Human (GRCh37.p13)
Description

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

Gene Synonyms

COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15

Location
About this transcript

This transcript has 3 exons, is annotated with 7 domains and features, is associated with 976 variant alleles and maps to 57 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000378505.2RPGR-00947671152aaENSP00000367766.2
 
Protein coding
CCDS35229Q92834 NM_001034853.1GENCODE basic
ENST00000339363.3RPGR-20336861020aaENSP00000343671.3
 
Protein coding
Q92834 -GENCODE basic
ENST00000318842.7RPGR-0013108815aaENSP00000322219.6
 
Protein coding
CCDS14246Q92834 NM_000328.2GENCODE basic
ENST00000338898.3RPGR-2022979480aaENSP00000340208.3
 
Protein coding
Q92834 -GENCODE basic
ENST00000309513.3RPGR-2012885753aaENSP00000308783.3
 
Protein coding
Q92834 -GENCODE basic
ENST00000342811.3RPGR-2042109646aaENSP00000339531.3
 
Protein coding
Q92834 -GENCODE basic
ENST00000464437.1RPGR-006428129aaENSP00000417574.1
 
Protein coding
--CDS 5' incomplete
ENST00000494707.1RPGR-004426142aaENSP00000417336.1
 
Protein coding
--CDS 5' and 3' incomplete
ENST00000482855.1RPGR-0022819646aaENSP00000419276.1
 
Nonsense mediated decay
Q92834 --
ENST00000474584.1RPGR-0072268480aaENSP00000418926.1
 
Nonsense mediated decay
Q92834 --
ENST00000476559.1RPGR-0031044No protein-
 
Retained intron
---
ENST00000494841.1RPGR-008653No protein-
 
Retained intron
---
ENST00000470183.1RPGR-005382No protein-
 
Retained intron
---
Statistics

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

Incomplete CDS

CDS 5' incomplete

Version

ENST00000464437.1

Type

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-LWK, CSHL-HAPMAP:HapMap-YRI, CSHL-HAPMAP:HAPMAP-MEX, CSHL-HAPMAP:HAPMAP-GIH.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000056239 (version 2)