SETD1A SET domain containing 1A, histone lysine methyltransferase

Gene ID: 9739, updated on 27-Nov-2024
Gene type: protein coding
Also known as: Set1; EPEDD; EPEO2; KMT2F; Set1A; NEDSID

Summary

The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Epilepsy, early-onset, with or without developmental delay MedGen: C5882670OMIM: 618832GeneReviews: Not available	See labs
Neurodevelopmental disorder with speech impairment and dysmorphic facies MedGen: C5436699OMIM: 619056GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-02-28) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2018-02-28) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 16p11.2

Sequence:: Chromosome: 16; NC_000016.10 (30957754..30984664)

Total number of exons:: 23

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SETD1A variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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