|
Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
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 kinasereceptor protein-tyrosine kinase HEK7tyrosine-protein kinase receptor EHK-1 | |
Modification date | 20180523 | |
UniProtAcc | P54756 | |
Context | PubMed: EPHA5 [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 |
Top |
Exon skipping events across known transcript of Ensembl for EPHA5 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. |
Top |
Gene isoform structures and expression levels for EPHA5 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for EPHA5 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_429763 | 4 | 66233074:66233142:66242715:66242781:66270091:66270194 | 66242715:66242781 | ENSG00000145242.9 | ENST00000511294.1,ENST00000273854.3,ENST00000432638.2 |
exon_skip_429764 | 4 | 66286158:66286283:66356094:66356430:66361105:66361261 | 66356094:66356430 | ENSG00000145242.9 | ENST00000511294.1,ENST00000273854.3,ENST00000354839.4 |
exon_skip_429767 | 4 | 66356094:66356430:66361105:66361261:66467358:66468022 | 66361105:66361261 | ENSG00000145242.9 | ENST00000511294.1,ENST00000273854.3,ENST00000354839.4 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for EPHA5 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_429763 | 4 | 66233074:66233142:66242715:66242781:66270091:66270194 | 66242715:66242781 | ENSG00000145242.9 | ENST00000273854.3,ENST00000432638.2,ENST00000511294.1 |
exon_skip_429764 | 4 | 66286158:66286283:66356094:66356430:66361105:66361261 | 66356094:66356430 | ENSG00000145242.9 | ENST00000273854.3,ENST00000354839.4,ENST00000511294.1 |
exon_skip_429767 | 4 | 66356094:66356430:66361105:66361261:66467358:66468022 | 66361105:66361261 | ENSG00000145242.9 | ENST00000273854.3,ENST00000354839.4,ENST00000511294.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for EPHA5 |
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 |
ENST00000273854 | 66242715 | 66242781 | In-frame |
ENST00000273854 | 66356094 | 66356430 | In-frame |
ENST00000273854 | 66361105 | 66361261 | 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 |
ENST00000273854 | 66242715 | 66242781 | In-frame |
ENST00000273854 | 66356094 | 66356430 | In-frame |
ENST00000273854 | 66361105 | 66361261 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for EPHA5 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000273854 | 8283 | 1037 | 66361105 | 66361261 | 1512 | 1667 | 303 | 355 |
ENST00000273854 | 8283 | 1037 | 66356094 | 66356430 | 1668 | 2003 | 355 | 467 |
ENST00000273854 | 8283 | 1037 | 66242715 | 66242781 | 2392 | 2457 | 597 | 618 |
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 |
ENST00000273854 | 8283 | 1037 | 66361105 | 66361261 | 1512 | 1667 | 303 | 355 |
ENST00000273854 | 8283 | 1037 | 66356094 | 66356430 | 1668 | 2003 | 355 | 467 |
ENST00000273854 | 8283 | 1037 | 66242715 | 66242781 | 2392 | 2457 | 597 | 618 |
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 |
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 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 |
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 |
Top |
SNVs in the skipped exons for EPHA5 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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 |
LUAD | TCGA-64-5781-01 | exon_skip_429764 | 66356095 | 66356430 | 66356246 | 66356246 | Frame_Shift_Del | C | - | p.R417fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_429764 | 66356095 | 66356430 | 66356248 | 66356248 | Frame_Shift_Del | G | - | p.R417fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_429764 | 66356095 | 66356430 | 66356248 | 66356248 | Frame_Shift_Del | G | - | p.R417fs |
STAD | TCGA-HF-7132-01 | exon_skip_429764 | 66356095 | 66356430 | 66356423 | 66356423 | Frame_Shift_Del | G | - | p.S359fs |
STAD | TCGA-BR-7707-01 | exon_skip_429764 | 66356095 | 66356430 | 66356280 | 66356281 | Frame_Shift_Ins | - | CA | p.E406fs |
- 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 |
IGROV1_OVARY | 66361106 | 66361261 | 66361174 | 66361175 | Frame_Shift_Ins | - | A | p.S333fs |
HCC15_LUNG | 66242716 | 66242781 | 66242756 | 66242756 | Missense_Mutation | C | A | p.A606S |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66242716 | 66242781 | 66242772 | 66242772 | Missense_Mutation | T | A | p.E600D |
U178_CENTRAL_NERVOUS_SYSTEM | 66356095 | 66356430 | 66356146 | 66356146 | Missense_Mutation | T | C | p.S451G |
BT20_BREAST | 66356095 | 66356430 | 66356160 | 66356160 | Missense_Mutation | C | A | p.G446V |
NCIH2087_LUNG | 66356095 | 66356430 | 66356247 | 66356247 | Missense_Mutation | C | T | p.R417Q |
SH10TC_STOMACH | 66356095 | 66356430 | 66356283 | 66356283 | Missense_Mutation | C | T | p.C405Y |
NCIH2110_LUNG | 66356095 | 66356430 | 66356290 | 66356290 | Missense_Mutation | C | A | p.G403C |
SNU520_STOMACH | 66356095 | 66356430 | 66356295 | 66356295 | Missense_Mutation | T | C | p.H401R |
SW837_LARGE_INTESTINE | 66356095 | 66356430 | 66356379 | 66356379 | Missense_Mutation | A | G | p.V373A |
HCC2998_LARGE_INTESTINE | 66356095 | 66356430 | 66356383 | 66356383 | Missense_Mutation | T | G | p.S372R |
GMEL_SKIN | 66361106 | 66361261 | 66361151 | 66361151 | Missense_Mutation | C | G | p.D341H |
SCS214_SOFT_TISSUE | 66361106 | 66361261 | 66361166 | 66361166 | Missense_Mutation | A | G | p.C336R |
BT20_BREAST | 66361106 | 66361261 | 66361205 | 66361205 | Missense_Mutation | G | A | p.P323S |
SISO_CERVIX | 66361106 | 66361261 | 66361213 | 66361213 | Missense_Mutation | C | T | p.G320D |
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66361106 | 66361261 | 66361213 | 66361213 | Missense_Mutation | C | T | p.G320D |
NCIH441_LUNG | 66361106 | 66361261 | 66361215 | 66361215 | Nonsense_Mutation | G | T | p.C319* |
GP2D_LARGE_INTESTINE | 66242716 | 66242781 | 66242781 | 66242781 | Splice_Site | A | G | p.S597S |
HRT18_LARGE_INTESTINE | 66361106 | 66361261 | 66361260 | 66361260 | Splice_Site | C | T | p.V304V |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPHA5 |
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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPHA5 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPHA5 |
Top |
RelatedDrugs for EPHA5 |
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 |
P54756 | DB01254 | Dasatinib | Ephrin type-A receptor 5 | small molecule | approved|investigational | |
P54756 | DB12010 | Fostamatinib | Ephrin type-A receptor 5 | small molecule | approved|investigational |
Top |
RelatedDiseases for EPHA5 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |