WAC (WW domain containing adaptor with coiled-coil)

2014-08-01  

Identity

HGNC
LOCATION
10p12.1
LOCUSID
ALIAS
BM-016,DESSH,PRO1741,Wwp4
FUSION GENES

Other Information

Locus ID:

NCBI: 51322
MIM: 615049
HGNC: 17327
Ensembl: ENSG00000095787

Variants:

dbSNP: 51322
ClinVar: 51322
TCGA: ENSG00000095787
COSMIC: WAC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000095787ENST00000347934Q9BTA9
ENSG00000095787ENST00000354911Q9BTA9
ENSG00000095787ENST00000375646A0A0A0MRT2
ENSG00000095787ENST00000375664Q9BTA9
ENSG00000095787ENST00000414108J3QTA0
ENSG00000095787ENST00000420266C9JD58
ENSG00000095787ENST00000424454J3QT76
ENSG00000095787ENST00000428935Q9P1G8
ENSG00000095787ENST00000439676Q9BTA9
ENSG00000095787ENST00000442148C9JVK6
ENSG00000095787ENST00000448193C9JMU2
ENSG00000095787ENST00000526722E9PMZ7
ENSG00000095787ENST00000628285Q9P1G8
ENSG00000095787ENST00000651441A0A494C0B7
ENSG00000095787ENST00000651598A0A494C0C1
ENSG00000095787ENST00000651885A0A494C0S5

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Protein ubiquitinationREACTOMER-HSA-8852135
E3 ubiquitin ligases ubiquitinate target proteinsREACTOMER-HSA-8866654

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
350187082022Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.2
350187082022Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.2
333879022021Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants.3
338572902021Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.12
345818822021WAC, a novel GBM tumor suppressor, induces GBM cell apoptosis and promotes autophagy.0
333879022021Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants.3
338572902021Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.12
345818822021WAC, a novel GBM tumor suppressor, induces GBM cell apoptosis and promotes autophagy.0
322140042020A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).6
322140042020A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).6
300211532018WAC Promotes Polo-like Kinase 1 Activation for Timely Mitotic Entry.14
300211532018WAC Promotes Polo-like Kinase 1 Activation for Timely Mitotic Entry.14
267579812016De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.18
271197542016A 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
267579812016De 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/gene-fusions/case-report-explorer/deep-insight-explorer/