Gene Information
|
Gene Name
|
OBSCN |
|
Gene ID
|
84033
|
|
Gene Full Name
|
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
|
Gene Alias
|
ARHGEF30|RHABDO1|UNC89 |
|
Transcripts
|
ENSG00000154358
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Plasma membrane, Cytosol; 
|
|
Membrane Info
|
Disease related genes, Enzymes, Plasma proteins, Potential drug targets, Predicted intracellular proteins |
|
Uniport_ID
|
Q5VST9
|
|
HGNC ID
|
HGNC:15719
|
|
OMIM ID
|
608616 |
|
Summary
|
The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
Target gene [OBSCN] 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 |
| 6010355 |
chr1 |
29 |
2 |
0 |
31 |
View |
Target gene [OBSCN] 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 - OBSCN peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
