Description
retinitis pigmentosa GTPase regulator [Source:HGNC Symbol;Acc:10295]
Gene Synonyms
COD1, CORDX1, CRD, PCDX, RP15, RP3, XLRP3, orf15
Location
Chromosome X: 38,128,416-38,186,817 reverse strand.
GRCh37:CM000685.1
About this gene
This gene has 13 transcripts (splice variants), 7 paralogues and is associated with 11 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000378505.2 | RPGR-009 | 4767 | 1152aa | ENSP00000367766.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS35229 | Q92834 | NM_001034853.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000339363.3 | RPGR-203 | 3686 | 1020aa | ENSP00000343671.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q92834 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000318842.7 | RPGR-001 | 3108 | 815aa | ENSP00000322219.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS14246 | Q92834 | NM_000328.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000338898.3 | RPGR-202 | 2979 | 480aa | ENSP00000340208.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q92834 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000309513.3 | RPGR-201 | 2885 | 753aa | ENSP00000308783.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q92834 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000342811.3 | RPGR-204 | 2109 | 646aa | ENSP00000339531.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q92834 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000464437.1 | RPGR-006 | 428 | 129aa | ENSP00000417574.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000494707.1 | RPGR-004 | 426 | 142aa | ENSP00000417336.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000482855.1 | RPGR-002 | 2819 | 646aa | ENSP00000419276.1 | Nonsense mediated decay | Q92834 | - | - | |
| ENST00000474584.1 | RPGR-007 | 2268 | 480aa | ENSP00000418926.1 | Nonsense mediated decay | Q92834 | - | - | |
| ENST00000476559.1 | RPGR-003 | 1044 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000494841.1 | RPGR-008 | 653 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000470183.1 | RPGR-005 | 382 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |