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57122 NUP107

57122

NUP107

nucleoporin 107

protein-coding

Homo sapiens

基因描述

Type Description
Definition nucleoporin 107

研究结论

Date Results Publications
2018-09-29 12:15:00 Whole exome sequencing identified a novel and rare missense variant in the NUP107 gene (c.1063C>T, p.R355C) in both sisters with HH. 29363275
2018-03-10 11:38:00 NUP107 was suggested as a candidate in a family with nephrotic syndrome and developmental delay. 28280135
2018-01-13 13:03:00 Associations between biallelic NUP107 mutations and age at onset in children with steroid-resistant nephrotic syndrome. 27190346
2018-01-13 12:55:00 a variant in the 3'-UTR region Nup107 unique to sensitivity to platinum in ovarian cancer, was identified. 28562428
2016-05-21 12:45:00 Nup107-160 complex and its partner Elys dynamically colocalize with Nup98 and CRM1 into endogenous GLFG bodies present in specific HeLa sublines. 25904327

名称对应

Type IDs
Synonymous NPHS11, NUP84, ODG6
Gene
UniProtKB-ID: NU107_HUMAN
UniprotKB: P57740
UniParc: UPI00001BDA48, UPI00017A84BE, UPI000012FC0B
EMBL: AJ295745, BC017167, AC090061, AC124890, AK302773, BC043343
Ensembl: ENSG00000111581
KO: hsa:57122
Nucleutide sequences
EMBL-CDS: AAH17167.1, AAH43343.1, CAC03716.1, BAG63979.1
Ensembl_TRS: ENST00000229179, ENST00000539906, ENST00000378905
Protein sequencees
Ensembl_PRO: ENSP00000229179, ENSP00000441448, ENSP00000368185
RefSeq: NP_001317121.1, XP_005269094.1, NP_065134.1
Others
UniRef100: UniRef100_P57740
UniRef90: UniRef90_P57740
UniRef50: UniRef50_P57740
UniGene: Hs.524574
CCDS: CCDS8985.1, CCDS81712.1

全选

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研究热度

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