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346007 EYS

346007

EYS

eyes shut homolog

protein-coding

Homo sapiens

基因描述

Type Description
Definition eyes shut homolog

研究结论

Date Results Publications
2021-04-13 10:09:00 EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening. 33247286
2021-04-03 13:32:00 Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations. 31944634
2021-04-03 13:29:00 Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree. 32436957
2020-12-05 13:03:00 Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High 32218477
2020-06-20 11:02:00 These results suggest that EYS polymorphism may be associated with lumbar disc herniation among Han Chinese population. It also opens up a new exploration direction for the etiology of lumbar disc herniation. 31359629

名称对应

Type IDs
Synonymous C6orf178, C6orf179, C6orf180, EGFL10, EGFL11, RP25, SPAM, bA166P24.2, bA307F22.3, bA74E24.1, dJ1018A4.2, dJ22I17.2, dJ303F19.1
Gene
UniProtKB-ID: EYS_HUMAN
UniprotKB: Q5T1H1
UniParc: UPI0001AE72B3, UPI000188F466, UPI00001D812F, UPI00001D690D
EMBL: AL589916, AL109612, AL050329, AL109922, AL357375, FM209056, AL133322, AL450394, AL078597, AL450319, BC133011, AL590784, AL137007, AL356454, AL365217, AL132767, AL354719, BC133013, AL590546, AL603767, AL353669, FJ416331, AY358133, AL353153, AL355357, AL450324, AL354913
Ensembl: ENSG00000188107
KO: hsa:346007
Nucleutide sequences
EMBL-CDS: CAB99359.1, AAI33014.1, ACJ37365.1, AAI33012.1, AAQ88500.1, CAR64275.1
Gene_ORFName: UNQ9424/PRO34591
Ensembl_TRS: ENST00000342421, ENST00000370621, ENST00000393380, ENST00000503581
Protein sequencees
Ensembl_PRO: ENSP00000377042, ENSP00000341818, ENSP00000359655, ENSP00000424243
RefSeq: NP_001136273.1, NP_001278938.1, NP_001136272.1, NP_938024.1
Others
UniRef100: UniRef100_Q5T1H1
UniRef90: UniRef90_Q5T1H1
UniRef50: UniRef50_Q5T1H1
UniGene: Hs.25067
CCDS: CCDS47445.1, CCDS47446.1, CCDS4967.1, CCDS78156.1

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