Gene: RPGR ENSG00000156313

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

Show transcript tableHide transcript table

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	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, 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		-	-	-

EMBL-EBI User Survey 2024

Gene: RPGR ENSG00000156313

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EMBL-EBI User Survey 2024

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Gene: RPGR ENSG00000156313

Summary