_variant 
 c.4050C>T 
 p.(=) 
  
  
 Multiplex 
 GEN230R119 
 synonymous_variant 
 c.4368C>T 
 p.(=) 
  
  
 Multiplex 
 GEN230R120 
 missense_variant 
 c.4405G>C 
 p.Gly1469Arg 
  
  
 Multiplex 
 GEN230R121 
 missense_variant 
 c.4406G>T 
 p.Gly1469Val 
  
  
 Multiplex 
 GEN230R122 
 synonymous_variant 
 c.4479C>T 
 p.(=) 
  
  
 Multiplex 
 GEN230R123 
 missense_variant 
 c.4490G>A 
 p.Arg1497Gln 
  
  
 Multiplex 
 GEN230R124 
 synonymous_variant 
 c.4641C>T 
 p.(=) 
  
  
 Multiplex 
 GEN230R125 
 missense_variant 
 c.4720G>A 
 p.Gly1574Arg 
  
  
 Multiplex 
 GEN230R126 
 synonymous_variant 
 c.5106C>T 
 p.(=) 
  
  
 Multiplex 
 GEN230R127 
 splice_site_variant 
 del(G) 
 Splice-site 
 De novo 
  
  
 GEN230R128 
 missense_variant 
 c.1606C>T 
 p.Arg536Trp 
 De novo 
  
  
 GEN230R129 
 stop_gained 
 c.3349C>T 
 p.Arg1117Ter 
 De novo 
  
  
 GEN230R130 
 frameshift_variant 
 c.1339_1340insG 
 p.Ala447GlyfsTer57 
 Familial 
 Maternal 
  
 GEN230R131 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R132 
 frameshift_variant 
 c.1339_1340insG 
 p.Ala447fsTer503 
 Familial 
 Paternal 
 Possible multi-generational 
 GEN230R133 
 frameshift_variant 
 c.3931delG 
 p.Glu1311fsTer1401 
 Unknown (not maternal) 
  
  
 GEN230R134 
 missense_variant 
 c.421C>G 
 p.Pro141Ala 
 De novo 
  
  
 GEN230R135 
 splice_site_variant 
 c.1820-4G>A 
  
 Familial 
 Maternal 
  
 GEN230R136 
 missense_variant 
 c.4402G>T 
 p.Ala1468Ser 
 Unknown 
  
  
 GEN230R137 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN230R138 
 copy_number_loss 
  
  
 Unknown (not maternal) 
  
  
 GEN230R139 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R140 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R141 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R142 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R143 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R144 
 copy_number_loss 
  
  
 Unknown (not maternal) 
  
  
 GEN230R145 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R146 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R147 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R148 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R149 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R150 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R151 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R152 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R153 
 copy_number_loss 
  
  
 Unknown (not paternal) 
  
  
 GEN230R154 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R155 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R156 
 copy_number_loss 
  
  
 Unknown (not paternal) 
  
  
 GEN230R157 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R158 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R159 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R160 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R161 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R162 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R163 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R164 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R165 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R166 
 copy_number_loss 
  
  
 Unknown (not paternal) 
  
  
 GEN230R167 
 copy_number_loss 
  
  
 Unknown (not maternal) 
  
  
 GEN230R168 
 frameshift_variant 
 c.2497delG 
 p.Pro834ArgfsTer59 
 De novo 
  
  
 GEN230R169 
 stop_gained 
 c.1527G>A 
 p.Trp509Ter 
 De novo 
  
  
 GEN230R170 
 missense_variant 
 c.3169C>T 
 p.Leu1057Phe 
 Unknown 
  
 Unknown 
 GEN230R171 
 stop_gained 
 c.2425G>T 
 p.Glu809Ter 
 De novo 
  
 Simplex 
 GEN230R172 
 frameshift_variant 
 delCCCTG 
 p.Ala1076GlufsTer218 
 De novo 
  
 Simplex 
 GEN230R173 
 frameshift_variant 
 delCT 
 p.Leu1142ValfsTer153 
 De novo 
  
 Simplex 
 GEN230R174 
 frameshift_variant 
 delCCCT 
 p.Ser1202CysfsTer81 
 De novo 
  
 Simplex 
 GEN230R175 
 frameshift_variant 
 delGGGCCCAGCCCCC 
 p.Arg1255LeufsTer25 
 De novo 
  
 Simplex 
 GEN230R176 
 frameshift_variant 
 insGGCCA 
 p.Gly1271AlafsTer15 
 De novo 
  
 Simplex 
 GEN230R177 
 stop_gained 
 c.3727C>T 
 p.Gln1243Ter 
 De novo 
  
 Simplex 
 GEN230R178 
 frameshift_variant 
 delC 
 p.Pro1005ArgfsTer73 
 Unknown 
 Not maternal 
 Simplex 
 GEN230R179 
 frameshift_variant 
 delAG 
 p.Gly1339GlufsTer5 
 Unknown 
 Not maternal 
 Simplex 
 GEN230R180 
 inframe_deletion 
 delCCCGGCCCCGCG 
 p.Pro442_Ala445del 
 Unknown 
  
 Unknown 
 GEN230R181 
 missense_variant 
 c.1682C>T 
 p.Ser561Leu 
 Unknown 
  
 Unknown 
 GEN230R182 
 missense_variant 
 c.2254G>A 
 p.Ala752Thr 
 Unknown 
  
 Unknown 
 GEN230R183 
 missense_variant 
 c.2685T>C 
 p.Leu895Pro 
 Unknown 
  
 Unknown 
 GEN230R184 
 missense_variant 
 c.3032G>T 
 p.Gly1011Val 
 Unknown 
  
 Unknown 
 GEN230R185 
 missense_variant 
 c.3704C>A 
 p.Pro1235Gln 
 Unknown 
  
 Unknown 
 GEN230R186 
 missense_variant 
 c.3796G>A 
 p.Ala1266Thr 
 Unknown 
  
 Unknown 
 GEN230R187 
 missense_variant 
 c.3825A>T 
 p.Glu1275Asp 
 Unknown 
  
 Unknown 
 GEN230R188 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN230R189 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R190 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R191 
 stop_gained 
 c.1485G>A 
 p.Trp495Ter 
 De novo 
  
 Simplex 
 GEN230R192 
 frameshift_variant 
 c.1834_1835insGG 
 p.Thr612fs 
 Familial 
 Paternal 
 Multiplex 
 GEN230R193 
 missense_variant 
 c.2027G>A 
 p.Arg676His 
 Familial 
 Paternal 
 Simplex 
 GEN230R194 
 missense_variant 
 c.3866C>T 
 p.Pro1289Leu 
 Familial 
 Maternal 
 Simplex 
 GEN230R195 
 missense_variant 
 c.3869C>T 
 p.Ala1290Val 
 Familial 
 Maternal 
 Simplex 
 GEN230R196 
 stop_gained 
 c.1575C>A 
 p.Cys525Ter 
 Unknown 
  
 Unknown 
 GEN230R197 
 missense_variant 
 c.920C>G 
 p.Ala307Gly 
 Unknown 
  
 Unknown 
 GEN230R198 
 missense_variant 
 c.985T>A 
 p.Phe329Ile 
 Unknown 
  
 Unknown 
 GEN230R199 
 missense_variant 
 c.2024G>A 
 p.Arg675Gln 
 Unknown 
  
 Unknown 
 GEN230R200 
 missense_variant 
 c.4391G>A 
 p.Arg1464His 
 Unknown 
  
 Unknown 
 GEN230R201 
 missense_variant 
 c.2060G>T 
 p.Ser687Ile 
 Unknown 
  
 Unknown 
 GEN230R202 
 copy_number_loss 
  
  
 Unknown 
  
 Unknown 
 GEN230R203 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN230R204 
 frameshift_variant 
 c.925_926delAG 
 p.Arg309GlyfsTer21 
 De novo 
  
 Multiplex 
 GEN230R205 
 frameshift_variant 
 c.3259delC 
 p.Ser1088ProfsTer6 
 De novo 
  
 Multiplex 
 GEN230R206 
 frameshift_variant 
 c.2955_2970dup 
 p.Pro992ArgfsTer325 
 De novo 
  
 Simplex 
 GEN230R207 
 frameshift_variant 
 c.3100delC 
 p.Ala1034fsTer44 
 De novo 
  
 Simplex 
 GEN230R208 
 stop_gained 
 c.5008A>T 
 p.Lys1670Ter 
 Unknown 
 Not maternal 
  
 GEN230R209 
 copy_number_loss 
  
  
 Unknown 
 Not maternal 
  
 GEN230R210 
 missense_variant 
 c.3598G>C 
 p.Ala1200Pro 
 De novo 
  
 Simplex 
 GEN230R211 
 frameshift_variant 
 c.3727dup 
 p.Ala1243fs 
 De novo 
  
  
 GEN230R212 
 frameshift_variant 
 c.4491dupG 
 p.Leu1497fs 
 De novo 
  
 Simplex 
 GEN230R213 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN230R214 
 copy_number_loss 
  
  
 Unknown 
  
  
 GEN230R215 
 splice_site_variant 
 G>A 
 p.? 
 De novo 
  
 Simplex 
 GEN230R216 
 missense_variant 
 c.962A>G 
 p.Gln321Arg 
 De novo 
  
 Simplex 
 GEN230R217 
 frameshift_variant 
 c.2808dupC 
 p.Arg936fs 
 Unknown 
  
 Simplex 
 GEN230R218 
 frameshift_variant 
 delG 
  
 De novo (mosaic) 
  
 Multiplex 
 GEN230R219 
 missense_variant 
 c.484G>A 
 p.Ala162Thr 
 Unknown 
  
  
 GEN230R220 
 missense_variant 
 c.3032G>T 
 p.Gly1011Val 
 Unknown 
  
  
 GEN230R221 
 missense_variant 
 c.3067C>T 
 p.Arg1023Trp 
 Unknown 
  
  
 GEN230R222 
 missense_variant 
 c.3179C>G 
 p.Thr1060Ser 
 Unknown 
  
  
 GEN230R223 
 missense_variant 
 c.3568G>A 
 p.Asp1190Asn 
 Unknown 
  
  
 GEN230R224 
 missense_variant 
 c.3764G>A 
 p.Arg1255Gln 
 Unknown 
  
  
 GEN230R225 
 missense_variant 
 c.4385G>T 
 p.Arg1462Leu 
 Unknown 
  
  
 GEN230R226 
 missense_variant 
 c.4954G>A 
 p.Gly1652Ser 
 Unknown 
  
  
 GEN230R227 
 synonymous_variant 
 c.2889G>C 
 p.(=) 
 Unknown 
  
  
 GEN230R228 
 synonymous_variant 
 c.4947C>T 
 p.(=) 
 Unknown 
  
  
 GEN230R229 
 intron_variant 
 c.63+148G>A 
  
 Unknown 
  
  
 GEN230R230 
 3_prime_UTR_variant 
 c.*27C>T 
  
 Unknown 
  
  
 GEN230R231 
 missense_variant;missense_variant 
 G>A 
 p.[Gly277Arg];[Gly277Arg] 
 Familial 
 Both parents 
 Simplex 
 GEN230R232 
 missense_variant 
 c.1010C>G 
 p.Thr337Ser 
 De novo 
  
  
 GEN230R233 
 missense_variant 
 C>G 
 p.Arg1271Gly 
 De novo 
  
  
 GEN230R234 
 frameshift_variant;missense_variant 
 c.[2860dupC;3236C>T] 
 p.[Leu954Profs342;Pro1079Leu] 
 De novo 
  
  
 GEN230R235 
 frameshift_variant 
 c.2471delC 
 p.Pro824ArgfsTer69 
 De novo 
  
  
 GEN230R236 
 frameshift_variant 
 c.2946_2949delCCGC 
 p.Arg983SerfsTer94 
 De novo 
  
  
 GEN230R237 
 frameshift_variant 
 c.3095_3107delTGGGGGCCATCGA 
 p.Val1032GlyfsTer42 
 De novo 
  
  
 GEN230R238 
 frameshift_variant 
 c.3424_3425delCT 
 p.Leu1142ValfsTer153 
 De novo 
  
  
 GEN230R239 
 frameshift_variant 
 c.3679dupG 
 p.Ala1227GlyfsTer69 
 Unknown 
 Not paternal 
  
 GEN230R240 
 frameshift_variant 
 c.3679dupG 
 p.Ala1227GlyfsTer69 
 De novo 
  
  
 GEN230R241 
 frameshift_variant 
 c.3679dupG 
 p.Ala1227GlyfsTer69 
 De novo 
  
  
 GEN230R242 
 frameshift_variant 
 c.3764_3776delGGGCCCAGCCCCC 
 p.Arg1255LeufsTer25 
 De novo 
  
  
 GEN230R243 
 frameshift_variant 
 c.4065_4066delTG 
 p.Val1357GlyfsTer4 
 De novo 
  
 Multiplex (monozygotic twins) 
 GEN230R244 
 frameshift_variant 
 c.4229delC 
 p.Pro1410HisfsTer18 
 De novo 
  
  
 GEN230R245 
 frameshift_variant 
 c.4577_4578delCC 
 p.Ala1526GlufsTer16 
 De novo 
  
  
 GEN230R246 
 frameshift_variant 
 c.4906_4921dupTCCCCCTCGCCGTCGC 
 p.Pro1641LeufsTer58 
 De novo 
  
  
 GEN230R247 
 missense_variant 
 c.5014G>T 
 p.Asp1672Tyr 
 De novo 
  
  
 GEN230R248 
 missense_variant 
 c.3637A>G 
 p.Ser1213Gly 
 De novo 
  
 Simplex 
 GEN230R249 
 frameshift_variant 
 c.3630dupG 
 p.Leu1210fs 
 De novo 
  
 Simplex 
 GEN230R250 
 frameshift_variant 
 c.3424_3425del 
 p.Leu1142fs 
 De novo 
  
  
 GEN230R251 
 frameshift_variant 
 c.3679dupG 
 p.Ala1227fs 
 Unknown 
  
 Multi-generational 
 GEN230R252 
 frameshift_variant 
 c.3679dupG 
 p.Ala1227fs 
 De novo 
  
  
 GEN230R253 
 missense_variant 
 c.593C>G 
 p.Ala198Gly 
 Unknown 
  
  
 GEN230R254 
 missense_variant 
 c.898C>T 
 p.Pro300Ser 
 Unknown 
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN230C001 
 intron_variant 
 rs76224556 
 c.1304+48C>T 
  
 Case cohort of 221 ASD patients (133 from South Caroline Autism Project/SCAP, 88 from Italy); control cohort of 982 individuals 
 Discovery 
 GEN230C002 
 missense_variant 
 rs9616915 
 c.734T>C 
 p.Ile245Thr 
 Case cohort of 212 ASD patients; control cohort of 636 controls (Chinese) 
 Discovery 
 GEN230C003 
 intron_variant 
 rs5770820 
 c.2134+407G>A 
  
 Simons Simplex Collection (SSC) GWAS dataset consisting of 2591 simplex ASD families 
 Discovery 
 GEN230C004 
 intron_variant 
 rs140201628 
 c.886-60C>G 
  
 Discovery: 500 German schizophrenia cases (273 males, 227 females, mean age at inclusion=34.4 11 years), 4300 European controls from the Exome Variant Server 
 Discovery 
 GEN230C005 
 intron_variant 
 rs1557620 
 c.1612+18T>C 
  
 Discovery: 500 German schizophrenia cases (273 males, 227 females, mean age at inclusion=34.4 11 years), 503 European controls from the 1000 Genomes Project, and 4300 European controls from the Exome Variant Server 
 Discovery 
 GEN230C006 
 synonymous_variant 
 rs147941361 
 c.1797G>A 
 p.(=) 
 Discovery: 500 German schizophrenia cases (273 males, 227 females, mean age at inclusion=34.4 11 years), 4300 European controls from the Exome Variant Server 
 Discovery 
 GEN230C007 
 missense_variant 
 rs61729471 
 c.2161G>A 
 p.Ala721Thr 
 Discovery: 500 German schizophrenia cases (273 males, 227 females, mean age at inclusion=34.4 11 years), 503 European controls from the 1000 Genomes Project, and 4300 European controls from the Exome Variant Server 
 Discovery 
 GEN230C008 
 synonymous_variant 
 rs557669600 
 c.4947C>T 
 p.(=) 
 Discovery: 500 German schizophrenia cases (273 males, 227 females, mean age at inclusion=34.4 11 years), 503 European controls from the 1000 Genomes Project, and 4300 European controls from the Exome Variant Server 
 Discovery 
 GEN230C009 
 intron_variant 
 rs6010065 
 c.2351-595G>C 
  
 422 ASD cases and 182 typically-developing controls (CHOP) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Duplication
 1
 
22
Deletion-Duplication
 9
 
22
Deletion
 1
 
22
Deletion-Duplication
 16
 
22
Deletion-Duplication
 21
 
22
Duplication
 24
 
22
Deletion-Duplication
 54
 

Model Summary

Knockout of shank3b results in a number of developmental and behavioral deficits. During early larval development (1-7 days post fertilization), shank3b-mutant zebrafish show increased lethality, abnormal morphological changes (tail bending, reduction of melanin content in eye), decrease in locomotor activity, and decreased startle response. Adult shank3b-mutant zebrafish continue to exhibit deficits in locomotor behavior, as well as show increased repetitive behaviors, decreased shoaling behavior as well as decreased kin preference. Moreover, they show decreased levels of proteins homer1 and synaptophysin, indicating persistent changes in synaptic function.

References

Type
Title
Author, Year
Primary
Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruption...
Primary
CRISPR/Cas9-induced shank3b mutant zebrafish display autism-like behaviors.

Z_shank3b_1_KD_TG

Model Type: Genetic
Model Genotype: Other
Mutation: Splice-inhibiting shank3b morpholino oligonucleotides (MO) designed at shank3b exon10/intron10 boundary were injected into one-cell zygotes of transgenic lines Tg vglut2:dsRed and Tg SaigFF213A. Vglut2 marks excitatory neurons and SaigFF213A marks Caudal Primary (CaP) motor neurons and Rohon-Beard (Rb) sensory neurons. The shank3b MO targets the exon 10/intron 10 splice-junction, produces intron retention and would be predicted to truncate the protein within the sixth ankyrin repeat. 30 ng of the shank3b MO was injected.
Allele Type: Targeted
Strain of Origin: Tg vglut2:dsRed or Tg SaigFF213A transgenic report
Genetic Background: Tg vglut2:dsRed or Tg SaigFF213A transgenic reporter line
ES Cell Line: Tg vglut2:dsRed or Tg SaigFF213A transgenic reporter line embryos
Mutant ES Cell Line: Tg vglut2:dsRed or Tg SaigFF213A transgenic reporter line embryos
Model Source: Unreported

Z_shank3b_1_KD_TG_30ng

Model Type: Genetic
Model Genotype: Other
Mutation: Splice-inhibiting shank3b morpholino oligonucleotides (MO) designed at shank3b exon10/intron10 boundary were injected into one-cell zygotes of transgenic lines Tg vglut2:dsRed and Tg SaigFF213A. Vglut2 marks excitatory neurons and SaigFF213A marks Caudal Primary (CaP) motor neurons and Rohon-Beard (Rb) sensory neurons. The shank3b MO targets the exon 10/intron 10 splice-junction, produces intron retention and would be predicted to truncate the protein within the sixth ankyrin repeat. 30 ng of the shank3b MO was injected.
Allele Type: Targeted
Strain of Origin: Tg vglut2:dsRed or Tg SaigFF213A transgenic report
Genetic Background: Tg vglut2:dsRed or Tg SaigFF213A transgenic reporter line
ES Cell Line: Tg vglut2:dsRed or Tg SaigFF213A transgenic reporter line embryos
Mutant ES Cell Line: Tg vglut2:dsRed or Tg SaigFF213A transgenic reporter line embryos
Model Source: Unreported

Z_shank3b_2_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Mutant zebrafish were generated using CRISPR/Cas9 editing. Specifically, fish were injected with 500pg of Cas9 mRNA and 120pg of gRNA. Zebrafish were then screened to identify a founder and chimeric zebrafish were mated onto a Tu background for three generations to obtain shank3b+/- zebrafish. Shank3b+/- males and shank3b+/- females were subsequently crossed to obtain shank3b null mutants.
Allele Type: Loss-of-function
Strain of Origin: Tu
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

Z_shank3b_3_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Mutant zebrafish were generated using CRISPR/Cas9 editing. Specifically, fish were injected with 500pg of Cas9 mRNA and 120pg of gRNA. Zebrafish were then screened to identify a founder and chimeric zebrafish were mated onto a Tu background for three generations to obtain shank3b+/- zebrafish. Shank3b+/- males and shank3b+/- females were subsequently crossed to obtain shank3b+/??mutants.
Allele Type: Loss-of-function
Strain of Origin: Tu
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

Z_shank3b_4_TG_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Mutant zebrafish were generated using CRISPR/Cas9 editing in HuC-RFP transgenic line. Specifically, fish were injected with 500pg of Cas9 mRNA and 120pg of gRNA and then screened to identify a founder. Chimeric zebrafish were mated to obtain shank3b+/- zebrafish. Shank3b+/- males and shank3b+/- females were subsequently crossed to obtain shank3b-/- mutants.
Allele Type: Loss-of-function
Strain of Origin: Tu
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

Z_shank3b_1_KD_TG

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: Morphants show increased mortality compared to controls.
Exp Paradigm: Percentage of animals dead was recorded.
 General observations
 Larva
Targeted expression1
Decreased
Description: Morphants show complete disruption of Shank3b transcript expression compared to controls, without affecting the expression of the other ohnologs.
 Semi-quantitative PCR (qRT-PCR)
 Larva
Gene expression1
 No change
 Semi-quantitative PCR (qRT-PCR)
 Larva
Swimming ability1
 No change
 Swim test
 Larva
Seizures1
 No change
 General observations
 Larva
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Sensory, Social behavior

Z_shank3b_1_KD_TG_30ng

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality1
Increased
Description: Morphants show increased mortality compared to controls.
Exp Paradigm: Percentage of animals dead was recorded.
 General observations
 Larva
Targeted expression1
Decreased
Description: Morphants show complete disruption of Shank3b transcript expression compared to controls, without affecting the expression of the other ohnologs.
 Semi-quantitative PCR (qRT-PCR)
 Larva
Gene expression1
 No change
 Semi-quantitative PCR (qRT-PCR)
 Larva
Swimming ability1
 No change
 Swim test
 Larva
Seizures1
 No change
 General observations
 Larva
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Sensory, Social behavior

Z_shank3b_2_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Decreased
Description: shank3b mutant zebrafish larvae showed a significant decrease in locomotor activity at higher intensity levels compared to controls at 5dpf. shank3b mutant zebrafish larvae showed a significant decrease in locomotor activity at all intensity levels compared to controls at 7dpf.
Exp Paradigm: Spontaneous activity frequency
 General observations
 5, 7 dpf
Swimming ability1
Decreased
Description: shank3b mutant zebrafish larvae showed a significant decrease in locomotor activity at higher intensity levels compared to controls.
Exp Paradigm: Swimming velocity
 General observations
 3.5 mpf
General locomotor activity: Ambulatory activity1
Decreased
Description: shank3b mutant zebrafish larvae showed a significant decrease in distance traveled compared to controls.
Exp Paradigm: Distance traveled
 General observations
 5 dpf
Brain size1
Increased
Description: shank3b mutant zebrafish showed an increase in brain size compared to controls.
Exp Paradigm: Size, measured in mm
 Gross necroscopy
 6 mpf
Stereotypy1
Increased
Description: shank3b mutant zebrafish showed an increase in repetitive stereotypic figure 8 swimming compared to controls.
 General observations
 3.5 mpf
Circling1
Increased
Description: shank3b mutant zebrafish showed an increase in repetitive circling compared to controls. Specifically, mutants showed a significant increase in big circling and a trend in increased small circling compared to controls.
 General observations
 3.5 mpf
Startle response1
Decreased
Description: shank3b mutant zebrafish larvae showed an overall decrease in startle response measured as distance traveled following sudden light-to-dark or dark-to-light transitions compared to controls.
Exp Paradigm: Distance traveled
 General observations
 7 dpf
Social cohesion: kin preference1
Decreased
Description: shank3b mutant zebrafish showed a decrease in kin preference compared to controls.
Exp Paradigm: Measured in time spent in kin vs non-kin zone.
 Shoaling assay
 3.5 mpf
Social cohesion: Shoaling behavior1
Decreased
Description: shank3b mutant zebrafish showed a decrease in shoaling behavior, measured by inter-fish distance, as well as time and distance ratio in the conspecific sector, compared to controls.
 Shoaling assay
 3.5 mpf
Developmental trajectory1
Decreased
Description: shank3b mutant zebrafish larvae showed neurodevelopmental delay compared to controls.
 General observations
 1 dpf
Skeletal development: Appendages (limbs, digits, tail)1
Abnormal
Description: shank3b mutant zebrafish larvae showed morphological changes including tail bending compared to controls.
 General observations
 1 dpf
Mortality/lethality1
Increased
Description: shank3b mutant zebrafish larvae showed an increase in lethality compared to controls.
 General observations
 1 dpf
Eye development: pigmentation1
Decreased
Description: shank3b mutant zebrafish larvae showed reduced eye pigmentation compared to controls.
 General observations
 1 dpf
Thigmotaxis1
Decreased
Description: shank3b mutant zebrafish showed a decrease in thigmotaxis compared to controls.
Exp Paradigm: Measured in percentage of time spent and the distance traveled in the center vs. the peripheral zones.
 General observations
 3.5 mpf
Targeted expression1
Decreased
Description: shank3b mutant zebrafish showed a decrease in shank3b expression compared to controls.
 Quantitative PCR (qRT-PCR)
 6 mpf
Protein expression level evidence1
Decreased
Description: shank3b mutant zebrafish showed a decrease in levels of homer1 and synaptophysin1 proteins compared to controls.
 Western blot
 3.5 mpf
Size/growth1
 No Change
 Body length measurement
 3 dpf, 6 mpf
Thigmotaxis1
 No Change
 General observations
 3.5 mpf
Gene expression1
 No Change
 Quantitative PCR (qRT-PCR)
 6 mpf
General locomotor activity1
 No Change
 General observations
 2 dpf
Brain size1
 No Change
 Measurement of tissue weight
 6 mpf
 Not Reported: Circadian sleep/wake cycle, Communications, Homeostasis, Immune response, Learning & memory, Maternal behavior, Neurophysiology, Seizure, Sensory

Z_shank3b_3_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: Ambulatory activity1
Decreased
Description: shank3b mutant zebrafish larvae showed a significant decrease in distance traveled compared to controls.
Exp Paradigm: Distance traveled
 General observations
 5 dpf
General locomotor activity1
Decreased
Description: shank3b mutant zebrafish larvae showed a significant decrease in locomotor activity at higher intensity levels compared to controls at 5dpf. shank3b mutant zebrafish larvae showed a significant decrease in locomotor activity at all intensity levels compared to controls at 7dpf.
Exp Paradigm: Spontaneous activity frequency
 General observations
 5, 7 dpf
Startle response1
Decreased
Description: shank3b mutant zebrafish larvae showed an overall decrease in startle response measured as distance traveled following sudden light-to-dark or dark-to-light transitions compared to controls.
Exp Paradigm: Distance traveled
 General observations
 7 dpf
Developmental trajectory1
Decreased
Description: shank3b mutant zebrafish larvae showed neurodevelopmental delay compared to controls.
 General observations
 1 dpf
Skeletal development: Appendages (limbs, digits, tail)1
Abnormal
Description: shank3b mutant zebrafish larvae showed morphological changes including tail bending compared to controls.
 General observations
 1 dpf
Mortality/lethality1
Increased
Description: shank3b mutant zebrafish larvae showed an increase in lethality compared to controls.
 General observations
 1 dpf
Eye development: pigmentation1
Decreased
Description: shank3b mutant zebrafish larvae showed reduced eye pigmentation compared to controls.
 General observations
 1 dpf
Size/growth1
 No Change
 Body length measurement
 3 dpf, 6 mpf
General locomotor activity1
 No Change
 General observations
 2 dpf
Brain size1
 No Change
 Gross necroscopy
 6 mpf
Brain size1
 No Change
 Measurement of tissue weight
 6 mpf
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior

Z_shank3b_4_TG_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain development1
Decreased
Description: shank3b mutant zebrafish larvae showed a decrease in neurodevelopment compared to controls.
 Immunofluorescence staining: HuC-RFP
 1-3 dpf
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ABI2 abl-interactor 2 10152 Q9NYB9 Y2H
Sakai Y , et al. 2011
ACTN1 actinin, alpha 1 87 P12814 Y2H; IP/WB; GST
Sakai Y , et al. 2011
ACTN2 actinin, alpha 2 88 P35609 Y2H
Sakai Y , et al. 2011
AGAP7 ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 653268 Q5VUJ5 Y2H
Sakai Y , et al. 2011
ALDOA aldolase A, fructose-bisphosphate 226 P04075 Y2H
Sakai Y , et al. 2011
ANKRD35 ankyrin repeat domain 35 148741 Q8N283 Y2H
Sakai Y , et al. 2011
APP amyloid beta (A4) precursor protein 351 P05067 Y2H
Sakai Y , et al. 2011
ARPC2 actin related protein 2/3 complex, subunit 2, 34kDa 10109 O15144 Y2H
Sakai Y , et al. 2011
ARPC5L actin related protein 2/3 complex, subunit 5-like 81873 Q9BPX5 Y2H
Sakai Y , et al. 2011
ATN1 atrophin 1 1822 P54259 Y2H
Sakai Y , et al. 2011
C1QBP complement component 1, q subcomponent binding protein 708 Q07021 Y2H
Sakai Y , et al. 2011
C6orf154 chromosome 6 open reading frame 154 221424 Q5JTD7 Y2H
Sakai Y , et al. 2011
CA10 carbonic anhydrase X 56934 Q9NS85 Y2H
Sakai Y , et al. 2011
CALCOCO1 calcium binding and coiled-coil domain 1 57658 Q9P1Z2 Y2H
Sakai Y , et al. 2011
CAMK2B calcium/calmodulin-dependent protein kinase II beta 816 Q13554 Y2H
Sakai Y , et al. 2011
CCT3 chaperonin containing TCP1, subunit 3 (gamma) 7203 P49368 Y2H
Sakai Y , et al. 2011
CENPJ centromere protein J 55835 Q9HC77 Y2H
Sakai Y , et al. 2011
CEP72 centrosomal protein 72kDa 55722 Q9P209 Y2H
Sakai Y , et al. 2011
CLTA clathrin, light chain A 1211 P09496 Y2H
Sakai Y , et al. 2011
CLU clusterin 1191 P10909 Y2H
Sakai Y , et al. 2011
COPS6 COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) 10980 Q7L5N1 Y2H
Sakai Y , et al. 2011
COQ5 coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 84274 Q5HYK3 Y2H
Sakai Y , et al. 2011
CRELD1 cysteine-rich with EGF-like domains 1 78987 Q96HD1 Y2H
Sakai Y , et al. 2011
CSNK1D casein kinase 1, delta 1453 P48730 Y2H
Sakai Y , et al. 2011
CTNND2 catenin (cadherin-associated protein), delta 2 1501 Q9UQB3 IP/WB
Quitsch A , et al. 2005
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1 1595 Q16850 Y2H
Sakai Y , et al. 2011
CYTIP cytohesin 1 interacting protein 9595 O60759 Y2H
Sakai Y , et al. 2011
DCTN2 dynactin 2 (p50) 10540 Q13561 Y2H
Sakai Y , et al. 2011
DDB1 damage-specific DNA binding protein 1, 127kDa 1642 Q16531 Y2H
Sakai Y , et al. 2011
DNAJA3 DnaJ (Hsp40) homolog, subfamily A, member 3 9093 Q96EY1 Y2H
Sakai Y , et al. 2011
DNM2 dynamin 2 1785 P50570 Y2H
Sakai Y , et al. 2011
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 2202 Q12805 Y2H
Sakai Y , et al. 2011
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2 30008 O95967 Y2H
Sakai Y , et al. 2011
EID1 EP300 interacting inhibitor of differentiation 1 23741 Q9Y6B2 Y2H
Sakai Y , et al. 2011
ELAVL1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) 1994 Q15717 Y2H
Sakai Y , et al. 2011
ERI3 ERI1 exoribonuclease family member 3 79033 O43414 Y2H
Sakai Y , et al. 2011
FAM13A family with sequence similarity 13, member A 10144 O94988 Y2H
Sakai Y , et al. 2011
FAM92A1 family with sequence similarity 92, member A1 137392 A1XBS5 Y2H
Sakai Y , et al. 2011
FBXO7 F-box protein 7 25793 Q9Y3I1 Y2H
Sakai Y , et al. 2011
FKBP8 FK506 binding protein 8, 38kDa 23770 Q14318 Y2H
Sakai Y , et al. 2011
FLNA filamin A, alpha 2316 P21333 Y2H; IP/WB; GST
Sakai Y , et al. 2011
FRS3 fibroblast growth factor receptor substrate 3 10817 O43559 Y2H
Sakai Y , et al. 2011
FRYL FRY-like 285527 O94915 Y2H
Sakai Y , et al. 2011
GAPDH glyceraldehyde-3-phosphate dehydrogenase 2597 P04406 Y2H
Sakai Y , et al. 2011
GOT1 glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) 2805 P17174 Y2H
Sakai Y , et al. 2011
GPR162 G protein-coupled receptor 162 27239 Q16538 Y2H
Sakai Y , et al. 2011
GPS1 G protein pathway suppressor 1 2873 Q13098 Y2H
Sakai Y , et al. 2011
GRN granulin 2896 P28799 Y2H
Sakai Y , et al. 2011
HAGH hydroxyacylglutathione hydrolase 3029 Q16775 Y2H
Sakai Y , et al. 2011
HCN1 hyperpolarization activated cyclic nucleotide-gated potassium channel 1 348980 O60741 IP/WB
Yi F , et al. 2016
HCN2 hyperpolarization activated cyclic nucleotide-gated potassium channel 2 610 Q9UL51 IP/WB
Yi F , et al. 2016
HCN3 hyperpolarization activated cyclic nucleotide gated potassium channel 3 57657 Q9P1Z3 IP/WB
Yi F , et al. 2016
HECW1 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 23072 Q76N89 Y2H
Sakai Y , et al. 2011
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 9146 O14964 Y2H
Sakai Y , et al. 2011
HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) 3183 P07910 Y2H; GST
Sakai Y , et al. 2011
HNRNPK heterogeneous nuclear ribonucleoprotein K 3190 P61978 Y2H
Sakai Y , et al. 2011
ICA1 islet cell autoantigen 1, 69kDa 3382 Q05084 Y2H
Sakai Y , et al. 2011
IGSF9 immunoglobulin superfamily, member 9 57549 Q9P2J2 Y2H
Sakai Y , et al. 2011
ITGBL1 integrin, beta-like 1 (with EGF-like repeat domains) 9358 O95965 Y2H
Sakai Y , et al. 2011
ITSN1 intersectin 1 (SH3 domain protein) 6453 Q15811 Y2H
Sakai Y , et al. 2011
JAG2 jagged 2 3714 Q9Y219 Y2H
Sakai Y , et al. 2011
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1 10657 Q07666 Y2H
Sakai Y , et al. 2011
KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3 10656 O75525 Y2H; GST
Sakai Y , et al. 2011
KIAA0232 KIAA0232 9778 Q92628 Y2H
Sakai Y , et al. 2011
LINGO1 leucine rich repeat and Ig domain containing 1 84894 Q96FE5 Y2H
Sakai Y , et al. 2011
LOC727948 LOC727948similar to KIAA0454 protein 727948 N/A Y2H
Sakai Y , et al. 2011
LPHN1 latrophilin 1 22859 O94910 Y2H
Sakai Y , et al. 2011
LRRC7 leucine rich repeat containing 7 57554 Q96NW7 IP/WB
Quitsch A , et al. 2005
LTBP3 latent transforming growth factor beta binding protein 3 4054 Q9NS15 Y2H
Sakai Y , et al. 2011
LTBP4 latent transforming growth factor beta binding protein 4 8425 Q8N2S1 Y2H
Sakai Y , et al. 2011
MBIP MAP3K12 binding inhibitory protein 1 51562 Q9NS73 Y2H
Sakai Y , et al. 2011
MBOAT7 membrane bound O-acyltransferase domain containing 7 79143 Q96N66 Y2H
Sakai Y , et al. 2011
MCRS1 microspherule protein 1 10445 Q96EZ8 Y2H
Sakai Y , et al. 2011
MDH2 malate dehydrogenase 2, NAD (mitochondrial) 4191 P40926 Y2H
Sakai Y , et al. 2011
MEGF10 multiple EGF-like-domains 10 84466 Q96KG7 Y2H
Sakai Y , et al. 2011
MEGF11 multiple EGF-like-domains 11 84465 A6BM72 Y2H
Sakai Y , et al. 2011
MEGF6 multiple EGF-like-domains 6 1953 O75095 Y2H
Sakai Y , et al. 2011
MIPOL1 mirror-image polydactyly 1 145282 Q8TD10 Y2H
Sakai Y , et al. 2011
MT-CO2 Cytochrome c oxidase subunit 2 4513 P00403 Y2H
Sakai Y , et al. 2011
MT-ND6 mitochondrially encoded NADH dehydrogenase 6 4541 P03923 Y2H
Sakai Y , et al. 2011
MYO5B myosin VB 4645 Q9ULV0 Y2H
Sakai Y , et al. 2011
N4BP3 NEDD4 binding protein 3 23138 O15049 Y2H
Sakai Y , et al. 2011
NCKIPSD NCK interacting protein with SH3 domain 51517 Q9NZQ3 Y2H
Sakai Y , et al. 2011
NEFL neurofilament, light polypeptide 4747 P07196 Y2H
Sakai Y , et al. 2011
NELL2 NEL-like 2 (chicken) 4753 Q99435 Y2H; GST
Sakai Y , et al. 2011
NGRN neugrin, neurite outgrowth associated 51335 Q9NPE2 Y2H
Sakai Y , et al. 2011
NOTCH1 notch 1 4851 P46531 Y2H
Sakai Y , et al. 2011
NOTCH2 notch 2 4853 Q04721 Y2H
Sakai Y , et al. 2011
NOTCH2NL notch 2 N-terminal like 388677 Q7Z3S9 Y2H
Sakai Y , et al. 2011
NOTCH3 notch 3 4854 Q9UM47 Y2H
Sakai Y , et al. 2011
NR1D1 nuclear receptor subfamily 1, group D, member 1 9572 P20393 Y2H
Sakai Y , et al. 2011
NRBF2 nuclear receptor binding factor 2 29982 Q96F24 Y2H
Sakai Y , et al. 2011
PDHB pyruvate dehydrogenase (lipoamide) beta 5162 P11177 Y2H
Sakai Y , et al. 2011
PFKL phosphofructokinase, liver 5211 P17858 Y2H
Sakai Y , et al. 2011
PHF12 PHD finger protein 12 57649 Q96QT6 Y2H
Sakai Y , et al. 2011
PHLDB1 pleckstrin homology-like domain, family B, member 1 23187 Q86UU1 Y2H
Sakai Y , et al. 2011
PICK1 protein interacting with PRKCA 1 9463 Q9NRD5 Y2H; GST
Sakai Y , et al. 2011
PLEKHA4 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 57664 Q9H4M7 Y2H
Sakai Y , et al. 2011
PPHLN1 periphilin 1 51535 Q8NEY8 Y2H
Sakai Y , et al. 2011
PPP1R13L protein phosphatase 1, regulatory (inhibitor) subunit 13 like 10848 Q8WUF5 Y2H
Sakai Y , et al. 2011
PPP1R9B protein phosphatase 1, regulatory (inhibitor) subunit 9B 84687 Q96SB3 Y2H
Sakai Y , et al. 2011
PPP2R3B protein phosphatase 2, regulatory subunit B'', beta 28227 Q9Y5P8 Y2H
Sakai Y , et al. 2011
PRMT2 protein arginine methyltransferase 2 3275 P55345 Y2H
Sakai Y , et al. 2011
PRMT2 protein arginine methyltransferase 2 3275 P55345 IP; LC-MS/MS
Huttlin EL , et al. 2015
PSMD4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 5710 P55036 Y2H; GST
Sakai Y , et al. 2011
QSOX1 quiescin Q6 sulfhydryl oxidase 1 5768 O00391 Y2H
Sakai Y , et al. 2011
RBM5 RNA binding motif protein 5 10181 P52756 Y2H
Sakai Y , et al. 2011
Ret ret proto-oncogene 19713 P35546 Y2H; IP/WB
Schuetz G , et al. 2004
RICH2 Rho GTPase-activating protein 44 9912 Q17R89 Y2H
Sakai Y , et al. 2011
RNMTL1 RNA methyltransferase like 1 55178 Q9HC36 Y2H
Sakai Y , et al. 2011
RPL3 ribosomal protein L3 6122 P39023 Y2H
Sakai Y , et al. 2011
RTN3 reticulon 3 10313 O95197 Y2H
Sakai Y , et al. 2011
RUNDC3A RUN domain containing 3A 10900 Q59EK9 Y2H
Sakai Y , et al. 2011
SCYL3 SCY1-like 3 (S. cerevisiae) 57147 Q8IZE3 Y2H
Sakai Y , et al. 2011
SETD2 SET domain containing 2 29072 Q9BYW2 Y2H
Sakai Y , et al. 2011
SFRS9 serine/arginine-rich splicing factor 9 8683 Q13242 Y2H
Sakai Y , et al. 2011
SH3GL2 SH3-domain GRB2-like 2 6456 Q99962 Y2H
Sakai Y , et al. 2011
SH3GL3 SH3-domain GRB2-like 3 6457 Q99963 Y2H
Sakai Y , et al. 2011
SHANK1 SH3 and multiple ankyrin repeat domains 1 50944 Q9Y566 Y2H; IP/WB
Sakai Y , et al. 2011
SHARPIN SHANK-associated RH domain interactor 81858 Q9H0F6 Y2H
Sakai Y , et al. 2011
SIPA1 signal-induced proliferation-associated 1 6494 Q96FS4 Y2H
Sakai Y , et al. 2011
SIRT2 sirtuin 2 22933 Q8IXJ6 Y2H; GST
Sakai Y , et al. 2011
SLC48A1 solute carrier family 48 (heme transporter), member 1 55652 Q6P1K1 Y2H
Sakai Y , et al. 2011
SNRPN small nuclear ribonucleoprotein polypeptide N 6638 P63162 Y2H
Sakai Y , et al. 2011
SORBS2 sorbin and SH3 domain containing 2 8470 O94875 Y2H
Sakai Y , et al. 2011
SORBS3 sorbin and SH3 domain containing 3 10174 O60504 Y2H
Sakai Y , et al. 2011
SPAG5 sperm associated antigen 5 10615 Q96R06 Y2H
Sakai Y , et al. 2011
STK32C serine/threonine kinase 32C 282974 Q86UX6 Y2H
Sakai Y , et al. 2011
SYNGAP1 synaptic Ras GTPase activating protein 1 8831 Q96PV0 Y2H
Sakai Y , et al. 2011
SYT5 synaptotagmin V 6861 O00445 Y2H
Sakai Y , et al. 2011
TCF25 transcription factor 25 (basic helix-loop-helix) 22980 Q9BQ70 Y2H
Sakai Y , et al. 2011
TDRD7 tudor domain containing 7 23424 Q8NHU6 Y2H
Sakai Y , et al. 2011
TFIP11 tuftelin interacting protein 11 24144 Q9UBB9 Y2H
Sakai Y , et al. 2011
THRAP3 thyroid hormone receptor associated protein 3 9967 Q9Y2W1 Y2H
Sakai Y , et al. 2011
TMEM14C transmembrane protein 14C 51522 Q9P0S9 Y2H
Sakai Y , et al. 2011
TNIP2 TNFAIP3 interacting protein 2 79155 Q8NFZ5 Y2H
Sakai Y , et al. 2011
TOP3B topoisomerase (DNA) III beta 8940 O95985 HITS-CLIP
Xu D , et al. 2013
TRAF3 TNF receptor-associated factor 3 7187 Q13114 Y2H
Sakai Y , et al. 2011
TRIM27 tripartite motif-containing 27 5987 P14373 Y2H
Sakai Y , et al. 2011
TRIM9 tripartite motif containing 9 114088 Q9C026 Y2H
Sakai Y , et al. 2011
TRIP10 thyroid hormone receptor interactor 10 9322 Q15642 Y2H
Sakai Y , et al. 2011
TSG101 tumor susceptibility gene 101 7251 Q99816 Y2H
Sakai Y , et al. 2011
TUBA1C tubulin, alpha 1c 84790 Q9BQE3 Y2H
Sakai Y , et al. 2011
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) 7345 P09936 Y2H
Sakai Y , et al. 2011
VIM vimentin 7431 P08670 Y2H
Sakai Y , et al. 2011
VPS18 vacuolar protein sorting 18 homolog (S. cerevisiae) 57617 Q9P253 Y2H
Sakai Y , et al. 2011
WWP1 WW domain containing E3 ubiquitin protein ligase 1 11059 Q9H0M0 Y2H
Sakai Y , et al. 2011
ZCCHC2 zinc finger, CCHC domain containing 2 54877 Q9C0B9 Y2H
Sakai Y , et al. 2011
Cnksr2 connector enhancer of kinase suppressor of Ras 2 245684 Q80YA9 Protein microarray
Stiffler MA , et al. 2006
Dlgap3 discs, large (Drosophila) homolog-associated protein 3 242667 Q6PFD5 ITC; Co-crystal structure; IP/WB; Size-exclusion chromatography (SEC)
Zeng M , et al. 2016
FMR1 fragile X mental retardation 1 14265 P35922 HITS-CLIP
Darnell JC , et al. 2011
GRB2 growth factor receptor-bound protein 2 2885 P62993 IP/WB
Schuetz G , et al. 2004
MED23 Mediator of RNA polymerase II transcription subunit 23 70208 Q80YQ2 MS; IP/WB
Grabrucker S , et al. 2014
MET met proto-oncogene 17295 P16056 IP; LC-MS/MS; Proximity ligation assay
Xie Z , et al. 2016
PAX6 paired box gene 6 18508 P63015 Protein microarray
Stiffler MA , et al. 2006
RALY RNA-binding protein Raly 19383 Q64012 MS; IP/WB
Grabrucker S , et al. 2014
Rbfox1 RNA binding protein, fox-1 homolog (C. elegans) 1 268859 Q9JJ43 HITS-CLIP
Weyn-Vanhentenryck SM , et al. 2014
ROA0 Heterogeneous nuclear ribonucleoprotein A0 77134 Q9CX86 MS; IP/WB
Grabrucker S , et al. 2014
ROA2 Heterogeneous nuclear ribonucleoproteins A2/B1 102642938 O88569 MS; IP/WB
Grabrucker S , et al. 2014
ROA3 Heterogeneous nuclear ribonucleoprotein A3 229279 Q8BG05 MS; IP/WB
Grabrucker S , et al. 2014
TSC1 tuberous sclerosis 1 64930 Q9EP53 IP/WB
Sakai Y , et al. 2011
Abi1 abl-interactor 1 79249 Q9QZM5 Y2H; GST; IP/WB
Proepper C , et al. 2007
Arhgef7 Rho guanine nucleotide exchange factor (GEF7) 114559 O55043 Y2H; GST; IP/WB
Park E , et al. 2003
Baiap2 BAI1-associated protein 2 117542 Q6GMN2 Y2H; GST; IP/WB
Bockmann J , et al. 2002
Cttn cortactin 60465 Q66HL2 GST; IP/WB
Naisbitt S , et al. 1999
Dbnl drebrin-like 83527 Q9JHL4 GST; IP/WB
Qualmann B , et al. 2004
Dlgap1 discs, large (Drosophila) homolog-associated protein 1 65040 P97836 Y2H; GST; IP/WB
Naisbitt S , et al. 1999
Dlgap2 discs, large (Drosophila) homolog-associated protein 2 116681 P97837 Y2H
Boeckers TM , et al. 1999
Dlgap3 discs, large (Drosophila) homolog-associated protein 3 286923 P97838 Y2H
Boeckers TM , et al. 1999
Dlgap4 discs, large homolog-associated protein 4 (Drosophila) 286930 P97839 Y2H
Boeckers TM , et al. 1999
Grm1 glutamate receptor, metabotropic 1 24414 P23385 GST
Tu JC , et al. 1999
Grm5 glutamate receptor, metabotropic 5 24418 P31424 GST
Tu JC , et al. 1999
HOMER1 homer homolog 1 (Drosophila) 9456 Q86YM7 Y2H; GST; IP/WB
Tu JC , et al. 1999
Homer1 homer homolog 1 (Drosophila) 29456 Q9Z214 Y2H; GST; IP/WB
Tu JC , et al. 1999
Homer2 homer homolog 2 (Drosophila) 29547 O88801 GST
Tu JC , et al. 1999
Homer3 homer homolog 3 (Drosophila) 29548 Q9Z2X5 GST
Tu JC , et al. 1999
Lzts2 leucine zipper, putative tumor suppressor 2 365468 F1LQW9 IP/WB
Schmeisser MJ , et al. 2009
Prosapip1 ProSAPiP1 protein 280670 Q8K1Q4 Y2H; GST; IP/WB
Wendholt D , et al. 2006
Rps6ka3 ribosomal protein S6 kinase polypeptide 3 501560 D3Z8E0 Y2H; IP/WB; WB
Thomas GM , et al. 2005
Shank3 SH3 and multiple ankyrin repeat domains 3 59312 Q9JLU4 GST; IP/WB
Naisbitt S , et al. 1999
Sptan1 spectrin, alpha, non-erythrocytic 1 64159 P16086 Y2H; IP/WB
Bckers TM , et al. 2001
Tbkbp1 TBK1 binding protein 1 266764 Q6DG50 Y2H
Liebau S , et al. 2009
LZTS2 leucine zipper, putative tumor suppressor 2 495421 Q5U4W1 IP/WB
Gessert S , et al. 2011

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