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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for EPHA5

check button Gene summary
Gene informationGene symbol

EPHA5

Gene ID

2044

Gene nameEPH receptor A5
SynonymsCEK7|EHK-1|EHK1|EK7|HEK7|TYRO4
Cytomap

4q13.1-q13.2

Type of geneprotein-coding
Descriptionephrin type-A receptor 5EPH homology kinase 1EPH-like kinase 7brain-specific kinasereceptor protein-tyrosine kinase HEK7tyrosine-protein kinase receptor EHK-1
Modification date20180523
UniProtAcc

P54756

ContextPubMed: EPHA5 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for EPHA5 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for EPHA5

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for EPHA5

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_429763466233074:66233142:66242715:66242781:66270091:6627019466242715:66242781ENSG00000145242.9ENST00000511294.1,ENST00000273854.3,ENST00000432638.2
exon_skip_429764466286158:66286283:66356094:66356430:66361105:6636126166356094:66356430ENSG00000145242.9ENST00000511294.1,ENST00000273854.3,ENST00000354839.4
exon_skip_429767466356094:66356430:66361105:66361261:66467358:6646802266361105:66361261ENSG00000145242.9ENST00000511294.1,ENST00000273854.3,ENST00000354839.4

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for EPHA5

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_429763466233074:66233142:66242715:66242781:66270091:6627019466242715:66242781ENSG00000145242.9ENST00000273854.3,ENST00000432638.2,ENST00000511294.1
exon_skip_429764466286158:66286283:66356094:66356430:66361105:6636126166356094:66356430ENSG00000145242.9ENST00000273854.3,ENST00000354839.4,ENST00000511294.1
exon_skip_429767466356094:66356430:66361105:66361261:66467358:6646802266361105:66361261ENSG00000145242.9ENST00000273854.3,ENST00000354839.4,ENST00000511294.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for EPHA5

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002738546624271566242781In-frame
ENST000002738546635609466356430In-frame
ENST000002738546636110566361261In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002738546624271566242781In-frame
ENST000002738546635609466356430In-frame
ENST000002738546636110566361261In-frame

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Infer the effects of exon skipping event on protein functional features for EPHA5

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000027385482831037663611056636126115121667303355
ENST0000027385482831037663560946635643016682003355467
ENST0000027385482831037662427156624278123922457597618

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000027385482831037663611056636126115121667303355
ENST0000027385482831037663560946635643016682003355467
ENST0000027385482831037662427156624278123922457597618

check button 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 featureDescription of feature
P54756303355251037ChainID=PRO_0000016812;Note=Ephrin type-A receptor 5
P54756303355220354Compositional biasNote=Cys-rich
P54756303355330330Natural variantID=VAR_042140;Note=E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56205382,PMID:17344846
P5475630335525573Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54756355467251037ChainID=PRO_0000016812;Note=Ephrin type-A receptor 5
P54756355467357467DomainNote=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P54756355467369369GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54756355467423423GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54756355467436436GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54756355467461461GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54756355467417417Natural variantID=VAR_042141;Note=In a lung adenocarcinoma sample%3B somatic mutation. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs199614818,PMID:17344846
P5475635546725573Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54756597618597619Alternative sequenceID=VSP_002999;Note=In isoform 2. SCCECGCGRASSLCAVAHPSLIW->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P54756597618251037ChainID=PRO_0000016812;Note=Ephrin type-A receptor 5
P54756597618611611Sequence conflictNote=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P54756597618616616Sequence conflictNote=S->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P547565976185951037Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


check button 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 featureDescription of feature
P54756303355251037ChainID=PRO_0000016812;Note=Ephrin type-A receptor 5
P54756303355220354Compositional biasNote=Cys-rich
P54756303355330330Natural variantID=VAR_042140;Note=E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56205382,PMID:17344846
P5475630335525573Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54756355467251037ChainID=PRO_0000016812;Note=Ephrin type-A receptor 5
P54756355467357467DomainNote=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316
P54756355467369369GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54756355467423423GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54756355467436436GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54756355467461461GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54756355467417417Natural variantID=VAR_042141;Note=In a lung adenocarcinoma sample%3B somatic mutation. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs199614818,PMID:17344846
P5475635546725573Topological domainNote=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P54756597618597619Alternative sequenceID=VSP_002999;Note=In isoform 2. SCCECGCGRASSLCAVAHPSLIW->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P54756597618251037ChainID=PRO_0000016812;Note=Ephrin type-A receptor 5
P54756597618611611Sequence conflictNote=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P54756597618616616Sequence conflictNote=S->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P547565976185951037Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for EPHA5

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LUADTCGA-64-5781-01exon_skip_429764
66356095663564306635624666356246Frame_Shift_DelC-p.R417fs
LIHCTCGA-DD-A1EG-01exon_skip_429764
66356095663564306635624866356248Frame_Shift_DelG-p.R417fs
LIHCTCGA-G3-A3CJ-01exon_skip_429764
66356095663564306635624866356248Frame_Shift_DelG-p.R417fs
STADTCGA-HF-7132-01exon_skip_429764
66356095663564306635642366356423Frame_Shift_DelG-p.S359fs
STADTCGA-BR-7707-01exon_skip_429764
66356095663564306635628066356281Frame_Shift_Ins-CAp.E406fs

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
IGROV1_OVARY66361106663612616636117466361175Frame_Shift_Ins-Ap.S333fs
HCC15_LUNG66242716662427816624275666242756Missense_MutationCAp.A606S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE66242716662427816624277266242772Missense_MutationTAp.E600D
U178_CENTRAL_NERVOUS_SYSTEM66356095663564306635614666356146Missense_MutationTCp.S451G
BT20_BREAST66356095663564306635616066356160Missense_MutationCAp.G446V
NCIH2087_LUNG66356095663564306635624766356247Missense_MutationCTp.R417Q
SH10TC_STOMACH66356095663564306635628366356283Missense_MutationCTp.C405Y
NCIH2110_LUNG66356095663564306635629066356290Missense_MutationCAp.G403C
SNU520_STOMACH66356095663564306635629566356295Missense_MutationTCp.H401R
SW837_LARGE_INTESTINE66356095663564306635637966356379Missense_MutationAGp.V373A
HCC2998_LARGE_INTESTINE66356095663564306635638366356383Missense_MutationTGp.S372R
GMEL_SKIN66361106663612616636115166361151Missense_MutationCGp.D341H
SCS214_SOFT_TISSUE66361106663612616636116666361166Missense_MutationAGp.C336R
BT20_BREAST66361106663612616636120566361205Missense_MutationGAp.P323S
SISO_CERVIX66361106663612616636121366361213Missense_MutationCTp.G320D
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE66361106663612616636121366361213Missense_MutationCTp.G320D
NCIH441_LUNG66361106663612616636121566361215Nonsense_MutationGTp.C319*
GP2D_LARGE_INTESTINE66242716662427816624278166242781Splice_SiteAGp.S597S
HRT18_LARGE_INTESTINE66361106663612616636126066361260Splice_SiteCTp.V304V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPHA5

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPHA5


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPHA5


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RelatedDrugs for EPHA5

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P54756DB01254DasatinibEphrin type-A receptor 5small moleculeapproved|investigational
P54756DB12010FostamatinibEphrin type-A receptor 5small moleculeapproved|investigational

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RelatedDiseases for EPHA5

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource