| Variant ID | 604 |
|---|---|
| Entrez Gene ID | 9681 |
| Gene | DEPDC5 (GeneCards) |
| Location | hg19 22:32179893-32179893
hg38 22:31783907-31783907 |
| Disease | Focal Cortical Dysplasias (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000022.10:g.32179893 G>A (Genome Assembly: hg19) |
| Exon or Intron | Intron |
|---|---|
| Exon number | -1 |
| Position in protein | 422 |
| Amino acid changes in protein | R > * |
| Position in cDNA | 484 |
| Changes in cDNA | G > A |
| mRNA accession | NM_001242896.1 |
| mRNA length | 5551 |
| Reference length | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7946 |
| CADD Raw score (version 1.3) | 6.196342 (Deleterious) |
| FATHMM raw prediction score | 0.97345 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.82 (Tolerated) |
| PROVEAN score | -2.36 (Tolerated) |
| MetaSVM score | -0.679 (Tolerated) |
| MetaLR score | 0.276 (Tolerated) |
| MCAP score | 0.085 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.45 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.73 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.198 |
| Deleterious probability by iFish2 | 0.8039 (Deleterious) |
| Deleterious probability by DeFine | 0.9424 (Deleterious) |
| Entrez Gene ID | 9681 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DEPDC5 (GeneCards) |
| Number of variants in DEPDC5 in this database | 1 (view all the variants) |
| Full name | DEP domain containing 5 |
| Band | 22q12.2-q12.3 |
| Other IDs | Vega: OTTHUMG00000030926 OMIM: 614191 HGNC: HGNC:18423 Ensembl: ENSG00000100150 |
| Other names | DEP.5, FFEVF, FFEVF1 |
| 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] |
| Individual ID | 25623524.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25623524 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | Paternal |
| Phenotype | 3 |
| Disease | Focal Cortical Dysplasias (view all the variants in this disease) |
| OMIM ID | 607341 |
| Pubmed ID | 25623524 |
|---|---|
| Title | Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. |
| Journal | Annals of Neurology |
| Publication date | 2015.04 |
| Disease | Focal Cortical Dysplasias |
| Population | French |
| Number of cases | Female cases: 2; |