AVIL (advillin)

2014-08-01  

Identity

HGNC
AVIL
LOCATION
12q14.1
LOCUSID
10677
ALIAS
ADVIL,DOC6,NPHS21,p92
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10677
MIM: 613397
HGNC: 14188
Ensembl: ENSG00000135407

Variants:

dbSNP: 10677
ClinVar: 10677
TCGA: ENSG00000135407
COSMIC: AVIL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135407ENST00000257861O75366
ENSG00000135407ENST00000549851F8VNY0
ENSG00000135407ENST00000549994F8VVU1

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

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
377624982023The Potential for Targeting AVIL and Other Actin-Binding Proteins in Rhabdomyosarcoma.0
377624982023The Potential for Targeting AVIL and Other Actin-Binding Proteins in Rhabdomyosarcoma.0
349484332021Targeting AVIL, a New Cytoskeleton Regulator in Glioblastoma.2
349484332021Targeting AVIL, a New Cytoskeleton Regulator in Glioblastoma.2
326513642020A cytoskeleton regulator AVIL drives tumorigenesis in glioblastoma.30
326513642020A cytoskeleton regulator AVIL drives tumorigenesis in glioblastoma.30
290586902017Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.27
290586902017Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome.27
180226352008Predicting the effect of a point mutation on a protein fold: the villin and advillin headpieces and their Pro62Ala mutants.15
180226352008Predicting the effect of a point mutation on a protein fold: the villin and advillin headpieces and their Pro62Ala mutants.15
150966332004Solution structures of the C-terminal headpiece subdomains of human villin and advillin, evaluation of headpiece F-actin-binding requirements.21
150966332004Solution structures of the C-terminal headpiece subdomains of human villin and advillin, evaluation of headpiece F-actin-binding requirements.21

Citation

Dessen P

AVIL (advillin)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54148/gene-fusions-explorer/meetings/gene-fusions/?id=54148