Gene Information
|
Gene Name
|
CEP290 |
|
Gene ID
|
80184
|
|
Gene Full Name
|
centrosomal protein 290 |
|
Gene Alias
|
3H11Ag|BBS14|CT87|JBTS5|LCA10|MKS4|NPHP6|POC3|SLSN6|rd16 |
|
Transcripts
|
ENSG00000198707
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Centrosome, Basal body, Mid piece;Primary cilium, Principal piece; 
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Predicted intracellular proteins |
|
Uniport_ID
|
O15078
|
|
HGNC ID
|
HGNC:29021
|
|
OMIM ID
|
610142 |
|
Summary
|
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008] |
Target gene [CEP290] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 6014875 |
chr12 |
12 |
3 |
0 |
15 |
View |
| 6015205 |
chr12 |
15 |
0 |
0 |
15 |
View |
| 6017591 |
chr12 |
10 |
0 |
0 |
10 |
View |
| 6021223 |
chr12 |
5 |
1 |
0 |
6 |
View |
| 6021224 |
chr12 |
5 |
1 |
0 |
6 |
View |
Target gene [CEP290] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE224047
|
RNA-seq |
10 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - CEP290 peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
