CEP290
| Name | Synonyms | Full Name | RefSeq ID | Description (.pdf) | IGV-img (humangenome) | Sashimi-img (humangenome) | UCSC-img (humangenome) | IGV-img (batgenome) |
|---|---|---|---|---|---|---|---|---|
| CEP290 | BBS14, CT87, NPHP6, JBTS5, LCA10, SLSN6, MKS4, POC3,KIAA0373, FLJ13615, 3H11Ag, rd16, BBS14 | centrosomal protein 290kDa | NM_025114 | ![]() |
Download all snapshots for IGV, UCSC and Sashimi (zip archive)
Description
The gene CEP290 is expressed in human and mouse datasets without significant changes in expression levels. It overlaps with the gene BC033323 which does not seem to be expressed. 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)
Maximum read counts and DESeq normalized read counts for human and bat cell lines
| Source | Species | Mapping on | Mock3h | Mock7h | Mock23h | EBOV3h | EBOV7h | EBOV23h | MARV3h | MARV7h | MARV23h | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Read_Max | H. sapiens | Genome | 49 | 62 | 64 | 50 | 79 | 80 | 66 | 70 | 78 | |
Read_Max | R. aegyptiacus | Transcriptome | 80 | 49 | 43 | 71 | 55 | 53 | 62 | 70 | 50 | |
Read_Max | R. aegyptiacus | Genome | 100 | 95 | 41 | 69 | 65 | 38 | 66 | 136 | 71 | |
DESeq | H. sapiens | Genome | 1786.01 | 1716.43 | 2362.93 | 1988.07 | 2184.59 | 2439.4 | 1851.02 | 1635.67 | 2903.13 | |
DESeq | R. aegyptiacus | Transcriptome | 896.59 | 688.12 | 775.45 | 1017.39 | 908.83 | 903.08 | 907.61 | 1046.15 | 777.74 | |
DESeq | R. aegyptiacus | Genome | 2707.94 | 3292.05 | 2123.33 | 2164.56 | 2925.39 | 2542.94 | 2791.09 | 3417.6 | 2268.91 |
