DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit)

2011-10-01  

Identity

HGNC
DEPDC5
LOCATION
22q12.2
LOCUSID
9681
ALIAS
DEP.5,FFEVF,FFEVF1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9681
MIM: 614191
HGNC: 18423
Ensembl: ENSG00000100150

Variants:

dbSNP: 9681
ClinVar: 9681
TCGA: ENSG00000100150
COSMIC: DEPDC5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100150ENST00000382111O75140
ENSG00000100150ENST00000382112O75140
ENSG00000100150ENST00000400242O75140
ENSG00000100150ENST00000400248O75140
ENSG00000100150ENST00000400249O75140
ENSG00000100150ENST00000433147H0Y770
ENSG00000100150ENST00000437411C9JGS4
ENSG00000100150ENST00000448753H7C1T0
ENSG00000100150ENST00000456178F8WAX3
ENSG00000100150ENST00000458532H7C3I3
ENSG00000100150ENST00000469974A0A2R8Y5V3
ENSG00000100150ENST00000473802A0A2R8YEI8
ENSG00000100150ENST00000497340A0A2R8Y7X0
ENSG00000100150ENST00000535622O75140
ENSG00000100150ENST00000642684A0A2R8YET0
ENSG00000100150ENST00000642696O75140
ENSG00000100150ENST00000642771A0A2R8Y6H8
ENSG00000100150ENST00000642974A0A2R8Y7U6
ENSG00000100150ENST00000643395A0A2R8Y842
ENSG00000100150ENST00000643751A0A2R8Y6V4
ENSG00000100150ENST00000644162A0A2R8YFS1
ENSG00000100150ENST00000644331O75140
ENSG00000100150ENST00000645015C9JGS4
ENSG00000100150ENST00000645407A0A2R8Y7U0
ENSG00000100150ENST00000645494A0A2R8Y6H8
ENSG00000100150ENST00000645547A0A2R8Y7C9
ENSG00000100150ENST00000645560A0A2R8Y6H3
ENSG00000100150ENST00000645564A0A2R8Y5E9
ENSG00000100150ENST00000645693A0A2R8YF97
ENSG00000100150ENST00000645711O75140
ENSG00000100150ENST00000645755A0A2R8Y6Y2
ENSG00000100150ENST00000645967A0A2R8Y6F4
ENSG00000100150ENST00000646465A0A2R8Y721
ENSG00000100150ENST00000646515A0A2R8Y5T1
ENSG00000100150ENST00000646755O75140
ENSG00000100150ENST00000646969A0A2R8Y6H3
ENSG00000100150ENST00000646998A0A2R8YEW8
ENSG00000100150ENST00000647343A0A2R8Y5K9
ENSG00000100150ENST00000647438A0A2R8Y5P2
ENSG00000100150ENST00000651528O75140

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
mTOR signaling pathwayKEGGko04150
mTOR signaling pathwayKEGGhsa04150

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
235426972013Mutations in DEPDC5 cause familial focal epilepsy with variable foci.74
255996722015Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.64
256235242015Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.58
235427012013Mutations of DEPDC5 cause autosomal dominant focal epilepsies.56
245853832014Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.52
217253092011Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers.47
248148462014DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.28
245910172014DEPDC5 mutations in genetic focal epilepsies of childhood.27
297085082018Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.23
271730162016Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.21

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