| Region (hg19): chr1:231504897-231524897 | |||
|---|---|---|---|
| Mappability (% of bases) |
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Transcription Factor Binding Sites |
Number of elements: 12 SNPs in elements: 1 |
| Distance to closest GAP | 3.67 Mb | ORegAnno Regulatory Elements |
Number of elements: 13 SNPs in elements: 75 |
| CpG Islands | Number of elements: 0 | Vista Enhancers | Number of elements: 0 |
| InvFEST inversions (% of bases) |
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PhyloP Evolutionary Conservation (% of bases ≥ 2) |
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| DGV Structural Variants (% of bases) |
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phastCons Evolutionary Conservation (% of bases) |
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| RepeatMasker (% of bases) |
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GERP Constrained Elements (% of bases ≥ 2) |
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| Segmental Duplications (% of bases) |
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Archaic Introgresion (% of bases) |
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| TRF Simple Tandem Repeats (% of bases) |
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Denisovan (% of bases) |
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| PopHuman HaploReg Ensembl | Neanderthal (% of bases) |
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| Gene: EGLN1 | Information | |
|---|---|---|
| Function | egl-9 family hypoxia inducible factor 1 [Source:HGNC Symbol;Acc:HGNC:1232] | |
| Gene ontology | oxidation-reduction process, regulation of transcription from RNA polymerase II promoter in response to hypoxia, regulation of angiogenesis, response to hypoxia, negative regulation of cAMP catabolic process, negative regulation of cyclic-nucleotide phosphodiesterase activity, oxygen homeostasis, negative regulation of DNA binding transcription factor activity, peptidyl-proline hydroxylation to 4-hydroxy-L-proline, cellular iron ion homeostasis, positive regulation of transcription from RNA polymerase II promoter, cardiac muscle tissue morphogenesis, heart trabecula formation, ventricular septum morphogenesis | |
| Links to external databases |
Ensembl
NCBI
Uniprot
UCSC
Expression Atlas OMIM OpenTargets HumanMine |
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| References ( Log in to add new references) |
Simonson et al 2010, Yi et al 2010, Bigham et al 2010, Xu et al 2010, Pagani et al 2011, Wuren et al 2014, Bitarello et al 2018 | |