Description

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

Synonyms

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

Location

Chromosome 12: 88,049,014-88,142,216 reverse strand.

GRCh38:CM000674.2

About this gene

This gene has 8 transcripts (splice variants), 88 orthologues, is a member of 1 Ensembl protein family and is associated with 15 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
CEP290-207ENST00000552810.579482479aaENSP00000448012
 
Protein coding
CCDS55858O15078 NM_025114
NP_079390
TSL:1GENCODE basicAPPRIS P2
CEP290-201ENST00000309041.1176162481aaENSP00000308021
 
Protein coding
-J3KNF5 -TSL:5GENCODE basicAPPRIS ALT1
CEP290-203ENST00000547691.659681539aaENSP00000446905
 
Protein coding
-O15078 -TSL:1GENCODE basic
CEP290-208ENST00000604024.52741857aaENSP00000473863
 
Protein coding
-S4R322 -CDS 5' incompleteTSL:1
CEP290-202ENST00000397838.72421806aaENSP00000380938
 
Protein coding
-A0A0A0MS86 -TSL:5GENCODE basic
CEP290-206ENST00000552770.21285107aaENSP00000447527
 
Protein coding
-F8W0V9 -CDS 5' incompleteTSL:3
CEP290-205ENST00000550962.5697164aaENSP00000447623
 
Protein coding
-F8W097 -CDS 3' incompleteTSL:3
CEP290-204ENST00000547926.62122613aaENSP00000448573
 
Nonsense mediated decay
-F8VS29 -CDS 5' incompleteTSL:1

Gene-based displays