Gene Information
|
Gene Name
|
USH2A |
|
Gene ID
|
7399
|
|
Gene Full Name
|
usherin |
|
Gene Alias
|
RP39|US2|USH2|dJ1111A8.1 |
|
Transcripts
|
ENSG00000042781
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Acrosome, Equatorial segment, Mid piece, Principal piece;End piece;Intracellular and membrane; 
|
|
Membrane Info
|
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins |
|
Uniport_ID
|
O75445
|
|
HGNC ID
|
HGNC:12601
|
|
OMIM ID
|
608400 |
|
Summary
|
This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] |
Target gene [USH2A] 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 |
| 6002811 |
chr1 |
189 |
19 |
0 |
208 |
View |
| 6008530 |
chr1 |
0 |
0 |
44 |
44 |
View |
| 6011252 |
chr1 |
3 |
18 |
6 |
27 |
View |
| 6021997 |
chr1 |
4 |
1 |
0 |
5 |
View |
| 6029039 |
chr1 |
1 |
0 |
0 |
1 |
View |
Target gene [USH2A] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
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 |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
M GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the query gene is differentially changed in the dataset, a volcano/bar plot will be displayed.
> Dataset: GSE94732 - USH2A peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
