Developmental Brain Disorder Gene Database
Missense Gene
Gene
Search
Missense
- Unique Cases:
- 4
- Disorders:
- ID, ASD, EP
- Last Updated:
- January 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
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:
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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.
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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.
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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.
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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.
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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.
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GenCC
The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
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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.