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 11 phenotypes.

Transcripts

Show transcript tableHide transcript table

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	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,

Favourite species

All species

Recent locations

Gene: CEP290 ENSG00000198707

Summary