Gene Information
|
Gene Name
|
CCDC40 |
|
Gene ID
|
55036
|
|
Gene Full Name
|
coiled-coil domain 40 molecular ruler complex subunit |
|
Gene Alias
|
CFAP172|CILD15|FAP172 |
|
Transcripts
|
ENSG00000141519
|
|
Virus
|
HPV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Microtubules, Primary cilium, Cytosol;Cytokinetic bridge, Mid piece;
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Predicted intracellular proteins |
|
Uniport_ID
|
Q4G0X9
|
|
HGNC ID
|
HGNC:26090
|
|
OMIM ID
|
613799 |
|
Summary
|
This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011] |
Target gene [CCDC40] 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 |
| 5010151 |
chr17 |
0 |
1 |
0 |
1 |
View |
Target gene [CCDC40] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE183048
|
Chip-seq |
24 |
Illumina HiSeq 4000 (Homo sapiens) |
|
GSE169622
|
Methylation profiling (Array) |
9 |
Infinium MethylationEPIC |
|
GSE181805
|
Expression array |
25 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
GSE196215
|
RNA-seq |
8 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE140662
|
Expression array |
8 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
GSE55542
|
Expression array |
36 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version) |
|
C GSE143026
|
ATAC-seq;Chip-seq;RNA-seq |
30 |
Illumina HiSeq 2500 (Homo sapiens) |
|
TCGA_CESC
|
DNA methylation sequencing;RNA-seq |
288 |
TCGA |
|
GSE55550
|
Expression array |
155 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version) |
|
GSE165883
|
RNA-seq |
20 |
Illumina NextSeq 500 (Homo sapiens) |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE183048 - CCDC40 peak across samples
|
Peak Plot
|
> Dataset: GSE143026 - CCDC40 peak across samples
|
Peak Plot
|
|
|