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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 EFNA5 |
 Gene summary |
| Gene information | Gene symbol | EFNA5 | Gene ID | 1946 |
| Gene name | ephrin A5 | |
| Synonyms | AF1|EFL5|EPLG7|GLC1M|LERK7|RAGS | |
| Cytomap | 5q21.3 | |
| Type of gene | protein-coding | |
| Description | ephrin-A5AL-1LERK-7eph-related receptor tyrosine kinase ligand 7 | |
| Modification date | 20180523 | |
| UniProtAcc | P52803 | |
| Context | PubMed: EFNA5 [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 |
| EFNA5 | GO:0006915 | apoptotic process | 11870224 |
| EFNA5 | GO:0022407 | regulation of cell-cell adhesion | 11870224 |
| EFNA5 | GO:0022604 | regulation of cell morphogenesis | 23242526 |
| EFNA5 | GO:0032956 | regulation of actin cytoskeleton organization | 11870224 |
| EFNA5 | GO:0043087 | regulation of GTPase activity | 11870224 |
| EFNA5 | GO:0048013 | ephrin receptor signaling pathway | 11870224 |
| EFNA5 | GO:0051893 | regulation of focal adhesion assembly | 11870224 |
| EFNA5 | GO:0070507 | regulation of microtubule cytoskeleton organization | 11870224 |
| EFNA5 | GO:1900025 | negative regulation of substrate adhesion-dependent cell spreading | 23242526 |
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Exon skipping events across known transcript of Ensembl for EFNA5 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 EFNA5 |
| 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 EFNA5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443408 | 5 | 106716938:106717077:106722935:106723016:106723406:106723472 | 106722935:106723016 | ENSG00000184349.8 | ENST00000333274.6,ENST00000510359.1 |
| exon_skip_443409 | 5 | 106716938:106717077:106723406:106723472:106762917:106763210 | 106723406:106723472 | ENSG00000184349.8 | ENST00000509503.1 |
| exon_skip_443410 | 5 | 106723406:106723472:106762917:106763210:107006189:107006328 | 106762917:106763210 | ENSG00000184349.8 | ENST00000509503.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EFNA5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443408 | 5 | 106716938:106717077:106722935:106723016:106723406:106723472 | 106722935:106723016 | ENSG00000184349.8 | ENST00000333274.6,ENST00000510359.1 |
| exon_skip_443409 | 5 | 106716938:106717077:106723406:106723472:106762917:106763210 | 106723406:106723472 | ENSG00000184349.8 | ENST00000509503.1 |
| 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 EFNA5 |
| 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 |
| ENST00000333274 | 106722935 | 106723016 | 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 |
| ENST00000333274 | 106722935 | 106723016 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EFNA5 |
| 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 |
| ENST00000333274 | 5352 | 228 | 106722935 | 106723016 | 767 | 847 | 161 | 188 |
| 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 |
| ENST00000333274 | 5352 | 228 | 106722935 | 106723016 | 767 | 847 | 161 | 188 |
| 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 |
| P52803 | 161 | 188 | 21 | 203 | Chain | ID=PRO_0000008377;Note=Ephrin-A5 |
| P52803 | 161 | 188 | 29 | 162 | Domain | Note=Ephrin RBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00884 |
| P52803 | 161 | 188 | 161 | 164 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4L0P |
| 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 |
| P52803 | 161 | 188 | 21 | 203 | Chain | ID=PRO_0000008377;Note=Ephrin-A5 |
| P52803 | 161 | 188 | 29 | 162 | Domain | Note=Ephrin RBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00884 |
| P52803 | 161 | 188 | 161 | 164 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4L0P |
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SNVs in the skipped exons for EFNA5 |
| - 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 |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_443408 | 106722936 | 106723016 | 106722953 | 106722953 | Frame_Shift_Del | T | - | p.N183fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_443408 | 106722936 | 106723016 | 106722953 | 106722953 | Frame_Shift_Del | T | - | p.N183fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_443409 | 106723407 | 106723472 | 106723420 | 106723420 | Frame_Shift_Del | A | - | p.F157fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_443410 | 106762918 | 106763210 | 106762963 | 106762963 | Frame_Shift_Del | A | - | p.S125fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_443410 | 106762918 | 106763210 | 106762985 | 106762985 | Frame_Shift_Del | T | - | p.K117fs |
| GBM | TCGA-06-0216-01 | exon_skip_443410 | 106762918 | 106763210 | 106762936 | 106762936 | Nonsense_Mutation | G | A | p.R134* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_443410 | 106762918 | 106763210 | 106763211 | 106763211 | Splice_Site | C | A | . |
| - 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 |
| HEPG2_LIVER | 106762918 | 106763210 | 106763034 | 106763035 | Frame_Shift_Ins | - | C | p.E101fs |
| PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 106723407 | 106723472 | 106723454 | 106723454 | Missense_Mutation | T | C | p.N146S |
| SEKI_SKIN | 106762918 | 106763210 | 106762935 | 106762935 | Missense_Mutation | C | T | p.R134Q |
| RKO_LARGE_INTESTINE | 106762918 | 106763210 | 106763089 | 106763089 | Missense_Mutation | T | C | p.N83D |
| NCIH2291_LUNG | 106762918 | 106763210 | 106763191 | 106763191 | Missense_Mutation | G | A | p.H49Y |
| NCIH1048_LUNG | 106762918 | 106763210 | 106763202 | 106763202 | Missense_Mutation | C | A | p.R45M |
| TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 106762918 | 106763210 | 106763030 | 106763030 | Nonsense_Mutation | A | T | p.C102* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EFNA5 |
| 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 EFNA5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EFNA5 |
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RelatedDrugs for EFNA5 |
| 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 |
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RelatedDiseases for EFNA5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EFNA5 | C0035126 | Reperfusion Injury | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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