Gene Information
|
Gene Name
|
GPHN |
|
Gene ID
|
10243
|
|
Gene Full Name
|
gephyrin |
|
Gene Alias
|
GEPH|GPH|GPHRYN|HKPX1|MOCODC |
|
Transcripts
|
ENSG00000171723
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Vesicles;Cytosol; 
|
|
Membrane Info
|
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins |
|
Uniport_ID
|
Q9NQX3
|
|
HGNC ID
|
HGNC:15465
|
|
OMIM ID
|
603930 |
|
Summary
|
This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008] |
Target gene [GPHN] 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 |
| 6012293 |
chr14 |
23 |
0 |
0 |
23 |
View |
| 6012574 |
chr14 |
15 |
7 |
0 |
22 |
View |
| 6015293 |
chr14 |
13 |
0 |
1 |
14 |
View |
| 6022968 |
chr14 |
4 |
0 |
0 |
4 |
View |
| 6023273 |
chr14 |
2 |
2 |
0 |
4 |
View |
| 6027385 |
chr14 |
1 |
1 |
0 |
2 |
View |
Target gene [GPHN] 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 - GPHN peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
