Developmental Brain Disorder Gene Database

Missense Gene

Gene

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Missense

NSD1

HGNC:14234 (protein-coding gene)

nuclear receptor binding SET domain protein 1

Unique Cases:: 16

Disorders:: ID, ASD

Last Updated:: November 4, 2024

Gene Summary:

Gene Function: Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context. {ECO:0000269|PubMed:21196496}. (Source: Uniprot)

Previous symbols: STO

Alias symbols: ARA267, FLJ22263, KMT3B

Chromosomal Location: 5q35.3

Genomic Coordinates: GRCh37:chr5:176560080-176727214; GRCh38:chr5:177131835-177300213

Associated Disorders: Intellectual Disability, Autism

Predictive Scores:

HI Score (Decipher): 29.19

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): Definitive5 Strong2 Supportive1

Cases:

Publications:

Coe BP et. al., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity., Nat Genet, 2019

Lindstrand A et. al., From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability., Genome Med, 2019

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.