Gene: EPAS1 ENSG00000116016

Description

endothelial PAS domain protein 1 [Source:HGNC Symbol;Acc:3374]

Gene Synonyms

BHLHE73, ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73

Location

Chromosome 2: 46,520,806-46,613,836 forward strand.

GRCh37:CM000664.1

About this gene

This gene has 10 transcripts (splice variants), 14 paralogues and is associated with 60 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000263734.3	EPAS1-001	5160	870aa	ENSP00000263734.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1825	B3KW07 C9J9N2 Q53SM6 Q99814	NM_001430.4	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000449347.1	EPAS1-007	1067	259aa	ENSP00000406137.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9J9N2	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000467888.1	EPAS1-004	665	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000460015.1	EPAS1-002	558	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000475822.1	EPAS1-003	551	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000468530.1	EPAS1-009	452	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000466465.1	EPAS1-010	3622	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000465318.1	EPAS1-006	741	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000483692.1	EPAS1-008	657	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000463191.1	EPAS1-005	559	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: EPAS1 ENSG00000116016

Summary