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Relevance to Autism

Recurrent mutations in the ADNP gene have been identified in multiple individuals with ASD as described below. Two de novo frameshift variants in ADNP were identified in unrelated simplex ASD cases in two reports by O'Roak and colleagues in 2012 (PMIDs 22495309 and 23160955). An additional seven de novo LoF variants were identified in patients with ASD in Helsmoortel et al., 2014, giving a current total of nine de novo LoF variants in ADNP gene in ASD cases; the probability of detecting eight or more de novo truncating events in ADNP was given as P=2.65 x 10-18 in this report (PMID 24531329). Furthermore, the frequency of shared clinical characteristics in ASD cases with LoF variants in ADNP (intellectual disability, facial dysmorphisms) led Helsmoortel and colleagues to conclude that ADNP mutations resulted in an autism syndrome. 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 De Rubeis et al., 2014 identified ADNP as a gene meeting high statistical significance with a FDR 0.01, meaning that this gene had a 99% 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). A two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases from the SPARK cohort, in Zhou et al., 2022 identified ADNP as a gene reaching exome-wide significance (P < 2.5E-06).

Molecular Function

Potential transcription factor that may mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation. In brain, expression is stronger in the cerebellum and cortex regions.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD
DD, ID
Support
Identification of a molecular network regulated by multiple ASD high risk genes
ASD
Support
Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
ASD
Support
Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder.
ASD
DD/ID
Support
DD, ID
Autistic features
Support
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
ID
Support
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
DD, ID
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD, DD
Support
Developmental Phenotype of the Rare Case of DJ Caused by a Unique ADNP Gene De Novo Mutation.
ASD, ID, Helsmoortel-van der Aa syndrome
ADHD, behavioral problems
Support
Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein
Helsmoortel-Van der Aa syndrome
DD, ADHD
Support
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
DD, ID, epilepsy/seizures
Stereotypic behavior, aggressive behavior
Support
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
DD, ID
Support
ADNP Controls Gene Expression Through Local Chromatin Architecture by Association With BRG1 and CHD4
Support
The genetic landscape of autism spectrum disorder in the Middle Eastern population
ASD
Support
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
ASD
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
Helsmoortel-van der Aa syndrome, DD
Support
Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies
Helsmoortel-van der Aa syndrome
Support
Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report
Helsmoortel-Van der Aa syndrome, ASD, ADHD, DD, ID
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Macrocephaly, white matter abnormalities
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
ASD
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ID
Support
Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders
ASD
ADHD, DD, ID
Support
Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related neurodevelopmental syndrome
Helsmoortel-Van der Aa syndrome
ASD
Support
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population
DD
ASD
Support
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
Support
The autism spectrum phenotype in ADNP syndrome.
ID
ASD
Support
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
ASD
Support
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype
Helsmoortel-van der Aa syndrome
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Helsmoortel-Van der Aa syndrome
Support
Helsmoortel-van der Aa syndrome
Support
The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings
Helsmoortel-Van der Aa syndrome
ASD, DD, ID
Support
A convergent mechanism of high risk factors ADNP and POGZ in neurodevelopmental disorders
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome
Helsmoortel-van der Aa syndrome, ASD, DD, ID
Support
The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey-ADNP Mutation.
ASD, ID
Support
A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.
Helsmoortel-Van der Aa syndrome
ID, autistic features
Support
Helsmoortel-Van der Aa syndrome, DD, ID
Autistic features, stereotypy
Support
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
ID
Epilepsy/seizures
Support
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing
ASD, DD, ID
Support
Genome-wide characteristics of de novo mutations in autism
ASD
Support
Cellular and animal models of skin alterations in the autism-related ADNP syndrome
Helsmoortel-Van der Aa syndrome
ASD, ID
Support
Helsmoortel-van der Aa syndrome, DD
Support
Novel features of Helsmoortel-Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing
Helsmoortel-Van der Aa syndrome
DD
Support
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy
Epilepsy/seizures
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Clinical impact and in vitro characterization of ADNP variants in pediatric patients
Helsmoortel-van der Aa syndrome
ASD, DD, ID
Support
Large-scale discovery of novel genetic causes of developmental disorders.
ASD, DD, ID
Support
Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome.
Helsmoortel-Van der Aa syndrome
DD, ID
Support
ASD, ID
Support
Whole genome sequencing of 45 Japanese patients with intellectual disability
ASD, DD, ID
Support
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case
Helsmoortel-van der Aa syndrome, ASD, DD, epilepsy
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Support
ASD
ID
Support
SH3- and actin-binding domains connect ADNP and SHANK3
ASD
Support
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.
DD
Support
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
ASD
Support
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series
Helsmoortel-van der Aa syndrome, ASD, DD
Stereotypy
Support
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
ASD
Support
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.
Helsmoortel-Van der Aa syndrome
Autistic behavior
Support
Distinct Impairments Characterizing Different ADNP Mutants Reveal Aberrant Cytoplasmic-Nuclear Crosstalk
Helsmoortel-van der Aa syndrome
Alzheimer's disease
Support
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings
ASD
Support
Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions
ASD, ID
Oppositional features
Support
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
Helsmoortel-Van der Aa syndrome
ASD, DD, ID
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
DD, ID
ASD
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ID
Epilepsy/seizures
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
ASD, epilepsy/seizures
Support
Clinical Utility of Proband Only Clinical Exome Sequencing in Neurodevelopmental Disorders
ASD, ADHD
Support
Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing
Helsmoortel-Van der Aa syndrome
ASD, DD, ID
Support
Mutation in the ADNP gene associated with Noonan syndrome features
Helsmoortel-Van der Aa syndrome
ASD, DD, ID
Support
Integrating de novo and inherited variants in 42
ASD
ADHD, SCZ, epilepsy/seizures
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer's pathologies.
Recent Recommendation
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Craniosynostosis
ASD
Recent Recommendation
The NAP motif of activity-dependent neuroprotective protein (ADNP) regulates dendritic spines through microtubule end binding proteins.
Recent Recommendation
Arachnoid cysts
ASD, DD, epilepsy/seizures
Recent Recommendation
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
ASD
ID
Recent Recommendation
Discovery of autism/intellectual disability somatic mutations in Alzheimer's brains: mutated ADNP cytoskeletal impairments and repair as a case study.
AD
Recent Recommendation
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Autosomal dominant mental retardation-28 (MRD28)
ASD, DD, ID, epilepsy
Recent Recommendation
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Helsmoortel-Van der Aa syndrome
ASD or autistic features
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN471R001 
 frameshift_variant 
 c.1222_1223del 
 p.Lys408ValfsTer31 
 De novo 
  
 Simplex 
 GEN471R002 
 frameshift_variant 
 c.2156_2157insT 
 p.Glu720ArgfsTer15 
 De novo 
  
 Simplex 
 GEN471R003 
 frameshift_variant 
 c.3280_3281insCC 
 p.Gly1094AlafsTer5 
 Familial 
 Maternal 
 Simplex 
 GEN471R004 
 frameshift_variant 
 c.2496_2499del 
 p.Asn832LysfsTer81 
 De novo 
  
  
 GEN471R005 
 stop_gained 
 c.1211C>A 
 p.Ser404Ter 
 De novo 
  
  
 GEN471R006 
 frameshift_variant 
 c.2153_2165del 
 p.Thr718ArgfsTer6 
 De novo 
  
  
 GEN471R007 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R008 
 frameshift_variant 
 c.2496_2499del 
 p.Asn832LysfsTer81 
 De novo 
  
  
 GEN471R009 
 frameshift_variant 
 c.2808del 
 p.Tyr936Ter 
 De novo 
  
  
 GEN471R010 
 frameshift_variant 
 c.2491_2494del 
 p.Leu831IlefsTer82 
 De novo 
  
  
 GEN471R011 
 stop_gained 
 c.1930C>T 
 p.Arg644Ter 
 Unknown 
  
  
 GEN471R012 
 stop_gained 
 c.118C>T 
 p.Gln40Ter 
 De novo 
  
 Simplex 
 GEN471R013 
 frameshift_variant 
 c.642_649del 
 p.Asn214LysfsTer4 
 De novo 
  
 Simplex 
 GEN471R014 
 frameshift_variant 
 c.2866_2869del 
 p.Glu956LeufsTer35 
 De novo 
  
 Simplex 
 GEN471R015 
 frameshift_variant 
 c.2318_2319del 
 p.Lys773IlefsTer14 
 Unknown 
  
 Unknown 
 GEN471R016 
 missense_variant 
 c.1668G>C 
 p.Gln556His 
 Unknown 
  
 Unknown 
 GEN471R017 
 missense_variant 
 c.1553G>A 
 p.Arg518His 
 Unknown 
  
 Unknown 
 GEN471R018 
 missense_variant 
 c.2881G>T 
 p.Asp961Tyr 
 Unknown 
  
 Unknown 
 GEN471R019 
 frameshift_variant 
 c.2497_2500del 
 p.Lys833SerfsTer80 
 De novo 
  
 Simplex 
 GEN471R020 
 frameshift_variant 
 c.1222_1223del 
 p.Lys408ValfsTer31 
 De novo 
  
 Simplex 
 GEN471R021 
 frameshift_variant 
 c.2156dup 
 p.Tyr719Ter 
 De novo 
  
 Simplex 
 GEN471R022 
 frameshift_variant 
 c.2496_2499del 
 p.Asn832LysfsTer81 
 De novo 
  
 Simplex 
 GEN471R023 
 frameshift_variant 
 c.1046_1047del 
 p.Leu349ArgfsTer49 
 De novo 
  
 Simplex 
 GEN471R024 
 missense_variant 
 c.3281G>T 
 p.Gly1094Val 
 Unknown 
  
 Unknown 
 GEN471R025 
 missense_variant 
 c.1327A>G 
 p.Thr443Ala 
 Unknown 
  
  
 GEN471R026 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 De novo 
  
 Simplex 
 GEN471R027 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 De novo 
  
  
 GEN471R028 
 frameshift_variant 
 c.1035_1038del 
 p.Ser346Ter 
 De novo 
  
 Simplex 
 GEN471R029 
 stop_gained 
 c.632T>A 
 p.Leu211Ter 
 De novo 
  
  
 GEN471R030 
 frameshift_variant 
 c.3047dup 
 p.Ala1017GlyfsTer6 
 Familial 
 Maternal 
  
 GEN471R031 
 missense_variant 
 c.2288C>T 
 p.Ser763Phe 
 Familial 
 Maternal 
  
 GEN471R032 
 frameshift_variant 
 c.2157del 
 p.Tyr719Ter 
 De novo 
  
 Simplex 
 GEN471R033 
 stop_gained 
 c.3170T>A 
 p.Leu1057Ter 
 De novo 
  
 Simplex 
 GEN471R034 
 frameshift_variant 
 c.3066_3069del 
 p.Asp1022GlufsTer4 
 De novo 
  
  
 GEN471R035 
 frameshift_variant 
 c.2491_2494del 
 p.Leu831IlefsTer82 
 De novo 
  
  
 GEN471R036 
 stop_gained 
 c.2213C>G 
 p.Ser738Ter 
 De novo 
  
  
 GEN471R037 
 stop_gained 
 c.673C>T 
 p.Arg225Ter 
 De novo 
  
  
 GEN471R038 
 frameshift_variant 
 c.1035_1038del 
 p.Ser346Ter 
 De novo 
  
  
 GEN471R039 
 stop_gained 
 c.3170T>A 
 p.Leu1057Ter 
 De novo 
  
 Simplex 
 GEN471R040 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R041 
 stop_gained 
 c.517C>T 
 p.Arg173Ter 
 De novo 
  
  
 GEN471R042 
 frameshift_variant 
 c.2156dup 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R043 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 De novo 
  
  
 GEN471R044 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 De novo 
  
 Simplex 
 GEN471R045 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 De novo 
  
 Simplex 
 GEN471R046 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R047 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN471R048 
 frameshift_variant 
 c.339del 
 p.Phe114SerfsTer47 
 Unknown 
  
  
 GEN471R049 
 frameshift_variant 
 c.1046_1047del 
 p.Leu349ArgfsTer49 
 De novo 
  
  
 GEN471R050 
 frameshift_variant 
 c.2287del 
 p.Ser763ProfsTer9 
 Unknown 
  
  
 GEN471R051 
 frameshift_variant 
 c.287del 
 p.Val96AlafsTer65 
 Unknown 
  
  
 GEN471R052 
 stop_gained 
 c.1102C>T 
 p.Gln368Ter 
 Unknown 
  
  
 GEN471R053 
 frameshift_variant 
 c.819del 
 p.Lys274AsnfsTer31 
 De novo 
  
  
 GEN471R054 
 frameshift_variant 
 c.2496_2499del 
 p.Asn832LysfsTer81 
 De novo 
  
  
 GEN471R055 
 stop_gained 
 c.2157C>A 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R056 
 frameshift_variant 
 c.190dup 
 p.Thr64AsnfsTer35 
 De novo 
  
  
 GEN471R057 
 frameshift_variant 
 c.2250_2274del 
 p.Val751MetfsTer13 
 De novo 
  
  
 GEN471R058 
 frameshift_variant 
 c.1026dup 
 p.Val343CysfsTer56 
 De novo 
  
 Simplex 
 GEN471R059 
 frameshift_variant 
 c.2250_2274del 
 p.Val751MetfsTer13 
 De novo 
  
 Multiplex 
 GEN471R060 
 initiator_codon_variant 
 c.2T>C 
 p.Met1? 
 De novo 
  
 Simplex 
 GEN471R061 
 frameshift_variant 
 c.2155del 
 p.Tyr719ThrfsTer9 
 Unknown 
 Not maternal 
 Simplex 
 GEN471R062 
 copy_number_loss 
  
  
 Unknown 
 Not maternal 
 Simplex 
 GEN471R063 
 frameshift_variant 
 c.2798_2799del 
 p.Gly933ValfsTer10 
 Unknown 
  
 Multiplex 
 GEN471R064 
 frameshift_variant 
 c.537dup 
 p.Val180SerfsTer2 
 De novo 
  
 Simplex 
 GEN471R065 
 frameshift_variant 
 c.10C>G 
 p.Leu4Val 
 Unknown 
  
 Unknown 
 GEN471R066 
 frameshift_variant 
 c.2499del 
 p.Val834SerfsTer80 
 De novo 
  
 Simplex 
 GEN471R067 
 stop_gained 
 c.517C>T 
 p.Arg173Ter 
 De novo 
  
 Simplex 
 GEN471R068 
 frameshift_variant 
 c.2251_2275del 
 p.Val751MetfsTer13 
 De novo 
  
  
 GEN471R069 
 stop_gained 
 c.2261T>G 
 p.Leu754Ter 
 De novo 
  
 Simplex 
 GEN471R070 
 stop_gained 
 c.3170T>A 
 p.Leu1057Ter 
 De novo 
  
 Simplex 
 GEN471R071 
 frameshift_variant 
 c.1026dup 
 p.Val343CysfsTer56 
 De novo 
  
 Simplex 
 GEN471R072 
 frameshift_variant 
 c.1222_1223del 
 p.Lys408ValfsTer31 
 De novo 
  
 Simplex 
 GEN471R073 
 frameshift_variant 
 c.2424_2427del 
 p.Lys809SerfsTer19 
 De novo 
  
 Simplex 
 GEN471R074 
 frameshift_variant 
 c.2287dup 
 p.Ser763PhefsTer3 
 De novo 
  
 Simplex 
 GEN471R075 
 missense_variant 
 c.746A>G 
 p.Tyr249Cys 
 De novo 
  
 Simplex 
 GEN471R076 
 frameshift_variant 
 c.2496_2499del 
 p.Asn832LysfsTer81 
 De novo 
  
  
 GEN471R077 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 De novo 
  
 Simplex 
 GEN471R078 
 frameshift_variant 
 c.2491_2494del 
 p.Leu831IlefsTer82 
 De novo 
  
  
 GEN471R079 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R080 
 frameshift_variant 
 c.651_655del 
 p.Glu218Ter 
 De novo 
  
 Simplex 
 GEN471R081 
 frameshift_variant 
 c.2156dup 
 p.Tyr719Ter 
 Unknown 
  
  
 GEN471R082 
 frameshift_variant 
 c.103dup 
 p.Ile35AsnfsTer5 
 Unknown 
  
  
 GEN471R083 
 frameshift_variant 
 c.2287del 
 p.Ser763ProfsTer9 
 De novo 
  
  
 GEN471R084 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R085 
 stop_gained 
 c.2157C>A 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R086 
 stop_gained 
 c.2157C>A 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R087 
 frameshift_variant 
 c.1046_1047del 
 p.Leu349ArgfsTer49 
 De novo 
  
  
 GEN471R088 
 frameshift_variant 
 c.853_857del 
 p.Pro285AspfsTer27 
 De novo 
  
  
 GEN471R089 
 frameshift_variant 
 c.539_542del 
 p.Val180GlyfsTer17 
 De novo 
  
  
 GEN471R090 
 frameshift_variant 
 c.539_542del 
 p.Val180GlyfsTer17 
 De novo 
  
  
 GEN471R091 
 frameshift_variant 
 c.361_362del 
 p.Leu121GlyfsTer5 
 De novo 
  
  
 GEN471R092 
 frameshift_variant 
 c.334_335insA 
 p.Cys112Ter 
 De novo 
  
  
 GEN471R093 
 missense_variant 
 c.1568A>C 
 p.Asp523Ala 
 De novo 
  
  
 GEN471R094 
 missense_variant 
 c.1540T>G 
 p.Cys514Gly 
 De novo 
  
  
 GEN471R095 
 missense_variant 
 c.1535T>G 
 p.Leu512Arg 
 De novo 
  
  
 GEN471R096 
 missense_variant 
 c.253T>C 
 p.Phe85Leu 
 De novo 
  
  
 GEN471R097 
 frameshift_variant 
 c.819del 
 p.Lys274AsnfsTer31 
 De novo 
  
  
 GEN471R098 
 frameshift_variant 
 c.190dup 
 p.Thr64AsnfsTer35 
 De novo 
  
  
 GEN471R099 
 stop_gained 
 c.1102C>T 
 p.Gln368Ter 
 De novo 
  
  
 GEN471R100 
 frameshift_variant 
 c.2496_2499del 
 p.Asn832LysfsTer81 
 De novo 
  
  
 GEN471R101 
 stop_gained 
 c.2157C>A 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R102 
 frameshift_variant 
 c.3047dup 
 p.Ala1017GlyfsTer6 
 Familial 
 Maternal 
  
 GEN471R103 
 frameshift_variant 
 c.3047dup 
 p.Ala1017GlyfsTer6 
 Familial 
 Maternal 
  
 GEN471R104 
 stop_gained 
 c.2157C>A 
 p.Tyr719Ter 
 Unknown 
  
  
 GEN471R105 
 frameshift_variant 
 c.2318dup 
 p.Tyr774ValfsTer14 
 Unknown 
  
  
 GEN471R106 
 stop_gained 
 c.2382G>A 
 p.Trp794Ter 
 Unknown 
  
  
 GEN471R107 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 Unknown 
  
  
 GEN471R108 
 stop_gained 
 c.893T>G 
 p.Leu298Ter 
 Unknown 
  
  
 GEN471R109 
 frameshift_variant 
 c.1402_1403del 
 p.Glu468ThrfsTer2 
 Unknown 
  
  
 GEN471R110 
 frameshift_variant 
 c.1287dup 
 p.Ala430CysfsTer10 
 Unknown 
  
  
 GEN471R111 
 frameshift_variant 
 c.1046_1047del 
 p.Leu349ArgfsTer49 
 Unknown 
  
  
 GEN471R112 
 frameshift_variant 
 c.339del 
 p.Phe114SerfsTer47 
 Unknown 
  
  
 GEN471R113 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 Unknown 
  
  
 GEN471R114 
 frameshift_variant 
 c.287del 
 p.Val96AlafsTer65 
 Unknown 
  
  
 GEN471R115 
 missense_variant 
 c.110A>T 
 p.Asp37Val 
 Unknown 
  
  
 GEN471R116 
 frameshift_variant 
 c.2491_2494del 
 p.Leu831IlefsTer82 
 De novo 
  
  
 GEN471R117 
 frameshift_variant 
 c.2194_2197del 
 p.Leu732MetfsTer20 
 Unknown 
  
  
 GEN471R118 
 frameshift_variant 
 c.2231del 
 p.Glu744GlyfsTer9 
 Unknown 
  
  
 GEN471R119 
 stop_gained 
 c.1930C>T 
 p.Arg644Ter 
 Unknown 
  
  
 GEN471R120 
 frameshift_variant 
 c.2156dup 
 p.Tyr719Ter 
 Unknown 
  
  
 GEN471R121 
 frameshift_variant 
 c.3047dup 
 p.Ala1017GlyfsTer6 
 Unknown 
  
  
 GEN471R122 
 missense_variant 
 c.1931G>A 
 p.Arg644Gln 
 Unknown 
  
  
 GEN471R123 
 frameshift_variant 
 c.1713dup 
 p.Arg572GlufsTer6 
 Unknown 
  
  
 GEN471R124 
 frameshift_variant 
 c.2156dup 
 p.Tyr719Ter 
 Unknown 
  
  
 GEN471R125 
 missense_variant 
 c.2126C>T 
 p.Ser709Phe 
 Familial 
 Maternal 
  
 GEN471R126 
 missense_variant 
 c.2772G>C 
 p.Glu924Asp 
 Familial 
 Paternal 
  
 GEN471R127 
 missense_variant 
 c.3127G>T 
 p.Asp1043Tyr 
 Familial 
 Maternal 
  
 GEN471R128 
 frameshift_variant 
 c.642_651del 
 p.Asn214LysfsTer31 
 De novo 
  
 Simplex 
 GEN471R129 
 frameshift_variant 
 c.2314dup 
 p.Thr772AsnfsTer16 
 Unknown 
  
  
 GEN471R130 
 frameshift_variant 
 c.2317_2318del 
 p.Lys773ValfsTer14 
 Unknown 
  
  
 GEN471R131 
 stop_gained 
 c.1792C>T 
 p.Gln598Ter 
 De novo 
  
 Simplex 
 GEN471R132 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 De novo 
  
  
 GEN471R133 
 stop_gained 
 c.2157C>A 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R134 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 De novo 
  
  
 GEN471R135 
 frameshift_variant 
 c.3071_3072del 
 p.Glu1024AlafsTer7 
 Unknown 
  
  
 GEN471R136 
 frameshift_variant 
 c.2496_2499del 
 p.Asn832LysfsTer81 
 De novo 
  
  
 GEN471R137 
 missense_variant 
 c.3281G>A 
 p.Gly1094Glu 
 De novo 
  
  
 GEN471R138 
 frameshift_variant 
 c.2155del 
 p.Tyr719ThrfsTer9 
 De novo 
  
 Simplex 
 GEN471R139 
 stop_gained 
 c.790C>T 
 p.Arg264Ter 
 Unknown 
  
 Unknown 
 GEN471R140 
 stop_gained 
 c.2157C>A 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R141 
 synonymous_variant 
 c.1917T>C 
 p.Leu639%3D 
 De novo 
  
  
 GEN471R142 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 De novo 
  
  
 GEN471R143 
 missense_variant 
 c.1594C>T 
 p.Arg532Trp 
 De novo 
  
  
 GEN471R144 
 stop_gained 
 c.1102C>T 
 p.Gln368Ter 
 De novo 
  
  
 GEN471R145 
 missense_variant 
 c.715C>G 
 p.His239Asp 
 De novo 
  
  
 GEN471R146 
 frameshift_variant 
 c.3136_3137del 
 p.Gln1046ValfsTer6 
 Unknown 
  
  
 GEN471R147 
 frameshift_variant 
 c.3069_3072del 
 p.Arg1023SerfsTer3 
 Unknown 
  
  
 GEN471R148 
 frameshift_variant 
 c.3047dup 
 p.Ala1017GlyfsTer6 
 Unknown 
  
  
 GEN471R149 
 frameshift_variant 
 c.2825_2828del 
 p.Thr942ArgfsTer6 
 Unknown 
  
  
 GEN471R150 
 frameshift_variant 
 c.2457del 
 p.Lys819AsnfsTer10 
 Unknown 
  
  
 GEN471R151 
 frameshift_variant 
 c.2421_2422del 
 p.Arg808GlufsTer6 
 Unknown 
  
  
 GEN471R152 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 Unknown 
  
  
 GEN471R153 
 frameshift_variant 
 c.1239_1240del 
 p.Gln414ValfsTer25 
 Unknown 
  
  
 GEN471R154 
 frameshift_variant 
 c.1239_1240del 
 p.Gln414ValfsTer25 
 Unknown 
  
  
 GEN471R155 
 frameshift_variant 
 c.1049dup 
 p.Leu351SerfsTer48 
 Unknown 
  
  
 GEN471R156 
 frameshift_variant 
 c.1004_1005del 
 p.Lys335IlefsTer63 
 Unknown 
  
  
 GEN471R157 
 stop_gained 
 c.484C>T 
 p.Gln162Ter 
 Unknown 
  
  
 GEN471R158 
 frameshift_variant 
 c.539_542del 
 p.Val180GlyfsTer17 
 Unknown 
  
  
 GEN471R159 
 frameshift_variant 
 c.539_542del 
 p.Val180GlyfsTer17 
 De novo 
  
  
 GEN471R160 
 stop_gained 
 c.2213C>A 
 p.Ser738Ter 
 De novo 
  
  
 GEN471R161 
 inversion 
 c.-89-3923_201+2793inv 
  
 De novo 
  
 Simplex 
 GEN471R162 
 missense_variant 
 c.1084C>G 
 p.Gln362Glu 
 De novo 
  
  
 GEN471R163 
 stop_gained 
 c.2712dup 
 p.Asn905Ter 
 Familial 
  
  
 GEN471R164 
 frameshift_variant 
 c.2491_2494del 
 p.Leu831IlefsTer82 
 De novo 
  
  
 GEN471R165 
 frameshift_variant 
 c.2194_2197del 
 p.Leu732MetfsTer20 
 De novo 
  
  
 GEN471R166 
 stop_gained 
 c.2156dup 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R167 
 stop_gained 
 c.568C>T 
 p.Gln190Ter 
 De novo 
  
  
 GEN471R168 
 frameshift_variant 
 c.2496_2499del 
 p.Asn832LysfsTer81 
 De novo 
  
 Simplex 
 GEN471R169 
 frameshift_variant 
 c.3047_3048insA 
 p.Ala1017GlyfsTer6 
 Familial 
 Maternal 
 Multiplex 
 GEN471R170 
 missense_variant 
 c.311A>G 
 p.Lys104Arg 
 Unknown 
  
  
 GEN471R171 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R172 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R173 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R174 
 stop_gained 
 c.2157del 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R175 
 frameshift_variant 
 c.2496_2499del 
 p.Asn832LysfsTer81 
 De novo 
  
  
 GEN471R176 
 frameshift_variant 
 c.2496_2499del 
 p.Asn832LysfsTer81 
 De novo 
  
  
 GEN471R177 
 frameshift_variant 
 c.2496_2499del 
 p.Asn832LysfsTer81 
 De novo 
  
  
 GEN471R178 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 De novo 
  
  
 GEN471R179 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 De novo 
  
  
 GEN471R180 
 frameshift_variant 
 c.2222dup 
 p.Phe742LeufsTer2 
 De novo 
  
  
 GEN471R181 
 frameshift_variant 
 c.2189del 
 p.Arg730GlnfsTer3 
 De novo 
  
  
 GEN471R182 
 stop_gained 
 c.673C>T 
 p.Arg225Ter 
 De novo 
  
  
 GEN471R183 
 frameshift_variant 
 c.2491_2494del 
 p.Leu831IlefsTer82 
 De novo 
  
  
 GEN471R184 
 frameshift_variant 
 c.319del 
 p.Asn108IlefsTer53 
 De novo 
  
  
 GEN471R185 
 splice_site_variant 
 c.-5-1_-4del 
  
 De novo 
  
  
 GEN471R186 
 frameshift_variant 
 c.294_295del 
 p.Ser98ArgfsTer4 
 Unknown 
  
  
 GEN471R187 
 stop_gained 
 c.1360G>T 
 p.Glu454Ter 
 Unknown 
  
  
 GEN471R188 
 frameshift_variant 
 c.64dup 
 p.Ile22AsnfsTer3 
 De novo 
  
 Simplex 
 GEN471R189 
 stop_gained 
 c.498_499del 
 p.Tyr166Ter 
 De novo 
  
 Simplex 
 GEN471R190 
 stop_gained 
 c.673C>T 
 p.Arg225Ter 
 De novo 
  
  
 GEN471R191 
 missense_variant 
 c.2059T>C 
 p.Cys687Arg 
 De novo 
  
 Simplex 
 GEN471R192 
 stop_gained 
 c.2157C>A 
 p.Tyr719Ter 
 De novo 
  
  
 GEN471R193 
 stop_gained 
 c.2157C>A 
 p.Tyr719Ter 
 Unknown 
  
  
 GEN471R194 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 De novo 
  
 Simplex 
 GEN471R195 
 stop_gained 
 c.2157C>G 
 p.Tyr719Ter 
 De novo 
  
 Simplex 
 GEN471R196 
 missense_variant 
 c.2188C>G 
 p.Arg730Gly 
 De novo 
  
 Simplex 
 GEN471R197 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 De novo 
  
 Simplex 
 GEN471R198 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 De novo 
  
 Simplex 
 GEN471R199 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 De novo 
  
 Simplex 
 GEN471R200 
 frameshift_variant 
 c.2289del 
 p.Tyr764MetfsTer8 
 Unknown 
  
  
 GEN471R201 
 frameshift_variant 
 c.2355_2356del 
 p.Glu785AspfsTer2 
 De novo 
  
  
 GEN471R202 
 frameshift_variant 
 c.2491_2494del 
 p.Leu831IlefsTer82 
 De novo 
  
 Simplex 
 GEN471R203 
 stop_gained 
 c.2157C>A 
 p.Tyr719Ter 
 De novo 
  
 Simplex 
 GEN471R204 
 frameshift_variant 
 c.1676dup 
 p.His559GlnfsTer3 
 De novo 
  
  
 GEN471R205 
 inframe_deletion 
 c.370_381del 
 p.His124_Ile127del 
 De novo 
  
 Simplex 
 GEN471R206 
 frameshift_variant 
 c.1265dup 
 p.Gln423SerfsTer17 
 De novo 
  
  
 GEN471R207 
 stop_gained 
 c.2188C>T 
 p.Arg730Ter 
 Unknown 
  
  
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
20
Duplication
 1
 
20
Deletion-Duplication
 14
 
20
Deletion-Duplication
 1
 

Model Summary

The ADNP homozygous knock out causes embryonic lethality. The heterozygous mice have normal, slightly delayed development and show reduced neuronal survival and some changes in gene expression (e.g., some transcription factors like Pax6).

References

Type
Title
Author, Year
Additional
Activity-dependent neuroprotective protein: a novel gene essential for brain formation.
Primary
Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model.
Additional
Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model.
Additional
Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer's pathologies.
Additional
Sexual divergence in microtubule function: the novel intranasal microtubule targeting SKIP normalizes axonal transport and enhances memory.
Additional
Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome.
Additional
The autism/neuroprotection-linked ADNP/NAP regulate the excitatory glutamatergic synapse.
Additional
The autism-mutated ADNP plays a key role in stress response.
Additional
Microbiota changes associated with ADNP deficiencies: rapid indicators for NAP (CP201) treatment of the ADNP syndrome and beyond
Additional
Novel ADNP Syndrome Mice Reveal Dramatic Sex-Specific Peripheral Gene Expression With Brain Synaptic and Tau Pathologies
Model Type: Genetic
Model Genotype: Homozygous
Mutation: Exons 3,4 and 5 of the Adnp gene were replaced with a neomycin cassette and a thymidine kinase gene, using homologous recombination. Following germline transmission the hetereozygous knockouts were crossed to generate homozygous mice.
Allele Type: Targeted (knockout)
Strain of Origin: 129/Sv
Genetic Background: 129/Sv*C57BL/6
ES Cell Line: 129/Sv
Mutant ES Cell Line:
Model Source:
Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality: embryonic1
Increased
 Survival analysis
 E8-e9.5
Mortality/lethality: embryonic1
Increased
 Histology
 E8-e9.5
Gene expression1
Abnormal
 In situ hybridization (ish)
 E8-e8.5
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
2-Sep septin 2 4735 Q15019 LC-MS/MS
Havugimana PC , et al. 2012
ADNP activity-dependent neuroprotector homeobox 23394 Q9H2P0 ChIP
Aboonq MS , et al. 2011
APOE apolipoprotein E 11816 P08226 IP/WB
Mandel S , et al. 2007
ARID1A AT rich interactive domain 1A (SWI-like) 8289 O14497 IP/WB
Mandel S and Gozes I 2007
CBX1 chromobox homolog 1 10951 P83916 in vitro binding assay; Co-localization
MS; IP/WB
Rosnoblet C , et al. 2011
CBX3 chromobox homolog 3 11335 Q13185 in vitro binding assay; Co-localization
MS; IP/WB
Rosnoblet C , et al. 2011
CBX5 chromobox homolog 5 23468 Q61686 in vitro binding assay
MS; IP/WB
Rosnoblet C , et al. 2011
CDC27 cell division cycle 27 996 G3V1C4 Y2H
Wang J , et al. 2011
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 ChIP-chip
Subtil-Rodrguez A , et al. 2013
CTSC cathepsin C 13032 P97821 IP/WB
Mandel S , et al. 2007
CTSZ cathepsin Z 64138 Q9WUU7 IP/WB
Mandel S , et al. 2007
EB1 Microtubule-associated protein RP/EB family member 1 22919 Q15691 in silico target prediction
Oz S , et al. 2014
EB2 Microtubule-associated protein RP/EB family member 2 10982 Q15555 in silico target prediction
Oz S , et al. 2014
EB3 Microtubule-associated protein RP/EB family member 3 22924 Q9UPY8 in silico target prediction
Oz S , et al. 2014
EBNA1BP2 EBNA1 binding protein 2 10969 H7C2Q8 LC-MS/MS
Havugimana PC , et al. 2012
EMD emerin 2010 P50402 LC-MS/MS
Havugimana PC , et al. 2012
FMR1 fragile X mental retardation 1 14265 P35922 HITS-CLIP
Darnell JC , et al. 2011
H3F3A H3 histone, family 3A 3020 P84243 in vitro binding assay; IP; LC-MS/MS; IP/WB; Co-localization
Mosch K , et al. 2011
HBB hemoglobin, beta adult major chain 15129 P02088 ChIP
Dresner E , et al. 2012
HDAC1 histone deacetylase 1 3065 Q13547 LC-MS/MS
Joshi P , et al. 2013
HDAC11 histone deacetylase 11 79885 Q96DB2 LC-MS/MS
Joshi P , et al. 2013
HDAC7 histone deacetylase 7 51564 Q8WUI4 IP; LC-MS/MS
Huttlin EL , et al. 2015
MAP1LC3B microtubule-associated protein 1 light chain 3 beta 81631 Q9GZQ8 IP/WB
Y2H
Vinayagam A , et al. 2011
MAPRE1 microtubule-associated protein, RP/EB family, member 1 22919 Q15691 in vitro binding assay; IP/WB
Oz S , et al. 2014
Mapre2 microtubule-associated protein, RP/EB family, member 2 212307 Q8R001 IP/WB
Oz S , et al. 2014
MAPRE3 microtubule-associated protein, RP/EB family, member 3 22924 Q9UPY8 in vitro binding assay; IP/WB
Oz S , et al. 2014
MTNR1A melatonin receptor 1A 17773 Q61184 IP/WB
Mandel S , et al. 2007
MYC v-myc myelocytomatosis viral oncogene homolog (avian) 4609 P01106 Size-exclusion chromatography (SEC); MS
Agrawal P , et al. 2010
MYL2 myosin, light polypeptide 2, regulatory, cardiac, slow 17906 P51667 IP/WB
Mandel S , et al. 2007
NCAPH2 non-SMC condensin II complex, subunit H2 29781 Q6IBW4 IP; LC-MS/MS
Huttlin EL , et al. 2015
NEUROG1 neurogenin 1 18014 P70660 IP/WB
Mandel S , et al. 2007
NFIA nuclear factor I/A 4774 Q12857 LC-MS/MS
Havugimana PC , et al. 2012
PHGDH phosphoglycerate dehydrogenase 26227 O43175 LC-MS/MS
Havugimana PC , et al. 2012
POLG2 polymerase (DNA directed), gamma 2, accessory subunit NM_007215 E5KS15 IP; LC-MS/MS
Huttlin EL , et al. 2015
QPRT Nicotinate-nucleotide pyrophosphorylase [carboxylating] 23475 Q15274 IP; LC-MS/MS
Huttlin EL , et al. 2015
Rbfox1 RNA binding protein, fox-1 homolog (C. elegans) 1 268859 Q9JJ43 HITS-CLIP
Weyn-Vanhentenryck SM , et al. 2014
RRS1 RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) 23212 Q15050 LC-MS/MS
Havugimana PC , et al. 2012
SAP18 Sin3A-associated protein, 18kDa 10284 O00422 LC-MS/MS
Havugimana PC , et al. 2012
Sfpq splicing factor proline/glutamine-rich 71514 Q8VIJ6 IP/WB
Schirer Y , et al. 2014
SIRT7 sirtuin 7 51547 Q9NRC8 LC-MS/MS
Tsai YC , et al. 2012
Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 67155 Q6DIC0 IP/WB
Schirer Y , et al. 2014
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 6597 A7E2E1 IP/WB
Mandel S and Gozes I 2007
SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 6601 Q8TAQ2 IP/WB
Mandel S and Gozes I 2007
Srcin1 SRC kinase signaling inhibitor 1 56013 Q9QWI6 IP/WB
Oz S , et al. 2014
SUMO2 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) 6613 P61956 LC-MS/MS
Bruderer R , et al. 2011
TOP3B topoisomerase (DNA) III beta 8940 O95985 IP/WB
Xu D , et al. 2013
Tubb2a tubulin, beta 2A class IIA 22151 Q7TMM9 IP/WB
Oz S , et al. 2014
UBC ubiquitin C 7316 P63279 LC-MS/MS
Danielsen JM , et al. 2010
ZNF524 Zinc finger protein 524 147807 Q96C55 IP; LC-MS/MS
Huttlin EL , et al. 2015
ZNF581 zinc finger protein 581 51545 Q9P0T4 IP; LC-MS/MS
Huttlin EL , et al. 2015
ZSCAN20 zinc finger and SCAN domain containing 20 7579 P17040 IP; LC-MS/MS
Huttlin EL , et al. 2015

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