Identity
HGNC
LOCATION
12q12
LOCUSID
ALIAS
CR,HSPC206,HSPC232
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: 51535
MIM: 608150
HGNC: 19369
Ensembl: ENSG00000134283
Variants:
dbSNP: 51535
ClinVar: 51535
TCGA: ENSG00000134283
COSMIC: PPHLN1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32976585 | 2020 | Periphilin self-association underpins epigenetic silencing by the HUSH complex. | 11 |
| 32976585 | 2020 | Periphilin self-association underpins epigenetic silencing by the HUSH complex. | 11 |
| 26853531 | 2016 | Position-effect variegation revisited: HUSHing up heterochromatin in human cells. | 20 |
| 26853531 | 2016 | Position-effect variegation revisited: HUSHing up heterochromatin in human cells. | 20 |
| 25608663 | 2015 | Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion and ARAF mutations in intrahepatic cholangiocarcinoma. | 122 |
| 26022416 | 2015 | GENE SILENCING. Epigenetic silencing by the HUSH complex mediates position-effect variegation in human cells. | 163 |
| 25608663 | 2015 | Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion and ARAF mutations in intrahepatic cholangiocarcinoma. | 122 |
| 26022416 | 2015 | GENE SILENCING. Epigenetic silencing by the HUSH complex mediates position-effect variegation in human cells. | 163 |
| 19730898 | 2010 | Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease. | 1 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 19730898 | 2010 | Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease. | 1 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 15474462 | 2004 | Overexpression of CR/periphilin downregulates Cdc7 expression and induces S-phase arrest. | 4 |
| 15474462 | 2004 | Overexpression of CR/periphilin downregulates Cdc7 expression and induces S-phase arrest. | 4 |
| 12853457 | 2003 | Characterization of periphilin, a widespread, highly insoluble nuclear protein and potential constituent of the keratinocyte cornified envelope. | 13 |
Citation
Dessen P
PPHLN1 (periphilin 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-04-01
Online version: http://atlasgeneticsoncology.org/gene/55697/pphln1-(periphilin-1)
