The EPAS1 gene homepage

General information
Gene symbol EPAS1
Gene name endothelial PAS domain protein 1
Chromosome 2
Chromosomal band p21
Imprinted Unknown
Genomic reference NG_016000.1
Transcript reference NM_001430.4
Associated with diseases -
Citation reference(s) -
Curators (1) Instituto Nacional del Cancer
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 1
Hidden variants -
Date created December 31, 1969
Date last updated December 31, 1969
Version EPAS1:691231
Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer
Links to other resources
HGNC 3374
Entrez Gene 2034
PubMed articles EPAS1
OMIM - Gene 603349


Active transcripts

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Query : SELECT t.*, g.chromosome, COUNT(DISTINCT vog.id) AS variants FROM lovd_transcripts AS t LEFT OUTER JOIN lovd_genes AS g ON (t.geneid = g.id) LEFT OUTER JOIN lovd_variants_on_transcripts AS vot ON (t.id = vot.transcriptid) LEFT OUTER JOIN lovd_variants AS vog ON (vot.id = vog.id AND (vog.statusid >= 7)) WHERE (t.geneid = ?) GROUP BY t.id ORDER BY variants DESC
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