Basic information
- Full name
- DEP domain containing 5, GATOR1 subcomplex subunit
- Ensembl
- ENSG00000100150.20
- Summary
- This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Protein product
- ENST00000651528.2 Primary ENSP00000498382.1 (9 phosphosites)
- ENST00000382112.8
- ENST00000646465.1
- ENST00000642974.1
- ENST00000400242.8
- ENST00000646755.1
- ENST00000647438.1
- ENST00000437411.6
- ENST00000645015.1
- ENST00000645711.1
- ENST00000645407.1
- ENST00000644331.1
- ENST00000400249.7
- ENST00000433147.2
- ENST00000642696.1
- ENST00000400248.7
- ENST00000382111.6
- ENST00000646969.1
- ENST00000645560.1
- ENST00000535622.6
Phosphosites on the primary protein product
Tumor and normal comparison
Signed p-values | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Data type | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
mRNA expression at gene level
Protein expression
Phenotype and mutation association
Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types
Associations of the protein abundance of DEPDC5 with phenotypes and mutations
Signed p-values | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Phenotype | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
Cis-association
Associations between omics data of DEPDC5
Trans-association
Associations of the protein abundance of DEPDC5 and the protein abundance of other genes
Signed p-values | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
Gene set enrichment analysis
Submit genes and the common logarithm of the p-values of their association with to WebGestalt.