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415 ARSE

415

ARSE

arylsulfatase E

protein-coding

Homo sapiens

基因描述

Type Description
Definition arylsulfatase E

研究结论

Date Results Publications
2015-07-25 11:14:00 Data indicate that the neonatal detection test sensitivity obtained was 95% with a positive predictive value of 1 in the analyses for both the arylsulfatase E (ARSE) and melanoma antigen family H1 (MAGEH1) genes. 25366798
2014-04-05 10:47:00 Results show that Around 40 perdcent of male patients with brachytelephalangic chondrodysplasia punctata do not have detectable ARSE mutations or known maternal etiological factors. 23470839
2010-01-21 00:00:00 Clinical and molecular analysis of ARSE in CDPX1 patients supports heterogeneity for CDPX1-like phenotypes and sorting these out will help to define the biological pathway and genetic contributors. [ARSE] 18348268

名称对应

Type IDs
Synonymous ASE, CDPX, CDPX1, CDPXR
Gene
UniProtKB-ID: ARSL_HUMAN, B7Z1M0_HUMAN, A1L484_HUMAN, A0A5F9ZHX8_HUMAN, F5H324_HUMAN, B7Z6V4_HUMAN, F5GYY5_HUMAN
UniprotKB: P51690, B7Z1M0, A1L484, A0A5F9ZHX8, F5H324, B7Z6V4, F5GYY5
UniParc: UPI0000ED0496, UPI00020654FE, UPI0001914AB8, UPI000387C4AB, UPI00019150DA, UPI00020654FD, UPI000049E10C
EMBL: AC005295, AK223199, AK293648, X83573, BC130438, AK223183, AK301004
Ensembl: ENSG00000157399
KO: hsa:415
Nucleutide sequences
EMBL-CDS: BAD96919.1, BAD96903.1, CAA58556.1, BAH11556.1, AAI30439.1, BAH13390.1
Ensembl_TRS: ENST00000381134, ENST00000673032, ENST00000672761, ENST00000540563, ENST00000672027, ENST00000545496
Protein sequencees
Ensembl_PRO: ENSP00000370526, ENSP00000500778, ENSP00000500108, ENSP00000438198, ENSP00000500220, ENSP00000441417
RefSeq: NP_000038.2, XP_005274576.1, NP_001269560.2, XP_016885015.1, XP_011543823.1, XP_005274578.1, NP_001269557.1, NP_001356009.1, NP_001356008.1
Others
UniRef100: UniRef100_A1L484, UniRef100_F5GYY5, UniRef100_B7Z6V4, UniRef100_B7Z1M0, UniRef100_F5H324, UniRef100_P51690
UniRef90: UniRef90_P51690, UniRef90_Q60HH5
UniRef50: UniRef50_P51690
UniGene: Hs.386975
CCDS: CCDS14122.1

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