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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 EFNA1 |
Gene summary |
Gene information | Gene symbol | EFNA1 | Gene ID | 1942 |
Gene name | ephrin A1 | |
Synonyms | B61|ECKLG|EFL1|EPLG1|GMAN|LERK-1|LERK1|TNFAIP4 | |
Cytomap | 1q22 | |
Type of gene | protein-coding | |
Description | ephrin-A1TNF alpha-induced protein 4eph-related receptor tyrosine kinase ligand 1epididymis secretory sperm binding proteingastric cancer metastasis associated long noncoding RNAimmediate early response protein B61ligand of eph-related kinase 1tumo | |
Modification date | 20200313 | |
UniProtAcc | A8K0M4, P20827, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
EFNA1 | GO:0016477 | cell migration | 10655584 |
EFNA1 | GO:0033628 | regulation of cell adhesion mediated by integrin | 10655584 |
EFNA1 | GO:0034446 | substrate adhesion-dependent cell spreading | 10655584 |
EFNA1 | GO:0048013 | ephrin receptor signaling pathway | 10655584 |
EFNA1 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 10655584 |
EFNA1 | GO:1902004 | positive regulation of amyloid-beta formation | 24217950 |
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Gene structures and expression levels for EFNA1 |
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 |
TC | DOWN | ENST00000368406.2 | EFNA1-201:protein_coding:EFNA1 | 1.488555e+02 | -9.099708e-01 | 2.453476e-04 | 3.282566e-03 |
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 EFNA1 |
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_27788 | chr1 | 155131339:155131634:155133503:155133568:155133730:155133780 | 155133503:155133568 |
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 EFNA1 |
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 |
ENST00000368407 | 155133503 | 155133568 | 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 |
ENST00000368407 | 155133503 | 155133568 | 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 |
ENST00000368407 | 155133503 | 155133568 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EFNA1 |
p-ENSG00000169242_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 |
ENST00000368407 | 1943 | 205 | 155133503 | 155133568 | 908 | 972 | 130 | 151 |
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 |
ENST00000368407 | 1943 | 205 | 155133503 | 155133568 | 908 | 972 | 130 | 151 |
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 |
ENST00000368407 | 1943 | 205 | 155133503 | 155133568 | 908 | 972 | 130 | 151 |
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 |
P20827 | 130 | 151 | 131 | 152 | Alternative sequence | ID=VSP_017543;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P20827 | 130 | 151 | 125 | 134 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HEI |
P20827 | 130 | 151 | 142 | 147 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HEI |
P20827 | 130 | 151 | 19 | 182 | Chain | ID=PRO_0000008353;Note=Ephrin-A1 |
P20827 | 130 | 151 | 80 | 140 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:3HEI,ECO:0000269|PubMed:19525919,ECO:0000269|PubMed:20505120;Dbxref=PMID:19525919,PMID:20505120 |
P20827 | 130 | 151 | 19 | 151 | Domain | Note=Ephrin RBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00884 |
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 |
P20827 | 130 | 151 | 131 | 152 | Alternative sequence | ID=VSP_017543;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P20827 | 130 | 151 | 125 | 134 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HEI |
P20827 | 130 | 151 | 142 | 147 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HEI |
P20827 | 130 | 151 | 19 | 182 | Chain | ID=PRO_0000008353;Note=Ephrin-A1 |
P20827 | 130 | 151 | 80 | 140 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:3HEI,ECO:0000269|PubMed:19525919,ECO:0000269|PubMed:20505120;Dbxref=PMID:19525919,PMID:20505120 |
P20827 | 130 | 151 | 19 | 151 | Domain | Note=Ephrin RBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00884 |
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 |
P20827 | 130 | 151 | 131 | 152 | Alternative sequence | ID=VSP_017543;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
P20827 | 130 | 151 | 125 | 134 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HEI |
P20827 | 130 | 151 | 142 | 147 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HEI |
P20827 | 130 | 151 | 19 | 182 | Chain | ID=PRO_0000008353;Note=Ephrin-A1 |
P20827 | 130 | 151 | 80 | 140 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:3HEI,ECO:0000269|PubMed:19525919,ECO:0000269|PubMed:20505120;Dbxref=PMID:19525919,PMID:20505120 |
P20827 | 130 | 151 | 19 | 151 | Domain | Note=Ephrin RBD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00884 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EFNA1 |
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 EFNA1 |
- 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 EFNA1 |
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 EFNA1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
CB | exon_skip_27788 | rs4971079 | chr1:155157915 | 1.249936e-09 | 1.010593e-06 |
CB | exon_skip_27788 | rs11264339 | chr1:155168172 | 4.225900e-09 | 2.950304e-06 |
CB | exon_skip_27788 | rs4745 | chr1:155133751 | 7.159879e-09 | 4.628889e-06 |
CB | exon_skip_27788 | rs4276913 | chr1:155159197 | 1.836465e-07 | 8.229306e-05 |
CB | exon_skip_27788 | rs10908456 | chr1:155113672 | 2.798210e-05 | 6.100026e-03 |
CB | exon_skip_27788 | rs10908455 | chr1:155094807 | 9.024868e-05 | 1.596520e-02 |
TC | exon_skip_27788 | rs4745 | chr1:155133751 | 3.421033e-12 | 4.880499e-09 |
TC | exon_skip_27788 | rs4971079 | chr1:155157915 | 9.363686e-10 | 7.268479e-07 |
TC | exon_skip_27788 | rs11264339 | chr1:155168172 | 9.977142e-10 | 7.655307e-07 |
TC | exon_skip_27788 | rs4276913 | chr1:155159197 | 1.942062e-09 | 1.351381e-06 |
TC | exon_skip_27788 | rs10908456 | chr1:155113672 | 5.687043e-06 | 1.539391e-03 |
TC | exon_skip_27788 | rs10908455 | chr1:155094807 | 1.705445e-04 | 2.486385e-02 |
HCC | exon_skip_27788 | rs4971079 | chr1:155157915 | 3.734549e-23 | 7.386441e-20 |
HCC | exon_skip_27788 | rs11264339 | chr1:155168172 | 1.327825e-20 | 1.921156e-17 |
HCC | exon_skip_27788 | rs7368345 | chr1:155107614 | 6.602780e-18 | 6.915975e-15 |
HCC | exon_skip_27788 | rs6693477 | chr1:155109464 | 6.602780e-18 | 6.915975e-15 |
HCC | exon_skip_27788 | rs10157801 | chr1:155147536 | 6.546796e-17 | 5.923003e-14 |
HCC | exon_skip_27788 | rs4276913 | chr1:155159197 | 6.596575e-15 | 4.525579e-12 |
HCC | exon_skip_27788 | rs10908456 | chr1:155113672 | 1.960417e-14 | 1.246085e-11 |
HCC | exon_skip_27788 | rs10908454 | chr1:155093940 | 7.543798e-11 | 2.733995e-08 |
HCC | exon_skip_27788 | rs10908455 | chr1:155094807 | 4.859270e-10 | 1.539068e-07 |
HCC | exon_skip_27788 | rs2990245 | chr1:155227671 | 3.329427e-08 | 7.382294e-06 |
PCC | exon_skip_27788 | rs10157801 | chr1:155147536 | 2.289740e-10 | 2.062820e-07 |
PCC | exon_skip_27788 | rs4971079 | chr1:155157915 | 5.233646e-10 | 4.264859e-07 |
PCC | exon_skip_27788 | rs11264339 | chr1:155168172 | 2.821142e-08 | 1.519323e-05 |
PCC | exon_skip_27788 | rs4276913 | chr1:155159197 | 4.597972e-08 | 2.357254e-05 |
PCC | exon_skip_27788 | rs7368345 | chr1:155107614 | 4.771532e-08 | 2.431630e-05 |
PCC | exon_skip_27788 | rs6693477 | chr1:155109464 | 4.771532e-08 | 2.431630e-05 |
PCC | exon_skip_27788 | rs10908456 | chr1:155113672 | 5.863503e-08 | 2.939845e-05 |
PCC | exon_skip_27788 | rs10908454 | chr1:155093940 | 3.757867e-07 | 1.473118e-04 |
PCC | exon_skip_27788 | rs10908455 | chr1:155094807 | 4.100495e-07 | 1.583793e-04 |
PCC | exon_skip_27788 | rs2990245 | chr1:155227671 | 1.708221e-04 | 2.629643e-02 |
DLPFC | exon_skip_27788 | rs4971079 | chr1:155157915 | 5.217579e-15 | 3.228000e-12 |
DLPFC | exon_skip_27788 | rs11264339 | chr1:155168172 | 1.093620e-14 | 6.432450e-12 |
DLPFC | exon_skip_27788 | rs7368345 | chr1:155107614 | 4.007651e-12 | 1.636797e-09 |
DLPFC | exon_skip_27788 | rs6693477 | chr1:155109464 | 4.007651e-12 | 1.636797e-09 |
DLPFC | exon_skip_27788 | rs4276913 | chr1:155159197 | 1.736382e-10 | 5.441848e-08 |
DLPFC | exon_skip_27788 | rs10157801 | chr1:155147536 | 4.494185e-10 | 1.319371e-07 |
DLPFC | exon_skip_27788 | rs10908456 | chr1:155113672 | 1.657666e-08 | 3.706848e-06 |
DLPFC | exon_skip_27788 | rs2990245 | chr1:155227671 | 2.987389e-08 | 6.324745e-06 |
DLPFC | exon_skip_27788 | rs10908455 | chr1:155094807 | 8.260042e-08 | 1.584136e-05 |
DLPFC | exon_skip_27788 | rs10908454 | chr1:155093940 | 9.816845e-07 | 1.451182e-04 |
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Correlation with RNA binding proteins (RBPs) for EFNA1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for EFNA1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for EFNA1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |