Identity
HGNC
LOCATION
10p12.1
LOCUSID
ALIAS
BM-016,DESSH,PRO1741,Wwp4
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: 51322
MIM: 615049
HGNC: 17327
Ensembl: ENSG00000095787
Variants:
dbSNP: 51322
ClinVar: 51322
TCGA: ENSG00000095787
COSMIC: WAC
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35018708 | 2022 | Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant. | 2 |
| 35018708 | 2022 | Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant. | 2 |
| 33387902 | 2021 | Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants. | 3 |
| 33857290 | 2021 | Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. | 12 |
| 34581882 | 2021 | WAC, a novel GBM tumor suppressor, induces GBM cell apoptosis and promotes autophagy. | 0 |
| 33387902 | 2021 | Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants. | 3 |
| 33857290 | 2021 | Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. | 12 |
| 34581882 | 2021 | WAC, a novel GBM tumor suppressor, induces GBM cell apoptosis and promotes autophagy. | 0 |
| 32214004 | 2020 | A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES). | 6 |
| 32214004 | 2020 | A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES). | 6 |
| 30021153 | 2018 | WAC Promotes Polo-like Kinase 1 Activation for Timely Mitotic Entry. | 14 |
| 30021153 | 2018 | WAC Promotes Polo-like Kinase 1 Activation for Timely Mitotic Entry. | 14 |
| 26757981 | 2016 | De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. | 18 |
| 27119754 | 2016 | A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders. | 3 |
| 26757981 | 2016 | De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. | 18 |
Citation
Dessen P
WAC (WW domain containing adaptor with coiled-coil)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54771/wac-(ww-domain-containing-adaptor-with-coiled-coil)
