Identity
HGNC
LOCATION
15q13.3
LOCUSID
ALIAS
C15orf16,C16ORF15,CEZANNE2,OTUD7
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: 161725
MIM: 612024
HGNC: 20718
Ensembl: ENSG00000169918
Variants:
dbSNP: 161725
ClinVar: 161725
TCGA: ENSG00000169918
COSMIC: OTUD7A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000169918 | ENST00000307050 | Q8TE49 |
| ENSG00000169918 | ENST00000560536 | H0YMI7 |
| ENSG00000169918 | ENST00000560598 | H0YN66 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33381903 | 2021 | Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures. | 7 |
| 33830472 | 2021 | CircRNA_OTUD7A upregulates FOXP1 expression to facilitate the progression of diffuse large B-cell lymphoma via acting as a sponge of miR-431-5p. | 5 |
| 34060252 | 2021 | SPOP and OTUD7A Control EWS-FLI1 Protein Stability to Govern Ewing Sarcoma Growth. | 23 |
| 33381903 | 2021 | Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures. | 7 |
| 33830472 | 2021 | CircRNA_OTUD7A upregulates FOXP1 expression to facilitate the progression of diffuse large B-cell lymphoma via acting as a sponge of miR-431-5p. | 5 |
| 34060252 | 2021 | SPOP and OTUD7A Control EWS-FLI1 Protein Stability to Govern Ewing Sarcoma Growth. | 23 |
| 31997314 | 2020 | Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. | 10 |
| 31997314 | 2020 | Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. | 10 |
| 29395074 | 2018 | OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. | 43 |
| 29395074 | 2018 | OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. | 43 |
| 23792447 | 2014 | Snail1-dependent transcriptional repression of Cezanne2 in hepatocellular carcinoma. | 14 |
| 23792447 | 2014 | Snail1-dependent transcriptional repression of Cezanne2 in hepatocellular carcinoma. | 14 |
| 20400778 | 2010 | Genomic 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 |
| 20400778 | 2010 | Genomic 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
