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6942 TCF20

6942

TCF20

transcription factor 20

protein-coding

Homo sapiens

基因描述

Type Description
Definition transcription factor 20

研究结论

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

名称对应

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

全选

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