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254065 BRWD3

254065

BRWD3

bromodomain and WD repeat domain containing 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition bromodomain and WD repeat domain containing 3

研究结论

Date Results Publications
2017-12-02 11:01:00 BCL7A, BRWD3, and AUTS2 demonstrate significantly higher mutation frequencies among AA cases. These genes are all involved in translocations in B-cell malignancies. Moreover, we detected a significant difference in mutation frequency of TP53 and IRF4 with frequencies higher among CA cases. Our study provides rationale for interrogating diverse tumor cohorts to best understand tumor genomics across populations. 29166413
2014-12-20 12:39:00 A nonsense mutation in BRWD3 in a family with X-linked intellectual disability associated with macrocephaly. 24462886
2012-06-09 11:23:00 potential serological biomarker of breast cancer 22024541
2010-05-12 21:01:00 Includes the identification of truncating mutations in this gene that segregated with mental retardation in the families tested. 19377476
2010-01-21 00:00:00 BRWD3 is therefore a new gene implicated in the etiology of XLMR associated with macrocephaly and may cause disease by altering intracellular signaling pathways affecting cellular proliferation. 17668385

名称对应

Type IDs
Synonymous BRODL, MRX93
Gene
UniProtKB-ID: BRWD3_HUMAN
UniprotKB: Q6RI45
UniParc: UPI0001AE6FE3, UPI00004185B7, UPI000045785B, UPI0001E88EAC, UPI0001E88EAB
EMBL: AK095887, AY497054, AY497047, AL669934, AY497059, AY497058, AY497051, AY497048, AY497056, AY497046, AY497052, AL512504, AY497055, AY497057, BC111490, AY497060, AY497049, AY497053, AY497050, AL590031
Ensembl: ENSG00000165288
KO: hsa:254065
Nucleutide sequences
EMBL-CDS: AAS45479.1, AAS45480.1, BAC04641.1, AAS45485.1, AAS45481.1, AAS45476.1, AAS45478.1, AAS45471.1, AAS45475.1, AAS45474.1, AAS45483.1, AAI11491.1, AAS45472.1, AAS45482.1, AAS45473.1, AAS45477.1, AAS45484.1
Ensembl_TRS: ENST00000373275
Protein sequencees
Ensembl_PRO: ENSP00000362372
RefSeq: XP_016884874.1, XP_016884873.1, XP_005262170.1, NP_694984.5
Others
UniRef100: UniRef100_Q6RI45
UniRef90: UniRef90_Q6RI45
UniRef50: UniRef50_Q6RI45
UniGene: Hs.147027, Hs.613180
CCDS: CCDS14447.1

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