Developmental Brain Disorder Gene Database

Missense Gene

Gene

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Missense

ARID1B

HGNC:18040 (protein-coding gene)

AT-rich interaction domain 1B

Unique Cases:: 4

Disorders:: ID, ASD, EP

Last Updated:: November 4, 2024

Gene Summary:

Gene Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). Durin... (Source: Uniprot)

Previous symbols: No previous symbols

Alias symbols: KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5, SMARCF2

Chromosomal Location: 6q25.3

Genomic Coordinates: GRCh37:chr6:157098989-157531913; GRCh38:chr6:156776026-157210779

Associated Disorders: Intellectual Disability, Autism, Epilepsy

Predictive Scores:

HI Score (Decipher): 14.17

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): Definitive3 Strong2 Supportive1

Cases:

Publications:

Aspromonte MC et. al., Characterization of intellectual disability and autism comorbidity through gene panel sequencing., Hum Mutat, 2019

Yan H et. al., Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene., BMC Med Genet, 2019

Suzuki T et. al., A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders., Ann Clin Transl Neurol, 2020

External References:

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.