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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 EPHB2 |
 Gene summary |
| Gene information | Gene symbol | EPHB2 | Gene ID | 2048 |
| Gene name | EPH receptor B2 | |
| Synonyms | CAPB|DRT|EK5|EPHT3|ERK|Hek5|PCBC|Tyro5 | |
| Cytomap | 1p36.12 | |
| Type of gene | protein-coding | |
| Description | ephrin type-B receptor 2EPH-like kinase 5developmentally-regulated Eph-related tyrosine kinaseelk-related tyrosine kinaseeph tyrosine kinase 3protein-tyrosine kinase HEK5renal carcinoma antigen NY-REN-47tyrosine-protein kinase TYRO5tyrosine-protei | |
| Modification date | 20180523 | |
| UniProtAcc | P29323 | |
| Context | PubMed: EPHB2 [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 EPHB2 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 EPHB2 |
| 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 EPHB2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2419 | 1 | 23110884:23111569:23189529:23189685:23191369:23191705 | 23189529:23189685 | ENSG00000133216.12 | ENST00000544305.1,ENST00000374627.1,ENST00000400191.3,ENST00000374632.3,ENST00000374630.3 |
| exon_skip_2422 | 1 | 23189529:23189685:23191369:23191705:23208851:23208976 | 23191369:23191705 | ENSG00000133216.12 | ENST00000544305.1,ENST00000374627.1,ENST00000400191.3,ENST00000465676.1,ENST00000374632.3,ENST00000374630.3 |
| exon_skip_2423 | 1 | 23222906:23222971:23232479:23232602:23233202:23233450 | 23232479:23232602 | ENSG00000133216.12 | ENST00000374627.1,ENST00000400191.3,ENST00000374632.3,ENST00000374630.3 |
| exon_skip_2424 | 1 | 23233202:23233450:23234445:23234661:23235514:23235664 | 23234445:23234661 | ENSG00000133216.12 | ENST00000374627.1,ENST00000400191.3,ENST00000374632.3,ENST00000374630.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EPHB2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2419 | 1 | 23110884:23111569:23189529:23189685:23191369:23191705 | 23189529:23189685 | ENSG00000133216.12 | ENST00000544305.1,ENST00000374630.3,ENST00000400191.3,ENST00000374632.3,ENST00000374627.1 |
| exon_skip_2423 | 1 | 23222906:23222971:23232479:23232602:23233202:23233450 | 23232479:23232602 | ENSG00000133216.12 | ENST00000374630.3,ENST00000400191.3,ENST00000374632.3,ENST00000374627.1 |
| 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 EPHB2 |
| 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 |
| ENST00000400191 | 23189529 | 23189685 | In-frame |
| ENST00000400191 | 23191369 | 23191705 | In-frame |
| ENST00000400191 | 23232479 | 23232602 | In-frame |
| ENST00000400191 | 23234445 | 23234661 | 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 |
| ENST00000400191 | 23189529 | 23189685 | In-frame |
| ENST00000400191 | 23232479 | 23232602 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EPHB2 |
| 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 |
| ENST00000400191 | 4658 | 1055 | 23189529 | 23189685 | 830 | 985 | 270 | 322 |
| ENST00000400191 | 4658 | 1055 | 23191369 | 23191705 | 986 | 1321 | 322 | 434 |
| ENST00000400191 | 4658 | 1055 | 23232479 | 23232602 | 1784 | 1906 | 588 | 629 |
| ENST00000400191 | 4658 | 1055 | 23234445 | 23234661 | 2155 | 2370 | 712 | 784 |
| 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 |
| ENST00000400191 | 4658 | 1055 | 23189529 | 23189685 | 830 | 985 | 270 | 322 |
| ENST00000400191 | 4658 | 1055 | 23232479 | 23232602 | 1784 | 1906 | 588 | 629 |
| 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 |
| P29323 | 270 | 322 | 19 | 1055 | Chain | ID=PRO_0000016827;Note=Ephrin type-B receptor 2 |
| P29323 | 270 | 322 | 184 | 324 | Compositional bias | Note=Cys-rich |
| P29323 | 270 | 322 | 279 | 279 | Natural variant | ID=VAR_032854;Note=In prostate cancer. A->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15300251,ECO:0000269|PubMed:16155194,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35882952,PMID:15300251,PMID:16155194,PMID:17344846 |
| P29323 | 270 | 322 | 289 | 289 | Natural variant | ID=VAR_042172;Note=C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| P29323 | 270 | 322 | 19 | 543 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29323 | 322 | 434 | 19 | 1055 | Chain | ID=PRO_0000016827;Note=Ephrin type-B receptor 2 |
| P29323 | 322 | 434 | 184 | 324 | Compositional bias | Note=Cys-rich |
| P29323 | 322 | 434 | 324 | 434 | Domain | Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
| P29323 | 322 | 434 | 336 | 336 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29323 | 322 | 434 | 428 | 428 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29323 | 322 | 434 | 361 | 361 | Natural variant | ID=VAR_042173;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56180036,PMID:17344846 |
| P29323 | 322 | 434 | 19 | 543 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29323 | 588 | 629 | 621 | 626 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZFM |
| P29323 | 588 | 629 | 19 | 1055 | Chain | ID=PRO_0000016827;Note=Ephrin type-B receptor 2 |
| P29323 | 588 | 629 | 621 | 884 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P29323 | 588 | 629 | 618 | 620 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZFM |
| P29323 | 588 | 629 | 627 | 635 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P29323 | 588 | 629 | 589 | 589 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29323 | 588 | 629 | 565 | 1055 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29323 | 712 | 784 | 746 | 746 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028 |
| P29323 | 712 | 784 | 752 | 754 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZFM |
| P29323 | 712 | 784 | 760 | 762 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZFM |
| P29323 | 712 | 784 | 19 | 1055 | Chain | ID=PRO_0000016827;Note=Ephrin type-B receptor 2 |
| P29323 | 712 | 784 | 621 | 884 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P29323 | 712 | 784 | 707 | 712 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZFM |
| P29323 | 712 | 784 | 720 | 739 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZFM |
| P29323 | 712 | 784 | 749 | 751 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZFM |
| P29323 | 712 | 784 | 565 | 1055 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29323 | 712 | 784 | 713 | 716 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZFM |
| 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 |
| P29323 | 270 | 322 | 19 | 1055 | Chain | ID=PRO_0000016827;Note=Ephrin type-B receptor 2 |
| P29323 | 270 | 322 | 184 | 324 | Compositional bias | Note=Cys-rich |
| P29323 | 270 | 322 | 279 | 279 | Natural variant | ID=VAR_032854;Note=In prostate cancer. A->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15300251,ECO:0000269|PubMed:16155194,ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs35882952,PMID:15300251,PMID:16155194,PMID:17344846 |
| P29323 | 270 | 322 | 289 | 289 | Natural variant | ID=VAR_042172;Note=C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| P29323 | 270 | 322 | 19 | 543 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P29323 | 588 | 629 | 621 | 626 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZFM |
| P29323 | 588 | 629 | 19 | 1055 | Chain | ID=PRO_0000016827;Note=Ephrin type-B receptor 2 |
| P29323 | 588 | 629 | 621 | 884 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P29323 | 588 | 629 | 618 | 620 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZFM |
| P29323 | 588 | 629 | 627 | 635 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P29323 | 588 | 629 | 589 | 589 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29323 | 588 | 629 | 565 | 1055 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for EPHB2 |
| - 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-CD-A4MJ-01 | exon_skip_2422 | 23191370 | 23191705 | 23191383 | 23191384 | Frame_Shift_Ins | - | C | p.A327fs |
| STAD | TCGA-CD-A4MJ-01 | exon_skip_2422 | 23191370 | 23191705 | 23191384 | 23191385 | Frame_Shift_Ins | - | C | p.A327fs |
| BLCA | TCGA-G2-AA3B-01 | exon_skip_2419 | 23189530 | 23189685 | 23189568 | 23189568 | Nonsense_Mutation | G | T | p.E284* |
| LUAD | TCGA-35-5375-01 | exon_skip_2422 | 23191370 | 23191705 | 23191570 | 23191570 | Nonsense_Mutation | G | T | p.E390* |
| - 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 |
| MERO82_LUNG | 23191370 | 23191705 | 23191378 | 23191378 | Missense_Mutation | T | C | p.S326P |
| CCK81_LARGE_INTESTINE | 23191370 | 23191705 | 23191423 | 23191423 | Missense_Mutation | A | G | p.M341V |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23191370 | 23191705 | 23191430 | 23191430 | Missense_Mutation | A | G | p.E343G |
| NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23191370 | 23191705 | 23191444 | 23191444 | Missense_Mutation | C | T | p.R348C |
| SKMEL2_SKIN | 23191370 | 23191705 | 23191451 | 23191451 | Missense_Mutation | C | T | p.S350F |
| SNU1040_LARGE_INTESTINE | 23191370 | 23191705 | 23191507 | 23191507 | Missense_Mutation | C | T | p.R369W |
| HEC108_ENDOMETRIUM | 23191370 | 23191705 | 23191519 | 23191519 | Missense_Mutation | A | G | p.T373A |
| SARC9371_BONE | 23191370 | 23191705 | 23191528 | 23191528 | Missense_Mutation | G | A | p.G376R |
| NUGC3_STOMACH | 23191370 | 23191705 | 23191538 | 23191538 | Missense_Mutation | T | C | p.V379A |
| UMCHOR1_BONE | 23191370 | 23191705 | 23191553 | 23191553 | Missense_Mutation | G | A | p.R384H |
| HCC2279_LUNG | 23191370 | 23191705 | 23191642 | 23191642 | Missense_Mutation | G | A | p.V414I |
| MORCPR_LUNG | 23191370 | 23191705 | 23191654 | 23191654 | Missense_Mutation | A | T | p.S418C |
| KYSE410_OESOPHAGUS | 23191370 | 23191705 | 23191657 | 23191657 | Missense_Mutation | C | T | p.P419S |
| 786O_KIDNEY | 23191370 | 23191705 | 23191674 | 23191674 | Missense_Mutation | C | G | p.F424L |
| GMEL_SKIN | 23232480 | 23232602 | 23232519 | 23232519 | Missense_Mutation | A | T | p.Y602F |
| HEC1A_ENDOMETRIUM | 23232480 | 23232602 | 23232543 | 23232543 | Missense_Mutation | G | A | p.R610Q |
| HEC1_ENDOMETRIUM | 23232480 | 23232602 | 23232543 | 23232543 | Missense_Mutation | G | A | p.R610Q |
| HEC1B_ENDOMETRIUM | 23232480 | 23232602 | 23232543 | 23232543 | Missense_Mutation | G | A | p.R610Q |
| MM127_SKIN | 23232480 | 23232602 | 23232545 | 23232545 | Missense_Mutation | G | A | p.E611K |
| NCIH345_LUNG | 23234446 | 23234661 | 23234593 | 23234593 | Missense_Mutation | G | T | p.V762L |
| SW156_KIDNEY | 23234446 | 23234661 | 23234651 | 23234651 | Missense_Mutation | C | T | p.T781I |
| MCC142_SKIN | 23232480 | 23232602 | 23232545 | 23232545 | Nonsense_Mutation | G | T | p.E611* |
| DU145_PROSTATE | 23234446 | 23234661 | 23234473 | 23234473 | Nonsense_Mutation | C | T | p.Q722* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPHB2 |
| 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 EPHB2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPHB2 |
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RelatedDrugs for EPHB2 |
| 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 |
| P29323 | DB12010 | Fostamatinib | Ephrin type-B receptor 2 | small molecule | approved|investigational |
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RelatedDiseases for EPHB2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EPHB2 | C0376358 | Malignant neoplasm of prostate | 3 | UNIPROT |
| EPHB2 | C0014474 | Ependymoma | 1 | CTD_human |
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