Identity
HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
IDDSELD,KMT2G,Set1B
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23067
MIM: 611055
HGNC: 29187
Ensembl: ENSG00000139718
Variants:
dbSNP: 23067
ClinVar: 23067
TCGA: ENSG00000139718
COSMIC: SETD1B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000139718 | ENST00000267197 | A0A0A0MQV9 |
| ENSG00000139718 | ENST00000542440 | Q9UPS6 |
| ENSG00000139718 | ENST00000604567 | Q9UPS6 |
| ENSG00000139718 | ENST00000619791 | Q9UPS6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38048716 | 2024 | Phenotypic spectrum of SETD1B-related disorder: Myoclonic absence seizures and concurrent intellectual disability - Insights from two cases. | 0 |
| 38048716 | 2024 | Phenotypic spectrum of SETD1B-related disorder: Myoclonic absence seizures and concurrent intellectual disability - Insights from two cases. | 0 |
| 37030068 | 2023 | Molecular insight into the SETD1A/B N-terminal region and its interaction with WDR82. | 1 |
| 37030068 | 2023 | Molecular insight into the SETD1A/B N-terminal region and its interaction with WDR82. | 1 |
| 32546566 | 2021 | SETD1B-associated neurodevelopmental disorder. | 14 |
| 34345025 | 2021 | Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. | 9 |
| 32546566 | 2021 | SETD1B-associated neurodevelopmental disorder. | 14 |
| 34345025 | 2021 | Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. | 9 |
| 30628696 | 2019 | High‑level SETD1B gene expression is associated with unfavorable prognosis in hepatocellular carcinoma. | 4 |
| 30977120 | 2019 | SET domain containing 1B gene is mutated in primary hepatic neuroendocrine tumors. | 5 |
| 31110234 | 2019 | A novel de novo frameshift variant in SETD1B causes epilepsy. | 5 |
| 31685013 | 2019 | A genome-wide DNA methylation signature for SETD1B-related syndrome. | 28 |
| 30628696 | 2019 | High‑level SETD1B gene expression is associated with unfavorable prognosis in hepatocellular carcinoma. | 4 |
| 30977120 | 2019 | SET domain containing 1B gene is mutated in primary hepatic neuroendocrine tumors. | 5 |
| 31110234 | 2019 | A novel de novo frameshift variant in SETD1B causes epilepsy. | 5 |
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
