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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 EPHA2 |
 Gene summary |
| Gene information | Gene symbol | EPHA2 | Gene ID | 1969 |
| Gene name | EPH receptor A2 | |
| Synonyms | ARCC2|CTPA|CTPP1|CTRCT6|ECK | |
| Cytomap | 1p36.13 | |
| Type of gene | protein-coding | |
| Description | ephrin type-A receptor 2epithelial cell receptor protein tyrosine kinasesoluble EPHA2 variant 1tyrosine-protein kinase receptor ECK | |
| Modification date | 20180523 | |
| UniProtAcc | P29317 | |
| Context | PubMed: EPHA2 [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 |
| EPHA2 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 18339848 |
| EPHA2 | GO:0033628 | regulation of cell adhesion mediated by integrin | 10655584 |
| EPHA2 | GO:0043491 | protein kinase B signaling | 19573808 |
| EPHA2 | GO:0048013 | ephrin receptor signaling pathway | 10655584|20861311 |
| EPHA2 | GO:0051898 | negative regulation of protein kinase B signaling | 19573808 |
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Exon skipping events across known transcript of Ensembl for EPHA2 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 EPHA2 |
| 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 EPHA2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_22012 | 1 | 16455928:16456084:16456720:16456914:16458215:16458365 | 16456720:16456914 | ENSG00000142627.9 | ENST00000358432.5 |
| exon_skip_22016 | 1 | 16456720:16456914:16458215:16458365:16458558:16458768 | 16458215:16458365 | ENSG00000142627.9 | ENST00000358432.5 |
| exon_skip_22018 | 1 | 16461054:16461062:16461530:16461684:16462149:16462265 | 16461530:16461684 | ENSG00000142627.9 | ENST00000480202.1,ENST00000358432.5 |
| exon_skip_22024 | 1 | 16461530:16461684:16462149:16462265:16464347:16464680 | 16462149:16462265 | ENSG00000142627.9 | ENST00000480202.1,ENST00000358432.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EPHA2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_22012 | 1 | 16455928:16456084:16456720:16456914:16458215:16458365 | 16456720:16456914 | ENSG00000142627.9 | ENST00000358432.5 |
| exon_skip_22016 | 1 | 16456720:16456914:16458215:16458365:16458558:16458768 | 16458215:16458365 | ENSG00000142627.9 | ENST00000358432.5 |
| exon_skip_22018 | 1 | 16461054:16461062:16461530:16461684:16462149:16462265 | 16461530:16461684 | ENSG00000142627.9 | ENST00000358432.5,ENST00000480202.1 |
| exon_skip_22024 | 1 | 16461530:16461684:16462149:16462265:16464347:16464680 | 16462149:16462265 | ENSG00000142627.9 | ENST00000358432.5,ENST00000480202.1 |
| 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 EPHA2 |
| 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 |
| ENST00000358432 | 16456720 | 16456914 | Frame-shift |
| ENST00000358432 | 16461530 | 16461684 | Frame-shift |
| ENST00000358432 | 16462149 | 16462265 | Frame-shift |
| ENST00000358432 | 16458215 | 16458365 | 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 |
| ENST00000358432 | 16456720 | 16456914 | Frame-shift |
| ENST00000358432 | 16461530 | 16461684 | Frame-shift |
| ENST00000358432 | 16462149 | 16462265 | Frame-shift |
| ENST00000358432 | 16458215 | 16458365 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EPHA2 |
| 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 |
| ENST00000358432 | 3981 | 976 | 16458215 | 16458365 | 2481 | 2630 | 775 | 825 |
| 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 |
| ENST00000358432 | 3981 | 976 | 16458215 | 16458365 | 2481 | 2630 | 775 | 825 |
| 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 |
| P29317 | 775 | 825 | 498 | 976 | Alternative sequence | ID=VSP_056015;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18593464;Dbxref=PMID:18593464 |
| P29317 | 775 | 825 | 776 | 778 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NKH |
| P29317 | 775 | 825 | 24 | 976 | Chain | ID=PRO_0000016800;Note=Ephrin type-A receptor 2 |
| P29317 | 775 | 825 | 613 | 875 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P29317 | 775 | 825 | 781 | 783 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NKF |
| P29317 | 775 | 825 | 786 | 791 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NKF |
| P29317 | 775 | 825 | 796 | 811 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NKF |
| P29317 | 775 | 825 | 823 | 831 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NKF |
| P29317 | 775 | 825 | 777 | 777 | Natural variant | ID=VAR_042124;Note=In a gastric adenocarcinoma sample%3B somatic mutation. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs922655349,PMID:17344846 |
| P29317 | 775 | 825 | 606 | 906 | Region | Note=Mediates interaction with ARHGEF16 and ELMO2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20679435;Dbxref=PMID:20679435 |
| P29317 | 775 | 825 | 559 | 976 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29317 | 775 | 825 | 817 | 820 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NKF |
| 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 |
| P29317 | 775 | 825 | 498 | 976 | Alternative sequence | ID=VSP_056015;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18593464;Dbxref=PMID:18593464 |
| P29317 | 775 | 825 | 776 | 778 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NKH |
| P29317 | 775 | 825 | 24 | 976 | Chain | ID=PRO_0000016800;Note=Ephrin type-A receptor 2 |
| P29317 | 775 | 825 | 613 | 875 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P29317 | 775 | 825 | 781 | 783 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NKF |
| P29317 | 775 | 825 | 786 | 791 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NKF |
| P29317 | 775 | 825 | 796 | 811 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NKF |
| P29317 | 775 | 825 | 823 | 831 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NKF |
| P29317 | 775 | 825 | 777 | 777 | Natural variant | ID=VAR_042124;Note=In a gastric adenocarcinoma sample%3B somatic mutation. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs922655349,PMID:17344846 |
| P29317 | 775 | 825 | 606 | 906 | Region | Note=Mediates interaction with ARHGEF16 and ELMO2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20679435;Dbxref=PMID:20679435 |
| P29317 | 775 | 825 | 559 | 976 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29317 | 775 | 825 | 817 | 820 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NKF |
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SNVs in the skipped exons for EPHA2 |
| - 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. |
| - 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 |
| COAD | TCGA-CM-4746-01 | exon_skip_22018 | 16461531 | 16461684 | 16461564 | 16461564 | Frame_Shift_Del | C | - | p.A517fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_22018 | 16461531 | 16461684 | 16461617 | 16461617 | Frame_Shift_Del | G | - | p.P499fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_22018 | 16461531 | 16461684 | 16461647 | 16461647 | Frame_Shift_Del | C | - | p.G489fs |
| COAD | TCGA-A6-6781-01 | exon_skip_22024 | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P460fs |
| COAD | TCGA-CM-4743-01 | exon_skip_22024 | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P460fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_22024 | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P461fs |
| STAD | TCGA-BR-4362-01 | exon_skip_22024 | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P460fs |
| STAD | TCGA-CG-5721-01 | exon_skip_22024 | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P460fs |
| STAD | TCGA-F1-6177-01 | exon_skip_22024 | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P460fs |
| STAD | TCGA-FP-A4BE-01 | exon_skip_22024 | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P460fs |
| STAD | TCGA-HU-A4GN-01 | exon_skip_22024 | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P460fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_22024 | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P460fs |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_22024 | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P460fs |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_22024 | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P460fs |
| UCEC | TCGA-D1-A17D-01 | exon_skip_22024 | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P460fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_22024 | 16462150 | 16462265 | 16462258 | 16462258 | Frame_Shift_Del | G | - | p.K441fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_22024 | 16462150 | 16462265 | 16462258 | 16462258 | Frame_Shift_Del | G | - | p.P440fs |
| BLCA | TCGA-4Z-AA7Y-01 | exon_skip_22024 | 16462150 | 16462265 | 16462198 | 16462199 | Frame_Shift_Ins | - | G | p.P460fs |
| LGG | TCGA-DU-6407-02 | exon_skip_22012 | 16456721 | 16456914 | 16456828 | 16456828 | Nonsense_Mutation | C | T | p.W854* |
| HNSC | TCGA-CV-7252-01 | exon_skip_22012 | 16456721 | 16456914 | 16456829 | 16456829 | Nonsense_Mutation | C | T | p.W854* |
| CHOL | TCGA-W5-AA2G-01 | exon_skip_22024 | 16462150 | 16462265 | 16462176 | 16462176 | Nonsense_Mutation | T | A | p.K468* |
| CHOL | TCGA-W5-AA2G-01 | exon_skip_22024 | 16462150 | 16462265 | 16462176 | 16462176 | Nonsense_Mutation | T | A | p.K468X |
| HNSC | TCGA-BA-6873-01 | exon_skip_22024 | 16462150 | 16462265 | 16462185 | 16462185 | Nonsense_Mutation | G | A | p.R465* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| PACADD137_PANCREAS | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P461fs |
| HEC151_ENDOMETRIUM | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P461fs |
| HEC265_ENDOMETRIUM | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P461fs |
| HEC59_ENDOMETRIUM | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P461fs |
| HEC6_ENDOMETRIUM | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P461fs |
| AN3CA_ENDOMETRIUM | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P461fs |
| IGROV1_OVARY | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P461fs |
| MFE319_ENDOMETRIUM | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P461fs |
| SW48_LARGE_INTESTINE | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P461fs |
| EN_ENDOMETRIUM | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P461fs |
| JHUEM1_ENDOMETRIUM | 16462150 | 16462265 | 16462199 | 16462199 | Frame_Shift_Del | G | - | p.P461fs |
| HEC151_ENDOMETRIUM | 16461531 | 16461684 | 16461616 | 16461617 | Frame_Shift_Ins | - | G | p.P499fs |
| CFPAC1_PANCREAS | 16462150 | 16462265 | 16462198 | 16462199 | Frame_Shift_Ins | - | G | p.P460fs |
| NCIH1373_LUNG | 16456721 | 16456914 | 16456761 | 16456761 | Missense_Mutation | C | A | p.A877S |
| HEC1B_ENDOMETRIUM | 16456721 | 16456914 | 16456866 | 16456866 | Missense_Mutation | A | G | p.C842R |
| MEWO_SKIN | 16456721 | 16456914 | 16456883 | 16456883 | Missense_Mutation | A | C | p.L836R |
| HCC2108_LUNG | 16456721 | 16456914 | 16456904 | 16456904 | Missense_Mutation | G | T | p.A829D |
| MORCPR_LUNG | 16456721 | 16456914 | 16456904 | 16456904 | Missense_Mutation | G | T | p.A829D |
| RH18_SOFT_TISSUE | 16456721 | 16456914 | 16456905 | 16456905 | Missense_Mutation | C | A | p.A829S |
| LIM1215_LARGE_INTESTINE | 16458216 | 16458365 | 16458244 | 16458244 | Missense_Mutation | C | T | p.R816Q |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16458216 | 16458365 | 16458245 | 16458245 | Missense_Mutation | G | A | p.R816W |
| GSU_STOMACH | 16458216 | 16458365 | 16458288 | 16458288 | Missense_Mutation | C | A | p.W801C |
| SN12C_KIDNEY | 16458216 | 16458365 | 16458317 | 16458317 | Missense_Mutation | G | A | p.R792W |
| DMS454_LUNG | 16458216 | 16458365 | 16458338 | 16458338 | Missense_Mutation | C | A | p.A785S |
| TOV21G_OVARY | 16458216 | 16458365 | 16458338 | 16458338 | Missense_Mutation | C | T | p.A785T |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16458216 | 16458365 | 16458346 | 16458346 | Missense_Mutation | C | T | p.R782H |
| SNU407_LARGE_INTESTINE | 16461531 | 16461684 | 16461618 | 16461618 | Missense_Mutation | G | T | p.P499T |
| SNGM_ENDOMETRIUM | 16462150 | 16462265 | 16462196 | 16462196 | Missense_Mutation | G | T | p.P461Q |
| ACHN_KIDNEY | 16462150 | 16462265 | 16462199 | 16462199 | Missense_Mutation | G | A | p.P460L |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16462150 | 16462265 | 16462235 | 16462235 | Missense_Mutation | C | A | p.S448I |
| L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16462150 | 16462265 | 16462256 | 16462256 | Missense_Mutation | T | C | p.K441R |
| COLO792_SKIN | 16458216 | 16458365 | 16458216 | 16458216 | Splice_Site | C | G | p.E825D |
| SNU349_KIDNEY | 16458216 | 16458365 | 16458364 | 16458364 | Splice_Site | C | T | p.G776D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPHA2 |
| 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 EPHA2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPHA2 |
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RelatedDrugs for EPHA2 |
| 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 |
| P29317 | DB08896 | Regorafenib | Ephrin type-A receptor 2 | small molecule | approved | |
| P29317 | DB01254 | Dasatinib | Ephrin type-A receptor 2 | small molecule | approved|investigational | |
| P29317 | DB12010 | Fostamatinib | Ephrin type-A receptor 2 | small molecule | approved|investigational |
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RelatedDiseases for EPHA2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EPHA2 | C1861825 | CATARACT, POSTERIOR POLAR, 1 | 2 | UNIPROT |
| EPHA2 | C0028326 | Noonan Syndrome | 1 | CTD_human |
| EPHA2 | C0175704 | LEOPARD Syndrome | 1 | CTD_human |
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