WAC (WW domain containing adaptor with coiled-coil)

2014-08-01  

Identity

HGNC
WAC
LOCATION
10p12.1
LOCUSID
51322
ALIAS
BM-016,DESSH,PRO1741,Wwp4
FUSION GENES
Show Gene Fusions

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
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
Protein ubiquitinationREACTOMER-HSA-8852135
E3 ubiquitin ligases ubiquitinate target proteinsREACTOMER-HSA-8866654

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
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/