CEP290

 

Full name: centrosomal protein 290 Alias Symbol: KIAA0373|FLJ13615|3H11Ag|rd16|NPHP6|JBTS5|SLSN6|LCA10|MKS4|BBS14|CT87|POC3
Type: protein-coding gene Cytoband: 12q21.32
Entrez ID: 80184 HGNC ID: HGNC:29021 Ensembl Gene: ENSG00000198707 OMIM ID: 610142
Drug and gene relationship at DGIdb
Screen Evidence:

 

Expression of CEP290:

 

Dataset Gene EntrezID Probe Log2FC Adj.pValue Expression
GSE17351 CEP290 80184 205250_s_at 0.3697 0.3436
GSE20347 CEP290 80184 205250_s_at 0.7082 0.0000
GSE23400 CEP290 80184 205250_s_at 0.2176 0.0000
GSE26886 CEP290 80184 205250_s_at 2.4986 0.0000
GSE29001 CEP290 80184 205250_s_at 0.8083 0.0303
GSE38129 CEP290 80184 205250_s_at 0.5082 0.0003
GSE45670 CEP290 80184 205250_s_at 0.0639 0.7849
GSE53622 CEP290 80184 84589 0.8018 0.0000
GSE53624 CEP290 80184 84589 0.8459 0.0000
GSE63941 CEP290 80184 205250_s_at -0.2057 0.7517
GSE77861 CEP290 80184 205250_s_at 0.5624 0.0409
GSE97050 CEP290 80184 A_23_P36865 -0.2125 0.3980
SRP007169 CEP290 80184 RNAseq 2.5998 0.0000
SRP008496 CEP290 80184 RNAseq 2.9865 0.0000
SRP064894 CEP290 80184 RNAseq 0.8137 0.0004
SRP133303 CEP290 80184 RNAseq 0.9086 0.0000
SRP159526 CEP290 80184 RNAseq 1.1473 0.0035
SRP193095 CEP290 80184 RNAseq 1.0726 0.0000
SRP219564 CEP290 80184 RNAseq 0.6850 0.0130
TCGA CEP290 80184 RNAseq -0.0768 0.4703

Upregulated datasets: 5; Downregulated datasets: 0.  


 

Survival by CEP290 expression:

 

GSE53622GSE53624TCGA

 

Note: Click image to view full size file.  


Copy number change of CEP290:

 

Dataset Gene EntrezID Gain Loss Normal Detail
GSE15526 CEP290 80184 3 3 24
GSE20123 CEP290 80184 3 3 24
GSE43470 CEP290 80184 3 1 39
GSE46452 CEP290 80184 9 1 49
GSE47630 CEP290 80184 10 1 29
GSE54993 CEP290 80184 0 6 64
GSE54994 CEP290 80184 7 1 45
GSE60625 CEP290 80184 0 0 11
GSE74703 CEP290 80184 3 1 32
GSE74704 CEP290 80184 1 3 16
TCGA CEP290 80184 19 10 67

Total number of gains: 58; Total number of losses: 30; Total Number of normals: 400.  


 

Somatic mutations of CEP290:

 

Generating mutation plots.

 

Highly correlated genes for CEP290:

 

Showing top 20/1822 corelated genes with mean PCC>0.5.
Gene1 Gene2 Mean PCC Num. Datasets Num. PCC<0 Num. PCC>0.5
CEP290TMTC10.838852303
CEP290RPS19BP10.833311303
CEP290SGTB0.826551303
CEP290ESCO10.801163303
CEP290C20orf1940.788385303
CEP290RUNDC10.785194303
CEP290ALKBH60.783351303
CEP290INPP5B0.781802303
CEP290ZNF6270.78066303
CEP290S1PR30.773025303
CEP290KRTCAP20.772132303
CEP290RSBN1L0.761364303
CEP290LSM100.760051404
CEP290ZBED10.75293303
CEP290COA50.751895303
CEP290TIGD10.744373403
CEP290C6orf1410.742984303
CEP290FADS10.734623303
CEP290UBP10.728393303
CEP290HMCN10.721856303

For details and further investigation, click here