Gene: CEP290 ENSG00000198707

Description

centrosomal protein 290kDa [Source:HGNC Symbol;Acc:29021]

Gene Synonyms

3H11Ag, BBS14, CT87, FLJ13615, JBTS5, KIAA0373, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16

Location

Chromosome 12: 88,442,793-88,535,993 reverse strand.

GRCh37:CM000674.1

About this gene

This gene has 8 transcripts (splice variants) and is associated with 12 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000552810.1	CEP290-001	7948	2479aa	ENSP00000448012.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55858	O15078	NM_025114.3	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,
ENST00000309041.7	CEP290-201	7544	2481aa	ENSP00000308021.7	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3KNF5	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000397838.3	CEP290-202	6699	1539aa	ENSP00000380938.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		O15078	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000547691.2	CEP290-005	5968	1539aa	ENSP00000446905.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		O15078	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000604024.1	CEP290-003	2741	857aa	ENSP00000473863.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q96HG2 S4R322	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000552770.2	CEP290-007	1285	107aa	ENSP00000447527.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8W0V9	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000550962.1	CEP290-006	697	164aa	ENSP00000447623.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8W097	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000547926.2	CEP290-004	2122	613aa	ENSP00000448573.2	Nonsense mediated decay		F8VS29	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,

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Gene: CEP290 ENSG00000198707

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Gene: CEP290 ENSG00000198707

Summary