|
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 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 | 20200313 | |
UniProtAcc | ||
Context | - 19668339(Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for 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 |
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 |
Top |
Gene structures and expression levels for EFNA5 |
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. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EFNA5 |
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_282189 | chr5 | 107381238:107381376:107387235:107387315:107387706:107387771 | 107387235:107387315 |
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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for EFNA5 |
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 |
ENST00000333274 | 107387235 | 107387315 | 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 |
ENST00000333274 | 107387235 | 107387315 | 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 |
ENST00000333274 | 107387235 | 107387315 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for EFNA5 |
p-ENSG00000184349_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 |
ENST00000333274 | 5352 | 228 | 107387235 | 107387315 | 767 | 846 | 161 | 188 |
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 |
ENST00000333274 | 5352 | 228 | 107387235 | 107387315 | 767 | 846 | 161 | 188 |
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 |
ENST00000333274 | 5352 | 228 | 107387235 | 107387315 | 767 | 846 | 161 | 188 |
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 |
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 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 |
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 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 |
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 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in EFNA5 |
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 |
Top |
SNVs in the skipped exons for EFNA5 |
- 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 |
Top |
AD stage-associated exon skippint events for EFNA5 |
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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EFNA5 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
PCC | exon_skip_282189 | rs17533525 | chr5:107443991 | 2.515546e-04 | 3.584757e-02 |
PCC | exon_skip_282189 | rs3797517 | chr5:107403258 | 3.844706e-04 | 4.942532e-02 |
PCC | exon_skip_282189 | rs11956440 | chr5:107426474 | 3.844706e-04 | 4.942532e-02 |
Top |
Correlation with RNA binding proteins (RBPs) for EFNA5 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for EFNA5 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for EFNA5 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |