| Type | Description |
|---|---|
| Definition | retinitis pigmentosa GTPase regulator |
| Date | Results | Publications |
|---|---|---|
| 2021-04-13 10:13:00 | X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR. | 33467000 |
| 2021-03-27 14:44:00 | Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR. | 32702353 |
| 2021-03-13 13:24:00 | A novel missense mutation of RPGR identified from retinitis pigmentosa affects splicing of the ORF15 region and causes loss of transcript heterogeneity. | 32788070 |
| 2020-11-21 13:16:00 | RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features. | 32012938 |
| 2020-09-19 16:26:00 | A novel missense variant c.G644A (p.G215E) of the RPGR gene in a Chinese family causes X-linked retinitis pigmentosa. | 31652454 |
| Type | IDs |
|---|---|
| Synonymous | COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15 |
| Gene |
UniProtKB-ID:
RPGR_HUMAN
UniprotKB:
Q92834
UniParc:
UPI00005D3C95,
UPI000002B2B6,
UPI000002B2B4,
UPI0000134632,
UPI000002B2B5,
UPI00000714ED
EMBL:
AF286471,
AJ238395,
BK005711,
X97668,
BC031624,
CH471141,
U57629,
AJ318463,
AL606748
Ensembl:
ENSG00000156313
KO:
hsa:6103
|
| Nucleutide sequences |
EMBL-CDS:
CAC86116.1,
CAA66258.1,
EAW59441.1,
DAA05713.1,
AAC50481.1,
AAG00550.1,
CAB54002.1,
AAH31624.1
Ensembl_TRS:
ENST00000474584,
ENST00000645032,
ENST00000339363,
ENST00000644337,
ENST00000482855,
ENST00000642395
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000493468,
ENSP00000419276,
ENSP00000343671,
ENSP00000418926,
ENSP00000495537,
ENSP00000494557
RefSeq:
NP_001354180.1,
NP_000319.1,
NP_001354177.1,
NP_001354178.1,
NP_001354176.1,
NP_001354174.1,
NP_001354175.1,
NP_001030025.1,
NP_001354179.1
|
| Others |
UniRef100:
UniRef100_Q92834
UniRef90:
UniRef90_Q92834
UniRef50:
UniRef50_Q92834
UniGene:
Hs.61438
CCDS:
CCDS14246.1,
CCDS35229.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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