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1756 DMD

1756

DMD

dystrophin

protein-coding

Homo sapiens

基因描述

Type Description
Definition dystrophin

研究结论

Date Results Publications
2021-04-17 13:12:00 First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene. 33096920
2021-04-03 13:38:00 Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study. 31997646
2021-02-27 13:50:00 Intronic Alternative Polyadenylation in the Middle of the DMD Gene Produces Half-Size N-Terminal Dystrophin with a Potential Implication of ECG Abnormalities of DMD Patients. 32443516
2021-02-27 13:48:00 Effects of Mini-Dystrophin on Dystrophin-Deficient, Human Skeletal Muscle-Derived Cells. 32998454
2021-02-02 13:25:00 Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy. 31793735

名称对应

Type IDs
Synonymous BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85
Gene
UniProtKB-ID: DMD_HUMAN, A7E212_HUMAN, Q4G0X0_HUMAN, A0A0S2Z3B5_HUMAN, Q16484_HUMAN, A0A0S2Z3J7_HUMAN
UniprotKB: P11532, A7E212, Q4G0X0, A0A0S2Z3B5, Q16484, A0A0S2Z3J7
UniParc: UPI000006E050, UPI00001610F7, UPI000006D609, UPI00001610F8, UPI0001E88EB5, UPI0001E88E37, UPI0000167C51, UPI00001610FD, UPI00004A0D95, UPI0000167C53, UPI0000167C50, UPI0000071CB8, UPI00017A7A12, UPI0000167C54, UPI00117BDF36, UPI00005B2E80, UPI00005B2E7F, UPI0001CE6F1F, UPI00001610FC
EMBL: BC070078, AC093193, AC079143, AL121880, AC004468, CH471074, X13047, BC150141, AL049643, AL096699, AL451144, AL596023, KU178031, X54820, AL109609, BC036103, AL031643, AC090632, X06178, X15148, S42206, AC093167, AL139278, BC094758, BC028720, KU178030, AC079864, X13048, X13046, AC079175, AC078958, AC079177, AC078957, X06179, AL139401, AC096506, X15495, AC006061, X13045, BC127103, U27203, AL050305, M18533, X14298, M92650, AL031542
Ensembl: ENSG00000198947
KO: hsa:1756
Nucleutide sequences
EMBL-CDS: AAA86116.1, CAI42229.1, EAW99065.1, CAI42225.1, AAA53189.1, AAA86115.1, CAA29544.1, CAA31451.1, CAI43058.1, CAA33518.1, AAI27104.2, AAH28720.1, AAH70078.1, CAA38589.1, CAA31452.1, AAA52316.1, CAA31453.1, CAA29545.1, CAA31454.1, CAA33245.1, CAI42950.1, CAA32479.1, CAI42991.1, CAI39566.1, AAH94758.1, AAI50142.1, AAH36103.1, ALQ33489.1, AAD13820.1, ALQ33488.1
Ensembl_TRS: ENST00000378702, ENST00000378680, ENST00000378723, ENST00000361471, ENST00000288447
Protein sequencees
Ensembl_PRO: ENSP00000367974, ENSP00000354464, ENSP00000367951, ENSP00000367997, ENSP00000288447
RefSeq: NP_004000.1, XP_006724531.1, NP_004004.2, XP_016884820.1, XP_011543770.1, XP_006724537.1, XP_006724536.1, XP_006724538.1, NP_004007.1, NP_003997.2, NP_004011.3, XP_016884819.1, NP_004006.1, NP_004009.1, NP_004005.2, NP_000100.3, NP_004002.3, XP_011543769.1, NP_004003.2, XP_006724533.1, NP_004012.2, NP_004010.1, XP_016884817.1, NP_004001.1, XP_011543771.1, XP_006724532.1, NP_004013.2, XP_016884818.1, NP_004014.2, NP_004008.1
Others
UniRef100: UniRef100_Q16484, UniRef100_Q4G0X0, UniRef100_P11532, UniRef100_A7E212, UniRef100_K7AUC3, UniRef100_A0A0S2Z3B5
UniRef90: UniRef90_Q16484, UniRef90_Q4G0X0, UniRef90_P11532, UniRef90_P11532-15, UniRef90_Q5GN48-3
UniRef50: UniRef50_P11532-15, UniRef50_A0A3Q3STV4, UniRef50_P11532-5, UniRef50_P11532
UniGene: Hs.495912
CCDS: CCDS14231.1, CCDS14234.1, CCDS14233.1, CCDS55395.1, CCDS14232.1

全选

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