VAX1 (ventral anterior homeobox 1)

2016-10-01  

Identity

HGNC
VAX1
LOCATION
10q25.3
LOCUSID
11023
ALIAS
MCOPS11

Other Information

Locus ID:

NCBI: 11023
MIM: 604294
HGNC: 12660
Ensembl: ENSG00000148704

Variants:

dbSNP: 11023
ClinVar: 11023
TCGA: ENSG00000148704
COSMIC: VAX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148704ENST00000277905Q5SQQ9
ENSG00000148704ENST00000369206Q5SQQ9

Expression (GTEx)

0
1
2
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
N/A

References

Pubmed IDYearTitleCitations
354199182023Target sequencing reveals the association between variants in VAX1 and NSCL/P in Chinese population.1
354199182023Target sequencing reveals the association between variants in VAX1 and NSCL/P in Chinese population.1
350751622022Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.5
350751622022Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.5
331320922021The risk of nonsyndromic cleft lip with or without cleft palate and Vax1 rs7078160 polymorphisms in southern Han Chinese.2
331320922021The risk of nonsyndromic cleft lip with or without cleft palate and Vax1 rs7078160 polymorphisms in southern Han Chinese.2
306335592019Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients.1
306335592019Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients.1
300488542018VAX1 gene associated non-syndromic cleft lip with or without palate in Western Han Chinese.5
300488542018VAX1 gene associated non-syndromic cleft lip with or without palate in Western Han Chinese.5
283834242017Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China.1
283834242017Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China.1
234634642013Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).34
236790942013Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate.10
234634642013Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).34

Citation

Dessen P

VAX1 (ventral anterior homeobox 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56295/meetings/case-report-explorer/