Gene table of EPAS1 : endothelial PAS domain protein 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with EPAS1	OMIM link	Number of associated genes	genes
PS133100	ERYTHROCYTOSIS, FAMILIAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	6	VHL, EPAS1, JAK2, SH2B3, EPOR, EGLN1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Renal cell carcinoma	hsa05211	6.6
Pathways in cancer	hsa05200	3.98

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Cellular response to hypoxia	R-HSA-2262749	8.4
Regulation of gene expression by Hypoxia-inducible Factor	R-HSA-1234158	9.81
Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha	R-HSA-1234162	11.4
Cellular responses to stress	R-HSA-2262752	4.56
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha	R-HSA-1234176	8.89
Transcriptional regulation of pluripotent stem cells	R-HSA-452723	7.94
Regulation of Hypoxia-inducible Factor (HIF) by oxygen	R-HSA-1234174	8.4
Developmental Biology	R-HSA-1266738	3.48

Associated GO terms for Molecular function

GO term	GO ID	GO IC
sequence-specific DNA binding	GO:0043565	2.79
histone acetyltransferase binding	GO:0035035	6.41
protein binding	GO:0005515	0.46
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcription factor binding	GO:0008134	3.46
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
enzyme binding	GO:0019899	2.27
heterocyclic compound binding	GO:1901363	1.06
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
protein dimerization activity	GO:0046983	2.72
protein heterodimerization activity	GO:0046982	3.64
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
nucleic acid binding transcription factor activity	GO:0001071	2.65