Gene
SETD1B
SET domain containing 1B, histone lysine methyltransferase
- HGNC 29187(opens in a new tab)
- Ensembl gene ENSG00000139718(opens in a new tab)
- NCBI Gene 23067(opens in a new tab)
Summary
- Cytogenetic location
- 12q24.31
- Coordinates
- Chromosome 12: 121,804,009–121,832,656 (GRCh38)
- Exons
- 17 exons across 28.6 kb
- Protein
- 1,966 amino acids
- Also known as
- KIAA1076, Set1B, KMT2G
- MANE Select transcript
- ENST00000604567.6NM_001353345.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads SETD1B yet. The test sequences your whole genome, so your data includes it all the same.
How SETD1B is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 8.6 kb of the gene's 28.6 kb; 5,901 of those bases code for the protein.
How a genome test reads SETD1B
58
positions in SETD1B where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 28.6 kb of SETD1B, introns included, not only the 8.6 kb of exons.
Traits linked to SETD1B
The Human Phenotype Ontology lists these as features of the rare conditions SETD1B can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SETD1B gene: SET domain containing 1B, histone lysine methyltransferase. Retrieved 16 October 2026, from https://dantelabs.com/genes/setd1b
Dante Labs. SETD1B gene: SET domain containing 1B, histone lysine methyltransferase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/setd1b
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