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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 EPHA8 |
 Gene summary |
| Gene information | Gene symbol | EPHA8 | Gene ID | 2046 |
| Gene name | EPH receptor A8 | |
| Synonyms | EEK|EK3|HEK3 | |
| Cytomap | 1p36.12 | |
| Type of gene | protein-coding | |
| Description | ephrin type-A receptor 8EPH- and ELK-related kinaseEPH- and ELK-related tyrosine kinaseEPH-like kinase 3hydroxyaryl-protein kinaseprotein-tyrosine kinasetyrosine-protein kinase receptor EEKtyrosylprotein kinase | |
| Modification date | 20180523 | |
| UniProtAcc | P29322 | |
| Context | PubMed: EPHA8 [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 |
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Exon skipping events across known transcript of Ensembl for EPHA8 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 EPHA8 |
| 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 EPHA8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2355 | 1 | 22902709:22903373:22912972:22913128:22915363:22915699 | 22912972:22913128 | ENSG00000070886.6 | ENST00000166244.3,ENST00000538803.1,ENST00000374644.4 |
| exon_skip_2358 | 1 | 22924643:22924705:22925330:22925540:22927153:22927303 | 22925330:22925540 | ENSG00000070886.6 | ENST00000166244.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EPHA8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2355 | 1 | 22902709:22903373:22912972:22913128:22915363:22915699 | 22912972:22913128 | ENSG00000070886.6 | ENST00000374644.4,ENST00000166244.3,ENST00000538803.1 |
| exon_skip_2358 | 1 | 22924643:22924705:22925330:22925540:22927153:22927303 | 22925330:22925540 | ENSG00000070886.6 | ENST00000166244.3 |
| 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 EPHA8 |
| 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 |
| ENST00000166244 | 22912972 | 22913128 | In-frame |
| ENST00000166244 | 22925330 | 22925540 | 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 |
| ENST00000166244 | 22912972 | 22913128 | In-frame |
| ENST00000166244 | 22925330 | 22925540 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EPHA8 |
| 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 |
| ENST00000166244 | 4960 | 1005 | 22912972 | 22913128 | 896 | 1051 | 274 | 326 |
| ENST00000166244 | 4960 | 1005 | 22925330 | 22925540 | 2251 | 2460 | 726 | 796 |
| 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 |
| ENST00000166244 | 4960 | 1005 | 22912972 | 22913128 | 896 | 1051 | 274 | 326 |
| ENST00000166244 | 4960 | 1005 | 22925330 | 22925540 | 2251 | 2460 | 726 | 796 |
| 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 |
| P29322 | 274 | 326 | 28 | 1005 | Chain | ID=PRO_0000016822;Note=Ephrin type-A receptor 8 |
| P29322 | 274 | 326 | 191 | 325 | Compositional bias | Note=Cys-rich |
| P29322 | 274 | 326 | 321 | 321 | Natural variant | ID=VAR_061292;Note=P->L;Dbxref=dbSNP:rs56656925 |
| P29322 | 274 | 326 | 28 | 542 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29322 | 726 | 796 | 760 | 760 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028 |
| P29322 | 726 | 796 | 496 | 1005 | Alternative sequence | ID=VSP_041947;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P29322 | 726 | 796 | 766 | 768 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KUL |
| P29322 | 726 | 796 | 774 | 776 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KUL |
| P29322 | 726 | 796 | 28 | 1005 | Chain | ID=PRO_0000016822;Note=Ephrin type-A receptor 8 |
| P29322 | 726 | 796 | 635 | 896 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P29322 | 726 | 796 | 721 | 726 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KUL |
| P29322 | 726 | 796 | 734 | 753 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KUL |
| P29322 | 726 | 796 | 763 | 765 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KUL |
| P29322 | 726 | 796 | 564 | 1005 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29322 | 726 | 796 | 727 | 730 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KUL |
| 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 |
| P29322 | 274 | 326 | 28 | 1005 | Chain | ID=PRO_0000016822;Note=Ephrin type-A receptor 8 |
| P29322 | 274 | 326 | 191 | 325 | Compositional bias | Note=Cys-rich |
| P29322 | 274 | 326 | 321 | 321 | Natural variant | ID=VAR_061292;Note=P->L;Dbxref=dbSNP:rs56656925 |
| P29322 | 274 | 326 | 28 | 542 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29322 | 726 | 796 | 760 | 760 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028 |
| P29322 | 726 | 796 | 496 | 1005 | Alternative sequence | ID=VSP_041947;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P29322 | 726 | 796 | 766 | 768 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KUL |
| P29322 | 726 | 796 | 774 | 776 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KUL |
| P29322 | 726 | 796 | 28 | 1005 | Chain | ID=PRO_0000016822;Note=Ephrin type-A receptor 8 |
| P29322 | 726 | 796 | 635 | 896 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P29322 | 726 | 796 | 721 | 726 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KUL |
| P29322 | 726 | 796 | 734 | 753 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KUL |
| P29322 | 726 | 796 | 763 | 765 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KUL |
| P29322 | 726 | 796 | 564 | 1005 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29322 | 726 | 796 | 727 | 730 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3KUL |
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SNVs in the skipped exons for EPHA8 |
| - 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 |
| STAD | TCGA-BR-A4QL-01 | exon_skip_2358 | 22925331 | 22925540 | 22925427 | 22925427 | Nonsense_Mutation | C | T | p.R759* |
| - 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 |
| SW156_KIDNEY | 22912973 | 22913128 | 22912994 | 22912994 | Missense_Mutation | A | G | p.K282R |
| MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 22912973 | 22913128 | 22913059 | 22913059 | Missense_Mutation | G | T | p.A304S |
| EN_ENDOMETRIUM | 22925331 | 22925540 | 22925404 | 22925404 | Missense_Mutation | T | C | p.L751P |
| RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 22925331 | 22925540 | 22925443 | 22925443 | Missense_Mutation | G | T | p.R764L |
| SKOV3_OVARY | 22912973 | 22913128 | 22912974 | 22912974 | Splice_Site | C | A | p.A275A |
| LS180_LARGE_INTESTINE | 22925331 | 22925540 | 22925539 | 22925539 | Splice_Site | C | T | p.T796M |
| PCI38_UPPER_AERODIGESTIVE_TRACT | 22925331 | 22925540 | 22925539 | 22925539 | Splice_Site | C | T | p.T796M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPHA8 |
| 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 EPHA8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPHA8 |
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RelatedDrugs for EPHA8 |
| 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 |
| P29322 | DB12010 | Fostamatinib | Ephrin type-A receptor 8 | small molecule | approved|investigational |
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RelatedDiseases for EPHA8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EPHA8 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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