Identity
HGNC
LOCATION
21q22.11
LOCUSID
ALIAS
BM020,C21orf66,FSAP105,GCFC,GCFC1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 94104
MIM: 617621
HGNC: 13579
Ensembl: ENSG00000159086
Variants:
dbSNP: 94104
ClinVar: 94104
TCGA: ENSG00000159086
COSMIC: PAXBP1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28542722 | 2017 | A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia. | 9 |
| 28542722 | 2017 | A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia. | 9 |
| 20494980 | 2010 | Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters. | 12 |
| 20494980 | 2010 | Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters. | 12 |
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-(pax3-and-pax7-binding-protein-1)
