PAXBP1 (PAX3 and PAX7 binding protein 1)

2016-10-01  

Identity

HGNC
LOCATION
21q22.11
LOCUSID
ALIAS
BM020,C21orf66,FSAP105,GCFC,GCFC1
FUSION GENES

Other Information

Locus ID:

NCBI: 94104
MIM: 617621
HGNC: 13579
Ensembl: ENSG00000159086

Variants:

dbSNP: 94104
ClinVar: 94104
TCGA: ENSG00000159086
COSMIC: PAXBP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159086ENST00000290178Q9Y5B6
ENSG00000159086ENST00000331923Q9Y5B6
ENSG00000159086ENST00000421049H7BZC8
ENSG00000159086ENST00000443785Q9Y5B6
ENSG00000159086ENST00000445049H7C2W4

Expression (GTEx)

0
10
20
30
40
50
60
70

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
204949802010Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.10
285427222017A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.1

Citation

Dessen P

PAXBP1 (PAX3 and PAX7 binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56503/paxbp1