SETD1B (SET domain containing 1B, histone lysine methyltransferase)

2014-10-01  

Identity

HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
IDDSELD,KMT2G,Set1B
FUSION GENES

Other Information

Locus ID:

NCBI: 23067
MIM: 611055
HGNC: 29187
Ensembl: ENSG00000139718

Variants:

dbSNP: 23067
ClinVar: 23067
TCGA: ENSG00000139718
COSMIC: SETD1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139718ENST00000267197A0A0A0MQV9
ENSG00000139718ENST00000542440Q9UPS6
ENSG00000139718ENST00000604567Q9UPS6
ENSG00000139718ENST00000619791Q9UPS6

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
291382782017A cytoplasmic COMPASS is necessary for cell survival and triple-negative breast cancer pathogenesis by regulating metabolism.17
229279432012Rbm15-Mkl1 interacts with the Setd1b histone H3-Lys4 methyltransferase via a SPOC domain that is required for cytokine-independent proliferation.13
249252202014Frameshift mutation of a histone methylation-related gene SETD1B and its regional heterogeneity in gastric and colorectal cancers with high microsatellite instability.12
271065952016An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.10
293222462018De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.10
299449502018Expression and clinical significance of COMPASS family of histone methyltransferases in clear cell renal cell carcinoma.3
309771202019SET domain containing 1B gene is mutated in primary hepatic neuroendocrine tumors.2
306286962019High‑level SETD1B gene expression is associated with unfavorable prognosis in hepatocellular carcinoma.1
311102342019A novel de novo frameshift variant in SETD1B causes epilepsy.1

Citation

Dessen P

SETD1B (SET domain containing 1B, histone lysine methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-10-01

Online version: http://atlasgeneticsoncology.org/gene/54906/setd1b