CEP290

NameSynonymsFull NameRefSeq IDDescription (.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 pdf

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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)

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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
humanH. sapiensGenome49 62 64 50 79 80 66 70 78
Read_Max
batR. aegyptiacusTranscriptome 80 49 43 71 55 53 62 70 50
Read_Max
bat_genomeR. aegyptiacusGenome 100 95 41 69 65 38 66 136 71
DESeq
humanH. sapiensGenome 1786.01 1716.43 2362.93 1988.07 2184.59 2439.4 1851.02 1635.67 2903.13
DESeq
batR. aegyptiacusTranscriptome 896.59 688.12 775.45 1017.39 908.83 903.08 907.61 1046.15 777.74
DESeq
bat_genomeR. aegyptiacusGenome 2707.94 3292.05 2123.33 2164.56 2925.39 2542.94 2791.09 3417.6 2268.91

Human Condition Comparisons

human Mock EBOV MARV FCMock_EBOV FCMock_MARV FCEBOV_MARV
3h 1786.01 1988.07 1851.02 0.15 0.05 -0.1
7h 1716.43 2184.59 1635.67 0.35 -0.07 -0.42
23h 2362.93 2439.4 2903.13 0.05 0.3 0.25

Human Time Point Comparisons

human 3h 7h 23h FC3h_7h FC3h_23h FC7h_23h
Mock 1786.01 1716.43 2362.93 -0.06 0.4 0.46
Ebov 1988.07 2184.59 2439.4 0.14 0.3 0.16
Marv 1851.02 1635.67 2903.13 -0.18 0.65 0.83

Bat Condition Comparisons

bat Mock EBOV MARV FCMock_EBOV FCMock_MARV FCEBOV_MARV
3h 896.59 1017.39 907.61 0.18 0.02 -0.16
7h 688.12 908.83 1046.15 0.4 0.6 0.2
23h 775.45 903.08 777.74 0.22 0.0 -0.22

Bat Time Point Comparisons

bat 3h 7h 23h FC3h_7h FC3h_23h FC7h_23h
Mock 896.59 688.12 775.45 -0.38 -0.21 0.17
Ebov 1017.39 908.83 903.08 -0.16 -0.17 -0.01
Marv 907.61 1046.15 777.74 0.2 -0.22 -0.43