Identity
HGNC
LOCATION
22q12.2
LOCUSID
ALIAS
DEP.5,FFEVF,FFEVF1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9681
MIM: 614191
HGNC: 18423
Ensembl: ENSG00000100150
Variants:
dbSNP: 9681
ClinVar: 9681
TCGA: ENSG00000100150
COSMIC: DEPDC5
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| mTOR signaling pathway | KEGG | ko04150 |
| mTOR signaling pathway | KEGG | hsa04150 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37984419 | 2024 | Seizure Control Outcomes following Resection of Cortical Dysplasia in Patients with DEPDC5 Variants: A Systematic Review and Individual Patient Data Analysis. | 0 |
| 38220481 | 2024 | miR-129-2-3p inhibits colon cancer cell proliferation by down-regulating the expression of BZW1. | 0 |
| 37984419 | 2024 | Seizure Control Outcomes following Resection of Cortical Dysplasia in Patients with DEPDC5 Variants: A Systematic Review and Individual Patient Data Analysis. | 0 |
| 38220481 | 2024 | miR-129-2-3p inhibits colon cancer cell proliferation by down-regulating the expression of BZW1. | 0 |
| 36067010 | 2023 | Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria. | 2 |
| 36604176 | 2023 | Clinical and genetic features of GATOR1 complex-associated epilepsy. | 0 |
| 37003255 | 2023 | Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy. | 0 |
| 37259768 | 2023 | Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery. | 2 |
| 36067010 | 2023 | Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria. | 2 |
| 36604176 | 2023 | Clinical and genetic features of GATOR1 complex-associated epilepsy. | 0 |
| 37003255 | 2023 | Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy. | 0 |
| 37259768 | 2023 | Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery. | 2 |
| 35429726 | 2022 | DEPDC5-related epilepsy: A comprehensive review. | 12 |
| 35758967 | 2022 | Disheveled EGL-10 and pleckstrin domain-containing 5 rs1012068 T/G gene polymorphism among Egyptian chronic HCV-infected patients: disease progression and related complications. | 1 |
| 35429726 | 2022 | DEPDC5-related epilepsy: A comprehensive review. | 12 |
Citation
Dessen P
DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit)
Atlas Genet Cytogenet Oncol Haematol. 2011-10-01
Online version: http://atlasgeneticsoncology.org/gene/52433/depdc5-(dep-domain-containing-5-gator1-subcomplex-subunit)
