Identity
HGNC
LOCATION
17p13.3
LOCUSID
ALIAS
DEDSSH,DPH2L,DPH2L1,OVCA1
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: 1801
MIM: 603527
HGNC: 3003
Ensembl: ENSG00000108963
Variants:
dbSNP: 1801
ClinVar: 1801
TCGA: ENSG00000108963
COSMIC: DPH1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37675463 | 2023 | DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models. | 4 |
| 37675463 | 2023 | DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models. | 4 |
| 34990869 | 2022 | The functional variant in promoter of OVCA1 was associated with the risk of gastric cancer in the northeast Chinese Han population. | 0 |
| 34990869 | 2022 | The functional variant in promoter of OVCA1 was associated with the risk of gastric cancer in the northeast Chinese Han population. | 0 |
| 33704902 | 2021 | An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome). | 2 |
| 33704902 | 2021 | An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome). | 2 |
| 30877278 | 2020 | DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. | 10 |
| 33057331 | 2020 | Identification of the transcription factor Miz1 as an essential regulator of diphthamide biosynthesis using a CRISPR-mediated genome-wide screen. | 2 |
| 30877278 | 2020 | DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. | 10 |
| 33057331 | 2020 | Identification of the transcription factor Miz1 as an essential regulator of diphthamide biosynthesis using a CRISPR-mediated genome-wide screen. | 2 |
| 29362492 | 2018 | Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities. | 7 |
| 29410513 | 2018 | A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features. | 9 |
| 29362492 | 2018 | Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities. | 7 |
| 29410513 | 2018 | A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features. | 9 |
| 29145210 | 2017 | Diphthamide Biosynthesis 1 is a Novel Oncogene in Colorectal Cancer Cells and is Regulated by MiR-218-5p. | 11 |
Citation
Dessen P
DPH1 (diphthamide biosynthesis 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/40359/dph1
