Description

retinitis pigmentosa GTPase regulator [Source:HGNC Symbol;Acc:HGNC:10295]

Synonyms

COD1, CORDX1, CRD, RP15, RP3

Location
About this transcript

This transcript has 3 exons, is annotated with 7 domains and features, is associated with 92 variations and maps to 3 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
RPGR-009ENST0000037850547671152aaENSP00000367766
 
Protein coding
CCDS35229Q92834 NM_001034853
NP_001030025
TSL:5GENCODE basicAPPRIS ALT2
RPGR-001ENST000003188423108815aaENSP00000322219
 
Protein coding
CCDS14246Q92834 NM_000328
NP_000319
TSL:1GENCODE basicAPPRIS P3
RPGR-201ENST0000033936336861020aaENSP00000343671
 
Protein coding
-Q92834 -TSL:5GENCODE basicAPPRIS ALT2
RPGR-006ENST00000464437428129aaENSP00000417574
 
Protein coding
-H7C4L1 -CDS 5' incompleteTSL:3
RPGR-004ENST00000494707426143aaENSP00000417336
 
Protein coding
-H7C4H4 -CDS 5' and 3' incompleteTSL:5
RPGR-002ENST000004828552819646aaENSP00000419276
 
Nonsense mediated decay
-Q92834 -TSL:2
RPGR-007ENST000004745842268480aaENSP00000418926
 
Nonsense mediated decay
-Q92834 -TSL:2
RPGR-003ENST000004765591047No protein-
 
Retained intron
---TSL:2
RPGR-008ENST00000494841653No protein-
 
Retained intron
---TSL:1
RPGR-005ENST00000470183382No protein-
 
Retained intron
---TSL:2
Statistics

Exons: 3 Coding exons: 3 Transcript length: 428 bps Translation length: 129 residues

Transcript Support Level (TSL)

TSL:3

Ensembl version

ENST00000464437.1

Type

Known protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Stop codons

This transcript has a variant, rs4827349, that causes a stop codon to be lost in at least 10% of HapMap or 1000 Genome population(s) CSHL-HAPMAP:HAPMAP-GIH, CSHL-HAPMAP:HapMap-YRI, CSHL-HAPMAP:HAPMAP-MEX, CSHL-HAPMAP:HAPMAP-LWK.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:

Transcript-based displays