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9785 DHX38

9785

DHX38

DEAH-box helicase 38

protein-coding

Homo sapiens

基因描述

Type Description
Definition DEAH-box helicase 38

研究结论

Date Results Publications
2019-04-20 12:32:00 We identified a second deleterious DHX38 variant that segregates with arRP in two families, providing additional evidence that DHX38 is involved in RP etiology. DHX38 encodes for pre-mRNA splicing factor PRP16, which is important in catalyzing pre-mRNA splicing. 30208423
2015-01-31 12:41:00 DHX38 is the first pre-mRNA splicing gene that is putatively associated with autosomal-recessive inherited retinitis pigmentosa. 24737827

名称对应

Type IDs
Synonymous DDX38, PRP16, PRPF16, RP84
Gene
UniProtKB-ID: PRP16_HUMAN
UniprotKB: Q92620
UniParc: UPI000002FBFE, UPI00017A7F6B
EMBL: BC008340, CH471166, AC009087, BC004235, AC004682, D86977, AK301074, AF038391
Ensembl: ENSG00000140829
KO: hsa:9785
Nucleutide sequences
EMBL-CDS: AAC27431.1, BAG62680.1, AAH04235.1, EAW59180.1, BAA13213.2, EAW59190.1, AAH08340.1, AAC39729.1
Ensembl_TRS: ENST00000268482
Protein sequencees
Ensembl_PRO: ENSP00000268482
RefSeq: XP_011521786.1, NP_054722.2, XP_016879402.1, XP_005256326.1, XP_011521787.1
Others
UniRef100: UniRef100_Q92620
UniRef90: UniRef90_Q92620
UniRef50: UniRef50_Q92620
UniGene: Hs.151218
CCDS: CCDS10907.1

全选

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