Description
retinitis pigmentosa GTPase regulator interacting protein 1 [Source:HGNC Symbol;Acc:13436]
Gene Synonyms
CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
Location
Chromosome 14: 21,756,098-21,819,460 forward strand.
GRCh37:CM000676.1
About this gene
This gene has 15 transcripts (splice variants), 1 paralogue and is associated with 9 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000206660.6 | RPGRIP1-201 | 3944 | 1286aa | ENSP00000206660.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G8JL87 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000400017.2 | RPGRIP1-001 | 3940 | 1286aa | ENSP00000382895.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS45080 | Q96KN7 | NM_020366.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000557771.1 | RPGRIP1-011 | 3870 | 1248aa | ENSP00000451219.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V3F7 H0YIY1 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000556336.1 | RPGRIP1-010 | 2955 | 943aa | ENSP00000450445.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V236 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000555587.1 | RPGRIP1-009 | 2371 | 761aa | ENSP00000451262.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V3I7 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000307974.4 | RPGRIP1-202 | 2021 | 645aa | ENSP00000309721.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q96KN7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000382933.4 | RPGRIP1-002 | 2004 | 612aa | ENSP00000372391.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q96KN7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000557351.1 | RPGRIP1-006 | 566 | 166aa | ENSP00000452215.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V577 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000554303.1 | RPGRIP1-008 | 429 | 143aa | ENSP00000450426.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YIY1 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000557606.1 | RPGRIP1-012 | 402 | 134aa | ENSP00000451719.1 | 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, | |
| ENST00000555322.1 | RPGRIP1-004 | 2373 | 26aa | ENSP00000450662.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000555489.1 | RPGRIP1-003 | 2139 | 59aa | ENSP00000451044.1 | Nonsense mediated decay | H0YJ99 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000553500.1 | RPGRIP1-007 | 585 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000553927.1 | RPGRIP1-005 | 2875 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000554750.1 | RPGRIP1-013 | 571 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
