| Type | Description |
|---|---|
| Definition | SET domain containing 1B, histone lysine methyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2020-08-01 12:53:00 | Study identify a specific hypermethylation signature associated with loss of function mutations in the SETD1B gene which may be used as an epigenetic marker supporting the diagnosis of syndromic SETD1B-related diseases. | 31685013 |
| 2020-02-01 12:27:00 | Results show that SETD1B is the most frequently mutated gene along with TP53 in primary hepatic neuroendocrine tumors (PHNETs). A biological analysis suggests that one of the three SETD1B mutants, A1054del, promotes cell proliferation, migration and invasion compared to wild-type SETD1B. Our work unveils that SETD1B A1054del mutant is functional in PHNET and implicates this gene on PHNET pathogenesis. | 30977120 |
| 2019-12-07 11:02:00 | we report a first epilepsy patient with a frameshift variant in SETD1B, emphasizing a possible pathomechanistic association of SETD1B abnormality with neurodevelopmental delay with epilepsy. | 31110234 |
| 2019-05-25 12:06:00 | the results demonstrated that SETD1B is essential in the progression of hepatocellular carcinoma and may be used as a potential prognostic marker and therapeutic target in hepatocellular carcinoma. | 30628696 |
| 2019-04-20 10:51:00 | SETD1B aberration is likely to be the core defect in 12q24.3 deletion syndrome. | 29322246 |
| Type | IDs |
|---|---|
| Synonymous | KMT2G, Set1B |
| Gene |
UniProtKB-ID:
SET1B_HUMAN
UniprotKB:
Q9UPS6
UniParc:
UPI00006C12ED,
UPI00021188EB
EMBL:
AC084018,
AC079360,
AB028999,
JF813787
Ensembl:
ENSG00000139718
|
| Nucleutide sequences |
EMBL-CDS:
AEG67286.1,
BAA83028.1
Ensembl_TRS:
ENST00000604567,
ENST00000619791,
ENST00000542440
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000442924,
ENSP00000474253,
ENSP00000481531
RefSeq:
XP_006719359.1,
NP_001340274.1,
XP_024304666.1
|
| Others |
UniRef100:
UniRef100_Q9UPS6
UniRef90:
UniRef90_Q9UPS6
UniRef50:
UniRef50_Q9UPS6
UniGene:
Hs.507122
CCDS:
CCDS86338.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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