DEPDC5 Chromosome 22
DEP domain containing 5, GATOR1 subcomplex subunit
Upload your DNA to see your personal genotypes for variants in DEPDC5.
What This Gene Does
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]
Gene Info
Gene Group
"GATOR1 subcomplex|DEP domain containing"
Locus Type
gene with protein product
Location
22q12.2-q12.3
Ensembl
ENSG00000100150
Associated Conditions (24)
Familial focal epilepsy with variable foci
Inborn genetic diseases
Epilepsy
familial focal
with variable foci 1
DEPDC5-related disorder
Sarcoma
Acute myeloid leukemia
Focal epilepsy
Seizure
Self-limited epilepsy with centrotemporal spikes
Gastric cancer
Developmental and epileptic encephalopathy 111
Autosomal dominant nocturnal frontal lobe epilepsy
Epileptic encephalopathy
Intellectual disability
Malignant tumor of urinary bladder
Lung cancer
Autosomal dominant epilepsy
Familial cancer of breast
+4 more conditions
Key Variants
RS1160535755
Conflicting classifications of pathogenicity
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
Health Risk
RS1223250924
Conflicting classifications of pathogenicity
Inborn genetic diseases, Familial focal epilepsy with variable foci, Inborn genetic diseases
Health Risk
RS1247651367
Conflicting classifications of pathogenicity
Familial focal epilepsy with variable foci, Inborn genetic diseases, Familial focal epilepsy with variable foci
Health Risk
RS1261611694
Conflicting classifications of pathogenicity
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
Health Risk
RS1423306991
Conflicting classifications of pathogenicity
Inborn genetic diseases, Familial focal epilepsy with variable foci, Inborn genetic diseases
Health Risk
RS144712084
Conflicting classifications of pathogenicity
Familial focal epilepsy with variable foci, Inborn genetic diseases, Epilepsy
Health Risk
RS1477922253
Conflicting classifications of pathogenicity
Familial focal epilepsy with variable foci, Inborn genetic diseases, Familial focal epilepsy with variable foci
Health Risk
RS185576553
Conflicting classifications of pathogenicity
Familial focal epilepsy with variable foci, Inborn genetic diseases, Epilepsy
Health Risk
RS199688798
Conflicting classifications of pathogenicity
Familial focal epilepsy with variable foci, Inborn genetic diseases, Familial focal epilepsy with variable foci
Health Risk
RS200020310
Conflicting classifications of pathogenicity
Familial focal epilepsy with variable foci, Inborn genetic diseases, Familial focal epilepsy with variable foci
Health Risk
RS200209747
Conflicting classifications of pathogenicity
Familial focal epilepsy with variable foci, Inborn genetic diseases, Familial focal epilepsy with variable foci
Health Risk
RS200744555
Conflicting classifications of pathogenicity
Epilepsy, familial focal, with variable foci 1
Health Risk
All Variants (361)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2148801285 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2148801432 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2148952714 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2148953712 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2149008450 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2149118240 | Health Risk | Likely pathogenic | Seizure, Seizure |
| RS2149231722 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2149419886 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2517655700 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2517655719 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2517738284 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Inborn genetic diseases, Familial focal epilepsy with variable foci |
| RS2517738978 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2517796451 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2517945218 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2518229660 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2518362817 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2518365694 | Health Risk | Likely pathogenic | Lung cancer, Lung cancer |
| RS2518623610 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2518736477 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2518737050 | Health Risk | Likely pathogenic | — |
| RS2518975185 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2519067593 | Health Risk | Likely pathogenic | — |
| RS2519098517 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2519376608 | Health Risk | Likely pathogenic | — |
| RS2519378333 | Health Risk | Likely pathogenic | — |
| RS2519378722 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2519378830 | Health Risk | Likely pathogenic | — |
| RS2519949224 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2520118634 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2521249838 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2521251181 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2522341060 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2522341176 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2522414074 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2522420920 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2522513585 | Health Risk | Likely pathogenic | Autosomal dominant epilepsy, Focal epilepsy, Inborn genetic diseases |
| RS2523209622 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS2523314003 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2523594850 | Health Risk | Likely pathogenic | — |
| RS2523601405 | Health Risk | Likely pathogenic | — |
| RS781125997 | Health Risk | Likely pathogenic | SUDDEN INFANT DEATH SYNDROME, Familial focal epilepsy with variable foci, SUDDEN INFANT DEATH SYNDROME |
| RS886039243 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS886039247 | Health Risk | Likely pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS945102665 | Health Risk | Likely pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS1016477183 | Health Risk | Pathogenic | Familial focal epilepsy with variable foci, Epilepsy, familial focal |
| RS1057519107 | Health Risk | Pathogenic | Epilepsy, familial focal, with variable foci 1 |
| RS1057524233 | Health Risk | Pathogenic | Familial focal epilepsy with variable foci, Epilepsy, familial focal |
| RS1060501487 | Health Risk | Pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS1085307452 | Health Risk | Pathogenic | — |
| RS115299174 | Health Risk | Pathogenic | Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |