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63035 BCORL1

63035

BCORL1

BCL6 corepressor like 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition BCL6 corepressor like 1

研究结论

Date Results Publications
2020-12-12 13:30:00 [Clinical Characteristics and Prognostic Significance of BCOR/BCORL1 Gene Mutation in Patients with Myelodysplastic Syndromes]. 33283733
2020-07-18 10:46:00 patients with acquired Acquired pure red cell aplasia may have clonal gene mutations. The patients with BCOR and BCORL1 mutations may suggest a better response to IST compared with those with other mutations. 32594217
2020-04-25 10:57:00 We report five individuals from three pedigrees with phenotypes including intellectual disability, behavioral difficulties, and dysmorphic features who were found via whole exome sequencing to have variants in BCORL1. In silico analysis of these variants strongly suggests pathogenicity. We propose that hemizygous pathogenic variants in BCORL1 underlie a newly identified X-linked epigenetic syndrome. 30941876
2018-12-22 11:55:00 Either endogenous BCORL1 silencing or ectopic BCORL1(Q1076H) expression mimicked the effects of a CRISPR/Cas9-edited BCORL1(Q1076H) locus. 29605720
2016-10-22 11:23:00 Studied the clinical significance of BCORL1 and its role in the metastasis of HCC. 26879601

名称对应

Type IDs
Synonymous BCoR-L1, CXorf10
Gene
UniProtKB-ID: BCORL_HUMAN
UniprotKB: Q5H9F3
UniParc: UPI00015F45CA, UPI00001B4EFB, UPI00015F45CB
EMBL: Z82208, AL034405, AL096777, AK074089, AL136450, AK124676
Ensembl: ENSG00000085185
KO: hsa:63035
Nucleutide sequences
EMBL-CDS: BAC85922.1, BAB84915.1, CAB46626.1
Ensembl_TRS: ENST00000540052, ENST00000218147
Protein sequencees
Ensembl_PRO: ENSP00000437775, ENSP00000218147
RefSeq: NP_001366380.1, NP_001171701.1, XP_005262510.2, XP_006724839.1, XP_005262512.2, NP_001366379.1, XP_006724842.1, XP_016885211.1, XP_016885210.1, XP_005262513.2, XP_006724840.1, NP_068765.3
Others
UniRef100: UniRef100_Q5H9F3
UniRef90: UniRef90_Q5H9F3
UniRef50: UniRef50_Q5H9F3
UniGene: Hs.496748
CCDS: CCDS14616.1

全选

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