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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for EPHA5 |
Gene summary |
Gene information | Gene symbol | EPHA5 | Gene ID | 2044 |
Gene name | EPH receptor A5 | |
Synonyms | CEK7|EHK-1|EHK1|EK7|HEK7|TYRO4 | |
Cytomap | 4q13.1-q13.2 | |
Type of gene | protein-coding | |
Description | ephrin type-A receptor 5EPH homology kinase 1EPH-like kinase 7brain-specific kinaseepididymis secretory sperm binding proteinreceptor protein-tyrosine kinase HEK7tyrosine-protein kinase receptor EHK-1 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 23752245(Rare autosomal copy number variations in early-onset familial Alzheimer's disease) |
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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Gene structures and expression levels for EPHA5 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EPHA5 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_160391 | chr4 | 65367357:65367424:65376998:65377063:65404374:65404476 | 65376998:65377063 |
exon_skip_222412 | chr4 | 65490377:65490712:65495388:65495543:65601641:65602304 | 65495388:65495543 |
exon_skip_260251 | chr4 | 65331984:65332128:65335932:65336125:65348054:65348203 | 65335932:65336125 |
exon_skip_32699 | chr4 | 65420441:65420565:65490377:65490712:65495388:65495543 | 65490377:65490712 |
exon_skip_35193 | chr4 | 65331973:65332128:65335932:65336125:65348054:65348203 | 65335932:65336125 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for EPHA5 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000273854 | 65335932 | 65336125 | Frame-shift |
ENST00000273854 | 65376998 | 65377063 | In-frame |
ENST00000273854 | 65490377 | 65490712 | In-frame |
ENST00000273854 | 65495388 | 65495543 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000273854 | 65335932 | 65336125 | Frame-shift |
ENST00000273854 | 65376998 | 65377063 | In-frame |
ENST00000273854 | 65490377 | 65490712 | In-frame |
ENST00000273854 | 65495388 | 65495543 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000273854 | 65335932 | 65336125 | Frame-shift |
ENST00000273854 | 65376998 | 65377063 | In-frame |
ENST00000273854 | 65490377 | 65490712 | In-frame |
ENST00000273854 | 65495388 | 65495543 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EPHA5 |
p-ENSG00000145242_img4.png |
Loci of skipped exons in ROSMAP 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 |
ENST00000273854 | 8283 | 1037 | 65495388 | 65495543 | 1512 | 1666 | 303 | 355 |
ENST00000273854 | 8283 | 1037 | 65490377 | 65490712 | 1668 | 2002 | 355 | 467 |
ENST00000273854 | 8283 | 1037 | 65376998 | 65377063 | 2392 | 2456 | 597 | 618 |
Loci of skipped exons in MSBB 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 |
ENST00000273854 | 8283 | 1037 | 65495388 | 65495543 | 1512 | 1666 | 303 | 355 |
ENST00000273854 | 8283 | 1037 | 65490377 | 65490712 | 1668 | 2002 | 355 | 467 |
ENST00000273854 | 8283 | 1037 | 65376998 | 65377063 | 2392 | 2456 | 597 | 618 |
Loci of skipped exons in Mayo 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 |
ENST00000273854 | 8283 | 1037 | 65495388 | 65495543 | 1512 | 1666 | 303 | 355 |
ENST00000273854 | 8283 | 1037 | 65490377 | 65490712 | 1668 | 2002 | 355 | 467 |
ENST00000273854 | 8283 | 1037 | 65376998 | 65377063 | 2392 | 2456 | 597 | 618 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
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 |
P54756 | 303 | 355 | 25 | 1037 | Chain | ID=PRO_0000016812;Note=Ephrin type-A receptor 5 |
P54756 | 303 | 355 | 220 | 354 | Compositional bias | Note=Cys-rich |
P54756 | 303 | 355 | 330 | 330 | Natural variant | ID=VAR_042140;Note=E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56205382,PMID:17344846 |
P54756 | 303 | 355 | 25 | 573 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 25 | 1037 | Chain | ID=PRO_0000016812;Note=Ephrin type-A receptor 5 |
P54756 | 355 | 467 | 357 | 467 | Domain | Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
P54756 | 355 | 467 | 369 | 369 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 423 | 423 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 436 | 436 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 461 | 461 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 417 | 417 | Natural variant | ID=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 |
P54756 | 355 | 467 | 25 | 573 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 597 | 618 | 597 | 619 | Alternative sequence | ID=VSP_002999;Note=In isoform 2. SCCECGCGRASSLCAVAHPSLIW->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P54756 | 597 | 618 | 25 | 1037 | Chain | ID=PRO_0000016812;Note=Ephrin type-A receptor 5 |
P54756 | 597 | 618 | 611 | 611 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P54756 | 597 | 618 | 616 | 616 | Sequence conflict | Note=S->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P54756 | 597 | 618 | 595 | 1037 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Lost protein functional features of individual exon skipping events in MSBB. |
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 |
P54756 | 303 | 355 | 25 | 1037 | Chain | ID=PRO_0000016812;Note=Ephrin type-A receptor 5 |
P54756 | 303 | 355 | 220 | 354 | Compositional bias | Note=Cys-rich |
P54756 | 303 | 355 | 330 | 330 | Natural variant | ID=VAR_042140;Note=E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56205382,PMID:17344846 |
P54756 | 303 | 355 | 25 | 573 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 25 | 1037 | Chain | ID=PRO_0000016812;Note=Ephrin type-A receptor 5 |
P54756 | 355 | 467 | 357 | 467 | Domain | Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
P54756 | 355 | 467 | 369 | 369 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 423 | 423 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 436 | 436 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 461 | 461 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 417 | 417 | Natural variant | ID=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 |
P54756 | 355 | 467 | 25 | 573 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 597 | 618 | 597 | 619 | Alternative sequence | ID=VSP_002999;Note=In isoform 2. SCCECGCGRASSLCAVAHPSLIW->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P54756 | 597 | 618 | 25 | 1037 | Chain | ID=PRO_0000016812;Note=Ephrin type-A receptor 5 |
P54756 | 597 | 618 | 611 | 611 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P54756 | 597 | 618 | 616 | 616 | Sequence conflict | Note=S->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P54756 | 597 | 618 | 595 | 1037 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Lost protein functional features of individual exon skipping events in Mayo. |
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 |
P54756 | 303 | 355 | 25 | 1037 | Chain | ID=PRO_0000016812;Note=Ephrin type-A receptor 5 |
P54756 | 303 | 355 | 220 | 354 | Compositional bias | Note=Cys-rich |
P54756 | 303 | 355 | 330 | 330 | Natural variant | ID=VAR_042140;Note=E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs56205382,PMID:17344846 |
P54756 | 303 | 355 | 25 | 573 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 25 | 1037 | Chain | ID=PRO_0000016812;Note=Ephrin type-A receptor 5 |
P54756 | 355 | 467 | 357 | 467 | Domain | Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 |
P54756 | 355 | 467 | 369 | 369 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 423 | 423 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 436 | 436 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 461 | 461 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 355 | 467 | 417 | 417 | Natural variant | ID=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 |
P54756 | 355 | 467 | 25 | 573 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
P54756 | 597 | 618 | 597 | 619 | Alternative sequence | ID=VSP_002999;Note=In isoform 2. SCCECGCGRASSLCAVAHPSLIW->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P54756 | 597 | 618 | 25 | 1037 | Chain | ID=PRO_0000016812;Note=Ephrin type-A receptor 5 |
P54756 | 597 | 618 | 611 | 611 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P54756 | 597 | 618 | 616 | 616 | Sequence conflict | Note=S->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P54756 | 597 | 618 | 595 | 1037 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EPHA5 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for EPHA5 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
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AD stage-associated exon skippint events for EPHA5 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPHA5 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for EPHA5 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
IFG | A1CF | exon_skip_32699 | 4.589888e-01 | 3.165678e-02 |
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RelatedDrugs for EPHA5 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
P54756 | approved|investigational | DB01254 | Dasatinib | small molecule | P54756 |
P54756 | approved|investigational | DB12010 | Fostamatinib | small molecule | P54756 |
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RelatedDiseases for EPHA5 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |