Gene Page: CEP290

Summary ?
GeneID80184
SymbolCEP290
Synonyms3H11Ag|BBS14|CT87|JBTS5|LCA10|MKS4|NPHP6|POC3|SLSN6|rd16
Descriptioncentrosomal protein 290kDa
ReferenceMIM:610142|HGNC:HGNC:29021|Ensembl:ENSG00000198707|HPRD:08585|HPRD:10856|Vega:OTTHUMG00000169871
Gene typeprotein-coding
Map location12q21.32
Pascal p-value0.049
Sherlock p-value0.128
Fetal beta1.059
eGeneCerebellum
Myers' cis & trans
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 2 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
CEP290chr1288508231GCNM_025114p.673S>CmissenseSchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
snp_a-19046130CEP290801840.17trans
rs4562302chr860173690CEP290801840.11trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIPI16682973 
GO:0051011microtubule minus-end bindingIDA16682973 
GO:0016563transcription activator activityIDA16682973 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0030902hindbrain developmentISSBrain (GO term level: 8)16682973 
GO:0030030cell projection organizationIEAaxon (GO term level: 7)-
GO:0042462eye photoreceptor cell developmentISS16682973 
GO:0030916otic vesicle formationISS16682973 
GO:0015031protein transportISS-
GO:0048793pronephros developmentISS16682973 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0000930gamma-tubulin complexIDA16682973 
GO:0005813centrosomeIDA14654843 
GO:0005829cytosolIDA16682973 
GO:0005634nucleusIDA16682973 
GO:0005737cytoplasmIDA14654843 
GO:0009986cell surfaceIDA12493773 
GO:0005929ciliumIEA-
GO:0032391photoreceptor connecting ciliumISS16682973 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME CELL CYCLE 421253All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE MITOTIC 325185All SZGR 2.0 genes in this pathway
REACTOME RECRUITMENT OF MITOTIC CENTROSOME PROTEINS AND COMPLEXES 6643All SZGR 2.0 genes in this pathway
REACTOME LOSS OF NLP FROM MITOTIC CENTROSOMES 5938All SZGR 2.0 genes in this pathway
REACTOME MITOTIC G2 G2 M PHASES 8150All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA WITH LMP1 UP 408247All SZGR 2.0 genes in this pathway
HORIUCHI WTAP TARGETS UP 306188All SZGR 2.0 genes in this pathway
LEE NEURAL CREST STEM CELL DN 11879All SZGR 2.0 genes in this pathway
HAMAI APOPTOSIS VIA TRAIL UP 584356All SZGR 2.0 genes in this pathway
PUJANA BRCA2 PCC NETWORK 423265All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS UP 769437All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298200All SZGR 2.0 genes in this pathway
AGUIRRE PANCREATIC CANCER COPY NUMBER DN 238145All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 AND SATB1 UP 8752All SZGR 2.0 genes in this pathway
ZWANG CLASS 1 TRANSIENTLY INDUCED BY EGF 516308All SZGR 2.0 genes in this pathway