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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for EPAS1 |
 Gene summary |
| Gene information | Gene symbol | EPAS1 | Gene ID | 2034 |
| Gene name | endothelial PAS domain protein 1 | |
| Synonyms | ECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73 | |
| Cytomap | 2p21 | |
| Type of gene | protein-coding | |
| Description | endothelial PAS domain-containing protein 1EPAS-1HIF-1-alpha-like factorHIF-1alpha-like factorHIF-2-alphaHIF2-alphaPAS domain-containing protein 2basic-helix-loop-helix-PAS protein MOP2class E basic helix-loop-helix protein 73hypoxia-inducible fa | |
| Modification date | 20180523 | |
| UniProtAcc | Q99814 | |
| Context | PubMed: EPAS1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| EPAS1 | GO:0001666 | response to hypoxia | 11782478 |
| EPAS1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11573933 |
| EPAS1 | GO:0071456 | cellular response to hypoxia | 11573933 |
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Exon skipping events across known transcript of Ensembl for EPAS1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for EPAS1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for EPAS1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_325297 | 2 | 46524902:46525076:46574011:46574202:46583289:46583432 | 46574011:46574202 | ENSG00000116016.9 | ENST00000449347.1,ENST00000263734.3 |
| exon_skip_325301 | 2 | 46588023:46588229:46596965:46597072:46602828:46602976 | 46596965:46597072 | ENSG00000116016.9 | ENST00000263734.3 |
| exon_skip_325303 | 2 | 46602828:46602976:46603677:46603892:46605032:46605226 | 46603677:46603892 | ENSG00000116016.9 | ENST00000483692.1,ENST00000263734.3 |
| exon_skip_325305 | 2 | 46603677:46603892:46605032:46605226:46605795:46605841 | 46605032:46605226 | ENSG00000116016.9 | ENST00000483692.1,ENST00000263734.3 |
| exon_skip_325306 | 2 | 46605795:46605906:46607365:46607856:46608734:46608861 | 46607365:46607856 | ENSG00000116016.9 | ENST00000263734.3 |
| exon_skip_325308 | 2 | 46608773:46608861:46609113:46609228:46609563:46609643 | 46609113:46609228 | ENSG00000116016.9 | ENST00000263734.3,ENST00000465318.1,ENST00000466465.1,ENST00000468530.1 |
| exon_skip_325311 | 2 | 46609113:46609228:46609563:46609737:46611647:46613835 | 46609563:46609737 | ENSG00000116016.9 | ENST00000263734.3,ENST00000466465.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EPAS1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_325297 | 2 | 46524902:46525076:46574011:46574202:46583289:46583432 | 46574011:46574202 | ENSG00000116016.9 | ENST00000449347.1,ENST00000263734.3 |
| exon_skip_325301 | 2 | 46588023:46588229:46596965:46597072:46602828:46602976 | 46596965:46597072 | ENSG00000116016.9 | ENST00000263734.3 |
| exon_skip_325303 | 2 | 46602828:46602976:46603677:46603892:46605032:46605226 | 46603677:46603892 | ENSG00000116016.9 | ENST00000263734.3,ENST00000483692.1 |
| exon_skip_325305 | 2 | 46603677:46603892:46605032:46605226:46605795:46605841 | 46605032:46605226 | ENSG00000116016.9 | ENST00000263734.3,ENST00000483692.1 |
| exon_skip_325306 | 2 | 46605795:46605906:46607365:46607856:46608734:46608861 | 46607365:46607856 | ENSG00000116016.9 | ENST00000263734.3 |
| exon_skip_325308 | 2 | 46608773:46608861:46609113:46609228:46609563:46609643 | 46609113:46609228 | ENSG00000116016.9 | ENST00000263734.3,ENST00000466465.1,ENST00000465318.1,ENST00000468530.1 |
| exon_skip_325311 | 2 | 46609113:46609228:46609563:46609737:46611647:46613835 | 46609563:46609737 | ENSG00000116016.9 | ENST00000263734.3,ENST00000466465.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for EPAS1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000263734 | 46574011 | 46574202 | Frame-shift |
| ENST00000263734 | 46596965 | 46597072 | Frame-shift |
| ENST00000263734 | 46603677 | 46603892 | Frame-shift |
| ENST00000263734 | 46605032 | 46605226 | Frame-shift |
| ENST00000263734 | 46607365 | 46607856 | Frame-shift |
| ENST00000263734 | 46609113 | 46609228 | Frame-shift |
| ENST00000263734 | 46609563 | 46609737 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000263734 | 46574011 | 46574202 | Frame-shift |
| ENST00000263734 | 46596965 | 46597072 | Frame-shift |
| ENST00000263734 | 46603677 | 46603892 | Frame-shift |
| ENST00000263734 | 46605032 | 46605226 | Frame-shift |
| ENST00000263734 | 46607365 | 46607856 | Frame-shift |
| ENST00000263734 | 46609113 | 46609228 | Frame-shift |
| ENST00000263734 | 46609563 | 46609737 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EPAS1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000263734 | 5177 | 870 | 46609563 | 46609737 | 2798 | 2971 | 762 | 820 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000263734 | 5177 | 870 | 46609563 | 46609737 | 2798 | 2971 | 762 | 820 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q99814 | 762 | 820 | 1 | 870 | Chain | ID=PRO_0000127419;Note=Endothelial PAS domain-containing protein 1 |
| Q99814 | 762 | 820 | 766 | 766 | Natural variant | ID=VAR_061261;Note=T->P;Dbxref=dbSNP:rs59901247 |
| Q99814 | 762 | 820 | 785 | 785 | Natural variant | ID=VAR_061262;Note=P->T;Dbxref=dbSNP:rs61518065 |
| Q99814 | 762 | 820 | 765 | 765 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99814 | 762 | 820 | 769 | 769 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q99814 | 762 | 820 | 1 | 870 | Chain | ID=PRO_0000127419;Note=Endothelial PAS domain-containing protein 1 |
| Q99814 | 762 | 820 | 766 | 766 | Natural variant | ID=VAR_061261;Note=T->P;Dbxref=dbSNP:rs59901247 |
| Q99814 | 762 | 820 | 785 | 785 | Natural variant | ID=VAR_061262;Note=P->T;Dbxref=dbSNP:rs61518065 |
| Q99814 | 762 | 820 | 765 | 765 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99814 | 762 | 820 | 769 | 769 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for EPAS1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
EPAS1_ESCA_exon_skip_325306_psi_boxplot.png |
EPAS1_LIHC_exon_skip_325306_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LUAD | TCGA-17-Z018-01 | exon_skip_325297 | 46574012 | 46574202 | 46574181 | 46574182 | Frame_Shift_Del | AC | - | p.T66fs |
| GBM | TCGA-06-5417-01 | exon_skip_325303 | 46603678 | 46603892 | 46603736 | 46603736 | Frame_Shift_Del | C | - | p.P365fs |
| PRAD | TCGA-KK-A8II-01 | exon_skip_325306 | 46607366 | 46607856 | 46607543 | 46607543 | Frame_Shift_Del | G | - | p.A578fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_325306 | 46607366 | 46607856 | 46607658 | 46607658 | Frame_Shift_Del | C | - | p.S616fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_325306 | 46607366 | 46607856 | 46607749 | 46607749 | Frame_Shift_Del | T | - | p.H646fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_325306 | 46607366 | 46607856 | 46607749 | 46607749 | Frame_Shift_Del | T | - | p.H646fs |
| UCEC | TCGA-AX-A060-01 | exon_skip_325306 | 46607366 | 46607856 | 46607816 | 46607816 | Frame_Shift_Del | C | - | p.P669fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_325311 | 46609564 | 46609737 | 46609673 | 46609673 | Frame_Shift_Del | C | - | p.F799fs |
| ESCA | TCGA-IG-A8O2-01 | exon_skip_325306 | 46607366 | 46607856 | 46607509 | 46607510 | Frame_Shift_Ins | - | A | p.A566fs |
| ESCA | TCGA-IG-A8O2-01 | exon_skip_325306 | 46607366 | 46607856 | 46607509 | 46607510 | Frame_Shift_Ins | - | A | p.D567fs |
| ESCA | TCGA-IG-A8O2-01 | exon_skip_325306 | 46607366 | 46607856 | 46607509 | 46607510 | Frame_Shift_Ins | - | A | p.M566fs |
| BRCA | TCGA-BH-A0HA-01 | exon_skip_325306 | 46607366 | 46607856 | 46607728 | 46607728 | Nonsense_Mutation | G | A | p.W639* |
| UCEC | TCGA-D1-A103-01 | exon_skip_325306 | 46607366 | 46607856 | 46607728 | 46607728 | Nonsense_Mutation | G | A | p.W639* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IG-A8O2-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_325306 | |
| Skipped exon start: 46607366 | |
| Skipped exon end: 46607856 | |
| Mutation start: 46607509 | |
| Mutation end: 46607510 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.A566fs | |
| Sample: TCGA-IG-A8O2-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_325306 | |
| Skipped exon start: 46607366 | |
| Skipped exon end: 46607856 | |
| Mutation start: 46607509 | |
| Mutation end: 46607510 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.D567fs | |
| Sample: TCGA-IG-A8O2-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_325306 | |
| Skipped exon start: 46607366 | |
| Skipped exon end: 46607856 | |
| Mutation start: 46607509 | |
| Mutation end: 46607510 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.M566fs | |
exon_skip_325306_ESCA_TCGA-IG-A8O2-01.png | |
exon_skip_333088_ESCA_TCGA-IG-A8O2-01.png | |
exon_skip_333091_ESCA_TCGA-IG-A8O2-01.png | |
exon_skip_390412_ESCA_TCGA-IG-A8O2-01.png | |
exon_skip_470694_ESCA_TCGA-IG-A8O2-01.png | |
exon_skip_500192_ESCA_TCGA-IG-A8O2-01.png | |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| IGROV1_OVARY | 46607366 | 46607856 | 46607487 | 46607487 | Frame_Shift_Del | C | - | p.T559fs |
| IM95_STOMACH | 46609564 | 46609737 | 46609673 | 46609673 | Frame_Shift_Del | C | - | p.F799fs |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46609564 | 46609737 | 46609673 | 46609673 | Frame_Shift_Del | C | - | p.F799fs |
| TT_OESOPHAGUS | 46603678 | 46603892 | 46603681 | 46603682 | Frame_Shift_Ins | - | A | p.I347fs |
| K5_THYROID | 46574012 | 46574202 | 46574083 | 46574083 | Missense_Mutation | T | G | p.V33G |
| 5637_URINARY_TRACT | 46574012 | 46574202 | 46574083 | 46574083 | Missense_Mutation | T | G | p.V33G |
| KPNYN_AUTONOMIC_GANGLIA | 46574012 | 46574202 | 46574083 | 46574083 | Missense_Mutation | T | G | p.V33G |
| MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46574012 | 46574202 | 46574083 | 46574083 | Missense_Mutation | T | G | p.V33G |
| VAESBJ_SOFT_TISSUE | 46574012 | 46574202 | 46574083 | 46574083 | Missense_Mutation | T | G | p.V33G |
| MET2B | 46574012 | 46574202 | 46574179 | 46574179 | Missense_Mutation | G | A | p.R65Q |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46574012 | 46574202 | 46574190 | 46574190 | Missense_Mutation | C | A | p.L69I |
| HEC108_ENDOMETRIUM | 46596966 | 46597072 | 46596989 | 46596989 | Missense_Mutation | A | G | p.H268R |
| KM12_LARGE_INTESTINE | 46596966 | 46597072 | 46597013 | 46597013 | Missense_Mutation | C | T | p.S276L |
| NCIH2291_LUNG | 46596966 | 46597072 | 46597045 | 46597045 | Missense_Mutation | G | A | p.E287K |
| CALU3_LUNG | 46603678 | 46603892 | 46603707 | 46603707 | Missense_Mutation | C | G | p.S355C |
| HEC1A_ENDOMETRIUM | 46603678 | 46603892 | 46603808 | 46603808 | Missense_Mutation | C | A | p.L389I |
| U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46603678 | 46603892 | 46603851 | 46603851 | Missense_Mutation | T | G | p.L403R |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46605033 | 46605226 | 46605111 | 46605111 | Missense_Mutation | G | A | p.R443K |
| IALM_LUNG | 46605033 | 46605226 | 46605177 | 46605177 | Missense_Mutation | C | G | p.P465R |
| SH4_SKIN | 46607366 | 46607856 | 46607376 | 46607376 | Missense_Mutation | A | G | p.N522S |
| NCIH1573_LUNG | 46607366 | 46607856 | 46607423 | 46607423 | Missense_Mutation | G | A | p.E538K |
| HEC6_ENDOMETRIUM | 46607366 | 46607856 | 46607459 | 46607459 | Missense_Mutation | C | T | p.R550W |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46607366 | 46607856 | 46607483 | 46607484 | Missense_Mutation | TC | AA | p.S558N |
| SKLU1_LUNG | 46607366 | 46607856 | 46607503 | 46607503 | Missense_Mutation | C | A | p.F564L |
| CW2_LARGE_INTESTINE | 46607366 | 46607856 | 46607561 | 46607561 | Missense_Mutation | C | A | p.L584I |
| 769P_KIDNEY | 46607366 | 46607856 | 46607655 | 46607655 | Missense_Mutation | C | T | p.A615V |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46607366 | 46607856 | 46607664 | 46607664 | Missense_Mutation | C | G | p.P618R |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46607366 | 46607856 | 46607738 | 46607738 | Missense_Mutation | C | T | p.P643S |
| HEC251_ENDOMETRIUM | 46607366 | 46607856 | 46607759 | 46607759 | Missense_Mutation | A | C | p.T650P |
| HCT15_LARGE_INTESTINE | 46607366 | 46607856 | 46607826 | 46607826 | Missense_Mutation | C | A | p.S672Y |
| IGR39_SKIN | 46607366 | 46607856 | 46607828 | 46607828 | Missense_Mutation | C | T | p.P673S |
| IGR37_SKIN | 46607366 | 46607856 | 46607828 | 46607828 | Missense_Mutation | C | T | p.P673S |
| GB1_CENTRAL_NERVOUS_SYSTEM | 46609114 | 46609228 | 46609216 | 46609216 | Missense_Mutation | A | G | p.N759D |
| LS180_LARGE_INTESTINE | 46609564 | 46609737 | 46609579 | 46609579 | Missense_Mutation | A | C | p.N768T |
| MZ7MEL_SKIN | 46609564 | 46609737 | 46609648 | 46609648 | Missense_Mutation | C | T | p.P791L |
| MEWO_SKIN | 46609564 | 46609737 | 46609662 | 46609662 | Missense_Mutation | A | G | p.K796E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPAS1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPAS1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPAS1 |
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RelatedDrugs for EPAS1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for EPAS1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EPAS1 | C2673187 | Erythrocytosis, Familial, 4 | 4 | CTD_human;UNIPROT |
| EPAS1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| EPAS1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| EPAS1 | C0008625 | Chromosome Aberrations | 1 | CTD_human |
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