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Relevance to Autism

Seven loss-of-function variants in the SETD5 gene, five of which were confirmed as de novo in origin, were identified in affected individuals following screening of 996 individuals with ID in Grozeva et al., 2014; two individuals with de novo LoF SETD5 variants were also identified as autistic in the supplementary material (PMID 24680889). A de novo LoF variant and a de novo likely damaging missense variant in the SETD5 gene were identified in two unrelated ASD probands from 2,270 trios screened by the Autism Sequencing Consortium in De Rubeis et al., 2014 (PMID 25363760); de novo missense variants in SETD5 had previously been observed in ASD probands from simplex families (Neale et al., 2012; Iossifov et al., 2012). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in this report identified SETD5 as a gene meeting high statistical significance with a 0.05 < FDR 0.1, meaning that this gene had a 90% chance of being a true autism gene (PMID 25363760). 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). De novo LoF or damaging missense variants in SETD5 have also been identified in multiple individuals with developmental delay, intellectual disability, and/or epilepsy in the absence of ASD (PMIDs 23020937, 25138099, 27334371, 28191889, 28549204).

Molecular Function

This gene is predicted to encode a methyltransferase and resides within the critical interval for the 3p25 microdeletion syndrome.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disa...
ID
OCD, ASD
Support
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
ID
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
DD
Support
A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report.
Autosomal dominant mental retardation-23 (MRD23)
DD, ID
Support
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Exome Pool-Seq in neurodevelopmental disorders.
ID
Hypotonia
Support
Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.
ID
Support
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnose...
Brain abnormalities
Support
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Congenital heart disease (CHD)
Neurodevelopmental disorders (NDD)
Support
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
ID
Support
SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
ID
Support
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
DD
Dysmorphic features, MCA
Support
De novo gene disruptions in children on the autistic spectrum.
ASD
Support
Mutations in HECW2 are associated with intellectual disability and epilepsy.
ID, epilepsy/seizures
Support
Expanding the genetic heterogeneity of intellectual disability.
ID
ADHD
Support
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
SETD5 gene variant associated with mild intellectual disability - a case report.
ID
Recent Recommendation
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.
Recent Recommendation
Genetic variations on SETD5 underlying autistic conditions.
ID
Autistic features
Recent Recommendation
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
DD
ADHD, ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN607R001 
 stop_gained 
 c.1195A>T 
 p.Lys399Ter 
 De novo 
 NA 
 Simplex 
 GEN607R002 
 stop_gained 
 c.1333C>T 
 p.Arg445Ter 
 Unknown 
 Not maternal 
 Multiplex 
 GEN607R003 
 stop_gained 
 c.1866C>G 
 p.Tyr622Ter 
 Unknown 
 Not maternal 
 Simplex 
 GEN607R004 
 frameshift_variant 
 c.2177_2178del 
 p.Thr726AsnfsTer39 
 De novo 
 NA 
 Simplex 
 GEN607R005 
 stop_gained 
 c.3001C>T 
 p.Arg1001Ter 
 De novo 
 NA 
 Simplex 
 GEN607R006 
 frameshift_variant 
 c.3771dup 
 p.Ser1258GlufsTer65 
 De novo 
 NA 
 Simplex 
 GEN607R007 
 frameshift_variant 
 c.3856del 
 p.Ser1286LeufsTer84 
 De novo 
 NA 
 Simplex 
 GEN607R008 
 missense_variant 
 c.1405G>A 
 p.Val469Ile 
 De novo 
 NA 
 Simplex 
 GEN607R009 
 missense_variant 
 c.2005G>A 
 p.Gly669Arg 
 De novo 
 NA 
 Simplex 
 GEN607R010 
 stop_gained 
 c.2302C>T 
 p.Arg768Ter 
 De novo 
 NA 
 Simplex 
 GEN607R011 
 copy_number_loss 
  
  
 De novo 
 NA 
 Unknown 
 GEN607R012 
 splice_site_variant 
 c.547_567+60del 
  
 De novo 
 NA 
 Simplex 
 GEN607R013 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN607R014 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN607R015 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN607R016 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN607R017 
 stop_gained 
 c.922C>T 
 p.Arg308Ter 
 De novo 
 NA 
 Simplex 
 GEN607R018 
 missense_variant 
 c.1405G>A 
 p.Val469Ile 
 De novo 
 NA 
 Simplex 
 GEN607R019 
 missense_variant 
 c.3773G>C 
 p.Ser1258Thr 
 De novo 
 NA 
 Simplex 
 GEN607R020 
 missense_variant 
 c.2054G>A 
 p.Arg685His 
 Familial 
 Paternal 
 Simplex 
 GEN607R021 
 missense_variant 
 c.2054G>A 
 p.Arg685His 
 Familial 
 Maternal 
 Simplex 
 GEN607R022 
 missense_variant 
 c.1712G>C 
 p.Gly571Ala 
 Familial 
 Paternal 
 Simplex 
 GEN607R023 
 missense_variant 
 c.1712G>C 
 p.Gly571Ala 
 Familial 
 Paternal 
 Simplex 
 GEN607R024 
 missense_variant 
 c.1712G>C 
 p.Gly571Ala 
 Familial 
 Maternal 
 Simplex 
 GEN607R025 
 missense_variant 
 c.2006G>C 
 p.Gly669Ala 
 Familial 
 Maternal 
 Multiplex 
 GEN607R026 
 missense_variant 
 c.2653T>C 
 p.Tyr885His 
 Familial 
 Maternal 
 Simplex 
 GEN607R027 
 missense_variant 
 c.3174G>C 
 p.Gln1058His 
 Familial 
 Maternal 
 Simplex 
 GEN607R028 
 missense_variant 
 c.3817A>C 
 p.Ser1273Arg 
 Familial 
 Maternal 
 Simplex 
 GEN607R029 
 missense_variant 
 c.31A>G 
 p.Thr11Ala 
 Familial 
 Paternal 
 Simplex 
 GEN607R030 
 missense_variant 
 c.2468A>G 
 p.Asp823Gly 
 Familial 
 Maternal 
 Simplex 
 GEN607R031 
 missense_variant 
 c.1374A>T 
 p.Ser458%3D 
 Familial 
 Paternal 
 Simplex 
 GEN607R032 
 missense_variant 
 c.1550C>T 
 p.Ala517Val 
 Familial 
 Maternal 
 Simplex 
 GEN607R033 
 missense_variant 
 c.4081G>T 
 p.Val1361Phe 
 Familial 
 Paternal 
 Simplex 
 GEN607R034 
 missense_variant 
 c.4115C>T 
 p.Thr1372Ile 
 Familial 
 Paternal 
 Multiplex 
 GEN607R035 
 stop_gained 
 c.598G>T 
 p.Glu200Ter 
 Unknown 
  
 Unknown 
 GEN607R036 
 missense_variant 
 c.1022G>A 
 p.Arg341His 
 Unknown 
  
 Unknown 
 GEN607R037 
 missense_variant 
 c.2348G>A 
 p.Arg783His 
 Unknown 
  
 Unknown 
 GEN607R038 
 missense_variant 
 c.3305G>A 
 p.Gly1102Asp 
 Unknown 
  
 Unknown 
 GEN607R039 
 missense_variant 
 c.3527G>A 
 p.Arg1176Gln 
 Unknown 
  
 Unknown 
 GEN607R040 
 missense_variant 
 c.3635C>T 
 p.Pro1212Leu 
 Unknown 
  
 Unknown 
 GEN607R041 
 missense_variant 
 c.952T>C 
 p.Phe318Leu 
 Unknown 
  
 Unknown 
 GEN607R042 
 missense_variant 
 c.2164C>G 
 p.Pro722Ala 
 Unknown 
  
 Unknown 
 GEN607R043 
 missense_variant 
 c.2351G>A 
 p.Trp784Ter 
 Unknown 
  
 Unknown 
 GEN607R044 
 missense_variant 
 c.2942T>G 
 p.Phe981Cys 
 Unknown 
  
 Unknown 
 GEN607R045 
 missense_variant 
 c.3907G>A 
 p.Ala1303Thr 
 Unknown 
  
 Unknown 
 GEN607R046 
 missense_variant 
 c.367C>T 
 p.Arg123Trp 
 Unknown 
  
 Unknown 
 GEN607R047 
 missense_variant 
 c.2307G>T 
 p.Arg769Ser 
 Unknown 
  
 Unknown 
 GEN607R048 
 missense_variant 
 c.2920G>C 
 p.Asp974His 
 Unknown 
  
 Unknown 
 GEN607R049 
 stop_gained 
 c.3154G>T 
 p.Gly1052Ter 
 De novo 
 NA 
 Unknown 
 GEN607R050 
 stop_gained 
 c.2158G>T 
 p.Glu720Ter 
 De novo 
 NA 
 Simplex 
 GEN607R051 
 frameshift_variant 
  
 p.Thr552AsnfsTer5 
 De novo 
 NA 
  
 GEN607R052 
 stop_gained 
 c.2918C>G 
 p.Ser973Ter 
 Familial 
 Paternal 
 Multi-generational 
 GEN607R053 
 splice_site_variant 
 c.1524+1G>A 
  
 Familial 
 Paternal 
  
 GEN607R054 
 missense_variant 
 c.1043G>A 
 p.Arg348Gln 
 De novo 
 NA 
  
 GEN607R055 
 frameshift_variant 
 c.3855dup 
 p.Ser1286LeufsTer37 
 De novo 
 NA 
 Simplex 
 GEN607R056 
 frameshift_variant 
 c.1655_1656insA 
 p.Pro553SerfsTer4 
 De novo 
 NA 
  
 GEN607R057 
 splice_site_variant 
 c.1783-2A>T 
  
 De novo 
 NA 
  
 GEN607R058 
 stop_gained 
 c.3001C>T 
 p.Arg1001Ter 
 De novo 
 NA 
  
 GEN607R059 
 frameshift_variant 
 c.71+876dup 
  
 De novo 
 NA 
  
 GEN607R060 
 splice_site_variant 
 c.2347-7A>G 
 p.? 
 De novo 
 NA 
  
 GEN607R061 
 splice_site_variant 
 c.2347-7A>G 
  
 De novo 
 NA 
  
 GEN607R062 
 frameshift_variant 
 c.71+2260del 
  
 De novo 
 NA 
  
 GEN607R063 
 frameshift_variant 
 c.3246del 
 p.Ala1083LeufsTer61 
 De novo 
 NA 
  
 GEN607R064 
 frameshift_variant 
 c.71+1947_71+1948insA 
  
 Familial 
 Maternal 
 Multi-generational 
 GEN607R065 
 splice_site_variant 
 c.2347-7A>G 
  
 De novo 
 NA 
  
 GEN607R066 
 stop_gained 
 c.2955T>A 
 p.Tyr985Ter 
 Familial 
 Maternal 
 Multi-generational 
 GEN607R067 
 frameshift_variant 
 c.71+1186_71+1201del 
  
 Unknown 
  
 Familial 
 GEN607R068 
 splice_site_variant 
 c.2476+1G>A 
  
  
  
 Simplex 
 GEN607R069 
 stop_gained 
 c.2302C>T 
 p.Arg768Ter 
 De novo 
 NA 
 Simplex 
 GEN607R070 
 stop_gained 
 c.1333C>T 
 p.Arg445Ter 
 De novo 
 NA 
  
 GEN607R071 
 frameshift_variant 
 c.1125dup 
 p.Val376CysfsTer9 
 De novo 
 NA 
  
 GEN607R072 
 frameshift_variant 
 c.2025_2026del 
 p.Gly676ValfsTer2 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 19
 
3
Deletion
 1
 
3
Duplication
 3
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Deletion
 2
 
3
Duplication
 1
 

Model Summary

Setd5 happlodeficient mice show abnormal brain to body weight ratios, neural crest abnormalities, increased LTP, delayed USV, reduced cognitive flexibility, deficits in nest building behavior, and abnormalities in the regulation of gene transcription.

References

Type
Title
Author, Year
Primary
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.
Additional
Setd5 haploinsufficiency alters neuronal network connectivity and leads to autistic-like behaviors in mice.

M_SETD5_1_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Setd5 heterozygous mice lacking exons 3 to 6 were generated by mating Setd5^tm1a(EUCOMM)Wtsi mice with Flip mice followed by CMV-Cre mice (CMVCre (B6.C-Tg(CMV-cre)1Cgn/J)
Allele Type: Knockout
Strain of Origin: C57BL/6N
Genetic Background: C57BL/6J
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: International Mouse Phenotyping Consortium, Jackson Laboratories

M_SETD5_2_KI_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Mice with GFP coding sequences inserted in the first exon of Setd5, upstream of the translation initiation sequence, using an RMCE-based strategy resulting in disruption of full-length SetD5 mRNA and protein expression and an effective SetD5^GFP null allele. This is a loss of function knockin.
Allele Type: LOF Knockin
Strain of Origin: C57/Bl6
Genetic Background: C57/Bl6
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: PMID 27864380

M_SETD5_1_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neuronal differentiation and specification in the brain1
Abnormal
Description: Mutants favor the expression of neuronal lineage genes at the expense of others compared with controls.
 Rna sequencing
 E9.5
Synaptic plasticity: hippocampal ltp1
Increased
Description: Mutants show increase in early and late field potential recordings compared with controls, indicating abnormal synaptic plasticity.
Exp Paradigm: LTP of the synaptic transmission at CA3CA1 synapses in hippocampal slices was assayed.
 Field potential recordings
 Adult
Repetitive nose pokes1
Increased
Description: Mutants performed more nose pokes per corner visit even when not seeking water and showed no licks, compared with controls. Mutants performed fewer visits to doors with nose pokes but without licks indicating a predisposition for repetitive behavior.
 Operant conditioning paradigm
 Adult
Nest building behavior1
Decreased
Description: Female mutants show decrease in nest scores compared with controls.
 Nest building assay
 Adult
Ultrasonic vocalization: isolation induced1
Increased
Description: Mutants show increased in isolation induced ultrasonic vocalizations compared with controls.
 Monitoring ultrasonic vocalizations
 P10, P12
Ultrasonic vocalization: isolation induced1
Decreased
Description: Female mutants show delayed peaking of isolation induced usv response compared with controls.
 Monitoring ultrasonic vocalizations
 P2-12
Coat color1
Abnormal
Description: Mutants show white spotting on the belly fur compared with controls.
 General observations
 Adult
Mortality/lethality1
Increased
Description: Mutants are viable but are born at a non-Mendelian ratio compared with controls. Reduced survival is more pronounced in female mutants.
 Kaplan-meier survival curve
 0-10 weeks
Skeletal development: craniofacial1
Abnormal
Description: Mutants show maxillary and premaxillary abnormalities and teeth abnormalities compared with controls.
 Skeletal x-rays
 Adult
Eye development: eye size1
Decreased
Description: Mutants show decrease in eye size, micropthalmia, compared with controls.
 General observations
 Adult
Skeletal development1
Abnormal
Description: Mutants show fusion of vertebrae compared with controls.
 Skeletal x-rays
 Adult
Eye development1
Abnormal
Description: Mutants show displacement in the position of the pupil, corectopia, and dilation of the pupil, mydriasis, compared with controls.
 General observations
 Adult
Size/growth1
Decreased
Description: Female mutants are smaller compared with controls.
 General observations
 P1, 1 month
Anxiety1
Decreased
Description: Female mutants show increase in time spent in the open arms but no change in time spent in the closed arms or in number of entries into the open or closed arms compared with controls.
 Elevated plus maze test
 Adult
Spatial working memory1
Increased
Description: Mutants show increased capacity to distinguish between old and new location of an object compared with controls that showed no memory trace, 24 hours after a sub-threshold training.
 Object-place recognition test
 Adult
Cued or contextual fear conditioning: memory of context1
Increased
Description: Mutants show no change in the acquisition of contextual fear memory compared with controls indicating no change in sensory acuity. Female mutants show increased retention of contextual fear memory assessed by increase in freezing response compared with controls, 24 hours after acquisition. Males show no increase in freezing response 24 hours after acquisition compared with controls. Males do show increase in freezing response 24 hours after acquisition compared to control with weaker training.
 Fear conditioning test
 Adult
Cued or contextual fear conditioning: extinction1
Decreased
Description: Mutants show decrease in the capacity to extinguish memory of contextual fear as measured by freezing response 24 hours after acquisition of memory, compared with controls.
 Fear conditioning test
 Adult
Cognitive flexibility1
Decreased
Description: Mutants show no change in the decrease in the number of visits to the incorrect corner compared with controls, in the beginning of the test. After 24 hours mutants show continued nose pokes at the incorrect and correct corners with comparable frequency whereas controls reduced the number of nose pokes in the incorrect corners, indicating deficiency in adaptive behavior.
Exp Paradigm: Animals get access to water at the four corners of the cage by nose poking on doors. Nose poking at other doors yields an aversive air puff.
 Operant conditioning paradigm
 Adult
Gene expression1
Abnormal
Description: Mutants show increased expression of activity dependent immediate-early genes Fos and Egr2 and CREB dependent genes 1 hour after conditioning whereas controls show increase of activity dependent immediate-early genes Fos and Egr2 and CREB dependent genes that lasts for 3 hours after conditioning, indicating a difference in transcriptional response to training. Genes upregulated in mutants are PSD (post synaptic density) genes Shank1, CamKIIN1, CPEB1, FXR2P, and synaptopodin, genes encoding proteins regulating synapse structure and activity, SynGAP1, LRRC4, and p140Cap and genes involved in methylation and acetylation.
 Rna sequencing
 Adult
Gene expression1
Abnormal
Description: Mutants show abnormal expression of genes involved in cells cycle regulation, neurogenesis, eye development, response to BMP and other processes compared with controls. Upregulated genes were involved in head and brain development while down-regulated genes were involved in the development of neural crest, heart, limbs and skeleton. Aberrant genes also included those involved in eye development such as Otx2, Aldh1a3, Stra6, and Sox2.
 Rna sequencing
 E9.5
Targeted expression1
Decreased
Description: Mutants show decreased expression of Setd5 in the brain compared with controls.
 Semi-quantitative pcr (qrt-pcr)
 E16.5, P1, 3 weeks, adult
Chromatin modification: histone acetylation1
Increased
Description: Mutants show increased acetylation of the lysine 8 of histone 4 in the hippocampus compared with controls. Mutants also show increased H4K8 acetylation 3 hours after contextual fear conditioning compared with controls.
 Western blot
 Adult
Signaling: wnt pathway1
Abnormal
Description: Mutants show abnormal expression of Wnt signaling pathway components compared with controls, including down regulation of beta catenin and TCF3 target genes.
 Rna sequencing
 E9.5
Ultrasonic vocalization: isolation induced1
 No change
 Monitoring ultrasonic vocalizations
 P2, P4, P6, P8
Renal morphology1
 No change
 Measurement of tissue weight
 Adult
Anxiety1
 No change
 Elevated plus maze test
 Adult
Anxiety1
 No change
 Open field test
 Adult
Chromatin modification1
 No change
 Western blot
 Adult
Enzyme activity1
 No change
 Enzyme assay
 Adult
General locomotor activity1
 No change
 Open field test
 Adult
General locomotor activity: ambulatory activity1
 No change
 Open field test
 Adult
Brain morphology1
 No change
 Histology
 Adult
Brain size1
 No change
 Measurement of tissue weight
 P1, 1 month
Cell proliferation: neural precursors1
 No change
 Immunohistochemistry
 E12.5
Cortical lamination1
 No change
 Immunohistochemistry
 Adult
Cortical thickness1
 No change
 Immunohistochemistry
 Adult
Glial morphology1
 No change
 Immunohistochemistry
 E12.5
Neuronal number in the brain1
 No change
 Immunohistochemistry
 E12.5
Apoptosis: brain cells1
 No change
 Immunohistochemistry
 E12.5
Circling1
 No change
 Open field test
 Adult
Repetitive digging1
 No change
 Marble-burying test
 Adult
Nest building behavior1
 No change
 Nest building assay
 Adult
Social approach1
 No change
 Three-chamber social approach test
 Adult
Social memory1
 No change
 Three-chamber social approach test
 Adult
 Not Reported: Circadian sleep/wake cycle, Immune response, Maternal behavior, Physiological parameters, Seizure, Sensory

M_SETD5_2_KI_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: ambulatory activity1
Increased
Description: Mutants show increaase in distance travelled over an hour on the open field compared with controls.
 Open field test
 Adult
Cortical lamination1
Decreased
Description: Mutants show decrease in thickness of the Ctip2 postive deep cortical layer at P1 and P10 compared with controls.
 Fluorescence microscopy
 P1, P10
Brain morphology1
Abnormal
Description: Mutants show differences in volumes of multiple brain regions including secondary auditory cortex, dorsolateral orbital cortex and frontal association cortex, when normalized to total brain volume compared with controls.
 Magnetic resonance imaging (mri)
 Adult
Social memory1
Decreased
Description: Mutants show decrease in the ratio of time spent with an ufamiliar over a familiar mouse compared with controls.
 Three-chamber social approach test
 Adult
Nest building behavior1
Decreased
Description: Mutants build simpler nests compared with controls.
 Nest building assay
 Adult
Anxiety1
Increased
Description: Mutants spent less time in the open arms of the open maze compared with controls.
 Elevated plus maze test
 Adult
Anxiety1
Increased
Description: Mutants spent less time in the center of fhe open field compared with controls.
 Open field test
 Adult
Spatial reference memory1
Decreased
Description: Mutants showed reduced spatial recall compared with controls.
 Barnes maze test
 Adult
Gene expression1
Increased
Description: Mutants show upregulation of Ccnd2, Abracl, Nr2f1, and Cdca7 genes in the cortex compared with controls.
 Rna sequencing
 E18.5
Gene expression1
Decreased
Description: Mutants show downregulation of Zic1, Zic4, Fgf15, Malat1, Cadm1, Pnoc, Kitl, Efna5 and Nnat genes in the cortex compared with controls.
 Rna sequencing
 E18.5
Size/growth1
 No change
 Body weight measurement
 10 weeks
Clasping reflex1
 No change
 General observations
 10 weeks
Gait1
 No change
 Gait
 10 weeks
Grip strength1
 No change
 Grip strength test
 10 weeks
Hunched posture1
 No change
 General observations
 10 weeks
Motor coordination and balance1
 No change
 Ledge test
 10 weeks
Motor coordination and balance1
 No change
 Accelerating rotarod test
 10 weeks
Brain size1
 No change
 Magnetic resonance imaging (mri)
 Adult
Cortical lamination1
 No change
 Fluorescence microscopy
 P1, P10
Cortical thickness1
 No change
 Magnetic resonance imaging (mri)
 Adult
Hippocampal morphology1
 No change
 Magnetic resonance imaging (mri)
 Adult
Morphology of the amygdala1
 No change
 Magnetic resonance imaging (mri)
 Adult
Neuronal number in the brain1
 No change
 Fluorescence microscopy
 P1, P10
Seizure threshold1
 No change
 Electroencephalogram (eeg)
 Adult
Seizures1
 No change
 Observation of chemically induced seizures
 Adult
Social approach1
 No change
 Three-chamber social approach test
 Adult
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Neurophysiology, Physiological parameters, Repetitive behavior, Sensory


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CCDC85B coiled-coil domain containing 85B 11007 Q15834 Y2H
Rual JF , et al. 2005
CEP70 centrosomal protein 70kDa 80321 Q8NHQ1 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
DPPA2 Developmental pluripotency-associated protein 2 151871 Q7Z7J5 Y2H
Rual JF , et al. 2005
KRT40 keratin 40, type I 125115 Q6A162 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
LDOC1 Protein LDOC1 23641 O95751 Y2H
Venkatesan K , et al. 2008
miR126-5p microRNA 126 406913 N/A in situ hybridization; in silico target prediction; qRT-PCR
Poissonnier L , et al. 2014
miR1265p microRNA 126 406913 N/A Luciferase reporter assay; IP/WB; qRT-PCR
Poissonnier L , et al. 2014
MTUS2 microtubule associated tumor suppressor candidate 2 23281 J3KQA9 Y2H; bimolecular fluorescence complementation assay
Rolland T , et al. 2014
NAGK N-acetylglucosamine kinase 55577 Q9UJ70 IP; LC-MS/MS
Huttlin EL , et al. 2015
PRMT2 protein arginine methyltransferase 2 3275 P55345 IP; LC-MS/MS
Huttlin EL , et al. 2015
PRR20E Proline-rich protein 20E 122183 P86478 IP; LC-MS/MS
Huttlin EL , et al. 2015
SKAP1 Src kinase-associated phosphoprotein 1 8631 Q86WV1-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
TOP3B topoisomerase (DNA) III beta 8940 O95985 MS; HITS-CLIP
Xu D , et al. 2013
TRAF2 TNF receptor-associated factor 2 7186 Q12933 Y2H
Rual JF , et al. 2005
ARX aristaless related homeobox 11878 O35085 ChIP
Quill ML , et al. 2011
FMR1 fragile X mental retardation 1 14265 P35922 HITS-CLIP
Darnell JC , et al. 2011

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