Developmental Brain Disorder Gene Database

LoF Variant Gene

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Tier

1

SRCAP

HGNC:16974 (protein-coding gene)

Snf2 related CREBBP activator protein

Unique Cases:
18
Disorders:
ID, ASD
Last Updated:
November 4, 2024

Summary
Cases
Publications
External

Gene Summary:

DBD Genes Classification
SRCAP is a High Confidence candidate gene classified as Tier 1. Tier 1 genes have three or more de novo pathogenic loss-of-function variants.
Gene Function
Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and Notch- mediated transcription. {ECO:0000269|PubMed:10347196, ECO:0000269|PubMed:11522779, ECO:0000269|PubMed:14500758, ECO:0000269|PubMed:16024792, ECO:0000269|PubMed:16634648, ECO:000... (Source: Uniprot)
Previous symbols
No previous symbols
Alias symbols
KIAA0309, SWR1, DOMO1
Chromosomal Location
16p11.2
Genomic Coordinates
GRCh37:chr16:30710462-30751450
GRCh38:chr16:30699171-30741409
Associated Disorders
Intellectual Disability, Autism

Predictive Scores:

HI Score (Decipher)

34.43

pLI (gnomAD)

1.00

LOEUF (gnomAD)

0.1

Classifications from External Sources:

SFARI Score (SFARI)

1

DDG2P Classification (DDG2P)

Definitive

ClinGen Classification (ClinGen)

Definitive1

GenCC Classification (GenCC)

Definitive4 Supportive1 Strong2

Publications:

Homma TK et. al., Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing., J Pediatr, 2019
Lee H et. al., Clinical exome sequencing for genetic identification of rare Mendelian disorders., JAMA, 2014
C Yuen RK et. al., Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder., Nat Neurosci, 2017
Seifert W et. al., Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome., BMC Med Genet, 2014
Zhu X et. al., Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios., Genet Med, 2015
Reschen M et. al., Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation., Am J Med Genet A, 2012
Nagasaki K et. al., Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation., Am J Med Genet A, 2014
Kehrer M et. al., Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34., Clin Genet, 2014
Choi EM et. al., The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing., Korean J Pediatr, 2018
Arteche-López A et. al., Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test., Genes (Basel), 2021
Brea-Fernández AJ et. al., Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability., Eur J Hum Genet, 2022
Lindstrand A et. al., Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability., Genet Med, 2022
et. al., , ,

NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
NCBI: Gene

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
Gene Reviews

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.
DECIPHER

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.
SFARI

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
GenCC

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
gnomAD
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Autism & Developmental Medicine Institute