| Variant ID | 29130 |
|---|---|
| Entrez Gene ID | 54583 |
| Gene | EGLN1 (GeneCards) |
| Location | hg19 1:231506328-231506328
hg38 1:231370582-231370582 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.231506328 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 1.3188 |
| CADD Raw score (version 1.3) | 0.400236 (Deleterious) |
| FATHMM raw prediction score | 0.9641 (Tolerated) |
| Deleterious probability by DeFine | 0.8466 (Deleterious) |
| 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 | 28503910.07 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |