| Variant ID | 2072 |
|---|---|
| Entrez Gene ID | 54583 |
| Gene | EGLN1 (GeneCards) |
| Location | hg19 1:231517879-231517879
hg38 1:231382133-231382133 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.231517879 C>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2939 |
| CADD Raw score (version 1.3) | -0.045558 (Deleterious) |
| FATHMM raw prediction score | 0.08388 (Tolerated) |
| Deleterious probability by DeFine | 0.2558 (Neutral) |
| Entrez Gene ID | 54583 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EGLN1 (GeneCards) |
| Number of variants in EGLN1 in this database | 2 (view all the variants) |
| Full name | egl-9 family hypoxia inducible factor 1 |
| Band | 1q42.2 |
| Other IDs | Vega: OTTHUMG00000038027 OMIM: 606425 HGNC: HGNC:1232 Ensembl: ENSG00000135766 |
| Other names | HPH2, PHD2, SM20, ECYT3, HALAH, HPH-2, HIFPH2, ZMYND6, C1orf12, HIF-PH2 |
| Summary | The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009] |
| Individual ID | 29217584.09 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |