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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. CEP290, centrosomal protein 290kDa
Sequence ID:NM_025114
RefSeqGene ID:NG_008417
Entrez Gene ID:80184
Ensembl ID:ENSG00000198707

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
BARDET-BIEDL SYNDROME 1ARL6
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
CCDC28B
MKKS
MKS1
TMEM67
TRIM32
TTC8
WDPCP
JOUBERT SYNDROME 5 
LEBER CONGENITAL AMAUROSIS 10 
MECKEL SYNDROME 4 
SENIOR-LOKEN SYNDROME 6 

Cytogenetic Location (from UniGene)

Cytogenetic Location:12q21.32Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:12: 88442793 - 88497965

 Exon Info From UCSC:
NM_025114

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
100069260Full LengthBC172566centrosomal protein 290kDa
100063051BC156462centrosomal protein 290kDa

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_025114 NP_079390 O15078  

Related Sequences

 
mRNAGenPeptSwissProt
AF273044 AAG34904 O15078
BC008641 AAH08641 Q96HG2
BC043398 AAH43398 Q05BJ6
BC156462 AAI56463  
BC172566 AAI72566  
AF317887 AAK01919  
AY590151 AAT01278 Q6PNN2
DQ109808 AAZ83370 O15078
AB002371 BAA20828 O15078
AK025632 BAB15196 O15078
BK005587 DAA05591 O15078

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens CEP290 NP_079390 M.musculus Cep290 216274 Gene Info NP_666121 87
R.norvegicus Cep290 314787   NP_001129227 87

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)