Gene Information
|
Gene Name
|
CASK |
|
Gene ID
|
8573
|
|
Gene Full Name
|
calcium/calmodulin dependent serine protein kinase |
|
Gene Alias
|
CAGH39|CAMGUK|CMG|FGS4|LIN2|MICPCH|MRXSNA|TNRC8|hCASK |
|
Transcripts
|
ENSG00000147044
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Nucleoplasm;Cytosol; 
|
|
Membrane Info
|
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins |
|
Uniport_ID
|
O14936
|
|
HGNC ID
|
HGNC:1497
|
|
OMIM ID
|
300172 |
|
Summary
|
This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017] |
Target gene [CASK] 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 |
| 6008921 |
chrX |
13 |
3 |
25 |
41 |
View |
| 6016208 |
chrX |
2 |
10 |
0 |
12 |
View |
| 6016585 |
chrX |
9 |
3 |
0 |
12 |
View |
| 6018967 |
chrX |
3 |
5 |
0 |
8 |
View |
| 6019110 |
chrX |
6 |
2 |
0 |
8 |
View |
| 6020571 |
chrX |
4 |
2 |
0 |
6 |
View |
| 6029869 |
chrX |
1 |
0 |
0 |
1 |
View |
Target gene [CASK] 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 - CASK peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
