Developmental Brain Disorder Gene Database
LoF Variant Gene
Gene
Search
Tier
1
- Unique Cases:
- 10
- Disorders:
- ID, ASD, EP, CP
- Last Updated:
- January 24, 2024
Gene Summary:
- DBD Genes Classification
- SETD2 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
- Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate (PubMed:16118227, PubMed:19141475, PubMed:21526191, PubMed:21792193, PubMed:23043551, PubMed:27474439). It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro (PubMed:19332550). Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation (By similarity). Plays a role in chromatin structure modu... (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A
- Chromosomal Location
- 3p21.31
- Genomic Coordinates
- GRCh37:chr3:47057898-47205467
- GRCh38:chr3:47016431-47164113
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy, Cerebral Palsy
Predictive Scores:
- HI Score (Decipher)
8.64
- pLI (gnomAD)
1.00
- LOEUF (gnomAD)
0.21
Classifications from External Sources:
- SFARI Score (SFARI)
1
- DDG2P Classification (DDG2P)
No Classification
- ClinGen Classification (ClinGen)
Strong1
Definitive1
- GenCC Classification (GenCC)
Supportive1 Strong3 Definitive1
Cases:
Publications:
External References:
![Medgen](https://dbd.geisingeradmi.org/external-resources/medgen.png)
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.
![Gene reviews](https://dbd.geisingeradmi.org/external-resources/gene_reviews.png)
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.
![Decipher](https://dbd.geisingeradmi.org/external-resources/decipher-logo-grch38.png)
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.
![SFARI](https://dbd.geisingeradmi.org/external-resources/SFARI_Logo_2.jpeg)
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.
![ClinGen](https://dbd.geisingeradmi.org/external-resources/logo.png)
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.
![GenCC](https://dbd.geisingeradmi.org/external-resources/genecc-logo.jpeg)
GenCC
The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
![gnomAD](https://dbd.geisingeradmi.org/external-resources/gnomad.jpeg)
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.