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5080 PAX6

5080

PAX6

paired box 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition paired box 6

研究结论

Date Results Publications
2021-04-03 13:38:00 Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia. 32125788
2021-03-13 13:25:00 PAUPAR and PAX6 sequentially regulate human embryonic stem cell cortical differentiation. 33544864
2021-02-06 13:49:00 Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. 31700164
2021-02-02 13:22:00 Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism? 32016663
2020-12-26 13:12:00 TET1 Deficiency Impairs Morphogen-free Differentiation of Human to Neuroectoderm. 32587369

名称对应

Type IDs
Synonymous AN, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR
Gene
UniProtKB-ID: PAX6_HUMAN, F1T0F8_HUMAN, A0A1W2PRA8_HUMAN, Q66SS1_HUMAN, D1KF47_HUMAN
UniprotKB: P26367, F1T0F8, A0A1W2PRA8, Q66SS1, D1KF47
UniParc: UPI000002B0A0, UPI0000000CC0, UPI0001BDE0C9, UPI000013F6BE
EMBL: AY047583, BC011953, AB593092, Z95332, AB593094, AB593093, CH471064, GQ141695, AY707088, Z83307, KT580799, M77844, BX640762, M93650, KT580798
Ensembl: ENSG00000007372
KO: hsa:5080
Nucleutide sequences
EMBL-CDS: AAK95849.1, AAH11953.1, AAA59962.1, CAE45868.1, AAA36416.1, BAJ84032.1, BAJ84034.1, BAJ84033.1, EAW68235.1, AAU12168.1, ALU11231.1, ALU11232.1, ACZ28705.1
Gene_ORFName: hCG_26499
Ensembl_TRS: ENST00000639409, ENST00000640287, ENST00000241001, ENST00000379107, ENST00000639916, ENST00000419022, ENST00000638914, ENST00000643871, ENST00000606377, ENST00000640610, ENST00000379129, ENST00000379109, ENST00000379132, ENST00000640975, ENST00000640368, ENST00000481563, ENST00000640125, ENST00000639548, ENST00000638629, ENST00000639386, ENST00000639034
Protein sequencees
Ensembl_PRO: ENSP00000368401, ENSP00000492024, ENSP00000492822, ENSP00000241001, ENSP00000492315, ENSP00000491295, ENSP00000480026, ENSP00000492476, ENSP00000495109, ENSP00000404100, ENSP00000491872, ENSP00000368424, ENSP00000368427, ENSP00000490963, ENSP00000368403, ENSP00000490971, ENSP00000492658, ENSP00000492205, ENSP00000491944, ENSP00000492166, ENSP00000491679
RefSeq: NP_001355841.1, NP_001355854.1, NP_001355837.1, NP_001355836.1, NP_001355850.1, NP_001355848.1, NP_001355839.1, NP_001355838.1, NP_001355852.1, NP_001245391.1, NP_001355832.1, NP_001355859.1, NP_001355846.1, NP_001355858.1, NP_001595.2, NP_001355828.1, NP_001355853.1, NP_000271.1, NP_001355857.1, NP_001355822.1, NP_001297087.1, NP_001355816.1, NP_001355830.1, NP_001355844.1, NP_001245394.1, NP_001355855.1, NP_001355817.1, NP_001297088.1, NP_001355820.1, NP_001245393.1, NP_001355819.1, NP_001297089.1, NP_001355856.1, NP_001355834.1, NP_001355840.1, NP_001355818.1, NP_001297090.1, NP_001355849.1, NP_001355842.1, NP_001355829.1, NP_001355835.1, NP_001245392.1, NP_001355843.1, NP_001355851.1, NP_001355833.1, NP_001355821.1, NP_001355845.1, NP_001121084.1, NP_001355823.1, NP_001355831.1, NP_001355847.1
Others
UniRef100: UniRef100_P26367, UniRef100_D1KF47, UniRef100_F1T0F8, UniRef100_A0A1W2PRA8
UniRef90: UniRef90_D1KF47, UniRef90_P26367, UniRef90_P63015-2, UniRef90_A0A1W2PRA8
UniRef50: UniRef50_P63015-2, UniRef50_P26367, UniRef50_A0A2R8N262, UniRef50_P47237
UniGene: Hs.270303, Hs.611376
CCDS: CCDS31452.1, CCDS31451.1

全选

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