PAX1 (paired box 1)

2008-07-01  

Identity

HGNC
LOCATION
20p11.22
LOCUSID
ALIAS
HUP48,OFC2
FUSION GENES

Other Information

Locus ID:

NCBI: 5075
MIM: 167411
HGNC: 8615
Ensembl: ENSG00000125813

Variants:

dbSNP: 5075
ClinVar: 5075
TCGA: ENSG00000125813
COSMIC: PAX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125813ENST00000398485P15863
ENSG00000125813ENST00000444366P15863
ENSG00000125813ENST00000613128A0A087WXV5

Expression (GTEx)

0
1

References

Pubmed IDYearTitleCitations
257842202015A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.35
244075762014High methylation rate of LMX1A, NKX6-1, PAX1, PTPRR, SOX1, and ZNF582 genes in cervical adenocarcinoma.25
248442232014PAX1 methylation as a potential biomarker for cervical cancer screening.21
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.20
247993522014PAX1/SOX1 DNA methylation and cervical neoplasia detection: a Taiwanese Gynecologic Oncology Group (TGOG) study.17
204425852010Quantitative analysis of methylation status of the PAX1 gene for detection of cervical cancer.15
238519392013A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.13
239074692014DNA methylation of PAX1 as a biomarker for oral squamous cell carcinoma.9
286571372017A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.7
262344292015PAX1 methylation as an auxiliary biomarker for cervical cancer screening: a meta-analysis.6

Citation

Dessen P

PAX1 (paired box 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50224/pax1