Gene: RPE65 ENSG00000116745

Description

retinoid isomerohydrolase RPE65 [Source:HGNC Symbol;Acc:HGNC:10294]

Gene Synonyms

BCO3, LCA2, RD12, RP20

Location

Chromosome 1: 68,428,822-68,451,103 reverse strand.

GRCh38:CM000663.2

About this gene

This gene has 5 transcripts (splice variants), 274 orthologues, 2 paralogues and is associated with 10 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000262340.6	RPE65-201	2605	533aa	ENSP00000262340.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS643	Q16518	NM_000329.3	The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select, 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, GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1, TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1,
ENST00000713937.1	RPE65-203	4141	412aa	ENSP00000519234.1	Nonsense mediated decay		-	-	-
ENST00000713936.1	RPE65-202	3920	86aa	ENSP00000519233.1	Nonsense mediated decay		-	-	-
ENST00000713938.1	RPE65-204	2306	217aa	ENSP00000519235.1	Nonsense mediated decay		-	-	-
ENST00000713939.1	RPE65-205	2097	42aa	ENSP00000519236.1	Nonsense mediated decay		-	-	-

Gene: RPE65 ENSG00000116745

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Gene: RPE65 ENSG00000116745

Summary

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