OTUD7A (OTU deubiquitinase 7A)

2014-01-01  

Identity

HGNC
OTUD7A
LOCATION
15q13.3
LOCUSID
161725
ALIAS
C15orf16,C16ORF15,CEZANNE2,OTUD7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 161725
MIM: 612024
HGNC: 20718
Ensembl: ENSG00000169918

Variants:

dbSNP: 161725
ClinVar: 161725
TCGA: ENSG00000169918
COSMIC: OTUD7A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169918ENST00000307050Q8TE49
ENSG00000169918ENST00000560536H0YMI7
ENSG00000169918ENST00000560598H0YN66

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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DeubiquitinationREACTOMER-HSA-5688426
Ovarian tumor domain proteasesREACTOMER-HSA-5689896

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
333819032021Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.7
338304722021CircRNA_OTUD7A upregulates FOXP1 expression to facilitate the progression of diffuse large B-cell lymphoma via acting as a sponge of miR-431-5p.5
340602522021SPOP and OTUD7A Control EWS-FLI1 Protein Stability to Govern Ewing Sarcoma Growth.23
333819032021Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.7
338304722021CircRNA_OTUD7A upregulates FOXP1 expression to facilitate the progression of diffuse large B-cell lymphoma via acting as a sponge of miR-431-5p.5
340602522021SPOP and OTUD7A Control EWS-FLI1 Protein Stability to Govern Ewing Sarcoma Growth.23
319973142020Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.10
319973142020Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.10
293950742018OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.43
293950742018OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.43
237924472014Snail1-dependent transcriptional repression of Cezanne2 in hepatocellular carcinoma.14
237924472014Snail1-dependent transcriptional repression of Cezanne2 in hepatocellular carcinoma.14
204007782010Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.36
204007782010Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium.36

Citation

Dessen P

OTUD7A (OTU deubiquitinase 7A)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53763/case-report-explorer/teaching-explorer/