Type | Description |
---|---|
Definition | transcription factor 20 |
Date | Results | Publications |
---|---|---|
2020-02-08 12:38:00 | We provide valuable data regarding the prognosis and clinical manifestations of patients with variants in TCF20. | 30739909 |
2019-06-15 10:56:00 | TCF20 pathogenic variants are associated with a novel syndrome manifesting clinical characteristics similar to those observed in Smith-Magenis syndrome. | 30819258 |
2017-07-15 12:10:00 | Nonsense and one frameshift variant of TCF20 were identified the patients with intellectual disability and postnatal overgrowth. Such de novo variants of TCF20 may represent a novel differential diagnosis in the overgrowth syndrome spectrum. | 27436265 |
2015-08-01 10:32:00 | mutations in TCF20 are associated with Autism spectrum disorders | 25228304 |
2014-09-06 10:46:00 | SPBP is a transcriptional coactivator of NRF2 regulating expression of the autophagy receptor p62. | 24416372 |
Type | IDs |
---|---|
Synonymous | AR1, SPBP, TCF-20 |
Gene |
UniProtKB-ID:
TCF20_HUMAN,
W5ZR30_HUMAN
UniprotKB:
Q9UGU0,
W5ZR30
UniParc:
UPI00001A95D8,
UPI00001A95D9
EMBL:
KF851355,
AL031346,
AB006630,
BX247885,
U19345,
AY007595,
CH471095
Ensembl:
ENSG00000283681,
ENSG00000282892,
ENSG00000280467,
ENSG00000283026,
ENSG00000262024,
ENSG00000281897,
ENSG00000100207,
ENSG00000276461
KO:
hsa:6942
|
Nucleutide sequences |
EMBL-CDS:
AAG28930.1,
EAW60495.1,
BAA22961.1,
AAC36392.1,
AHI43789.1,
EAW60496.1
Gene_ORFName:
hCG_41553
Ensembl_TRS:
ENST00000634616,
ENST00000635421,
ENST00000635146,
ENST00000335626,
ENST00000637355,
ENST00000621408,
ENST00000629538,
ENST00000636799,
ENST00000626726,
ENST00000628774,
ENST00000626486,
ENST00000619505,
ENST00000576946,
ENST00000359486,
ENST00000574943,
ENST00000634489
|
Protein sequencees |
Ensembl_PRO:
ENSP00000483199,
ENSP00000487465,
ENSP00000460328,
ENSP00000489215,
ENSP00000489006,
ENSP00000460587,
ENSP00000486940,
ENSP00000490305,
ENSP00000489734,
ENSP00000489099,
ENSP00000352463,
ENSP00000487302,
ENSP00000489614,
ENSP00000478503,
ENSP00000487296,
ENSP00000335561
RefSeq:
NP_001365347.1,
NP_005641.1,
NP_852469.1,
XP_011528655.1,
XP_005261779.1
|
Others |
UniRef100:
UniRef100_Q9UGU0
UniRef90:
UniRef90_Q9UGU0
UniRef50:
UniRef50_Q9UGU0
UniGene:
Hs.475018
CCDS:
CCDS14033.1,
CCDS14032.1
|
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Refseq |
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