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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for EML5 |
 Gene summary |
| Gene information | Gene symbol | EML5 | Gene ID | 161436 |
| Gene name | EMAP like 5 | |
| Synonyms | EMAP-2|EMAP-5|FAP16 | |
| Cytomap | 14q31.3 | |
| Type of gene | protein-coding | |
| Description | echinoderm microtubule-associated protein-like 5echinoderm microtubule associated protein like 5 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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 EML5 |
| 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. |
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ENSG00000165521
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000553320.5 | EML5-203:lncRNA:EML5 | 2.014206e+00 | 1.014759e+00 | 4.959767e-05 | 4.084855e-04 |
| 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 EML5 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_102566 | chr14 | 88646947:88646955:88649912:88649926:88657376:88657502 | 88649912:88649926 |
| exon_skip_119543 | chr14 | 88621210:88621301:88622604:88622718:88624970:88625127 | 88622604:88622718 |
| exon_skip_147622 | chr14 | 88687216:88687327:88688271:88688473:88694307:88694405 | 88688271:88688473 |
| exon_skip_147948 | chr14 | 88621210:88621301:88622604:88622718:88624970:88625108 | 88622604:88622718 |
| exon_skip_148079 | chr14 | 88746185:88746283:88754512:88754671:88792307:88792503 | 88754512:88754671 |
| exon_skip_160184 | chr14 | 88665337:88665489:88681890:88682031:88685015:88685142 | 88681890:88682031 |
| exon_skip_177677 | chr14 | 88705482:88705588:88706259:88706426:88712271:88712483 | 88706259:88706426 |
| exon_skip_178138 | chr14 | 88626838:88627046:88627646:88627819:88634469:88634489 | 88627646:88627819 |
| exon_skip_186019 | chr14 | 88740387:88740572:88744023:88744091:88746185:88746283 | 88744023:88744091 |
| exon_skip_208550 | chr14 | 88627748:88627819:88634469:88634489:88638809:88638907 | 88634469:88634489 |
| exon_skip_217620 | chr14 | 88687216:88687327:88688271:88688473:88694307:88694407 | 88688271:88688473 |
| exon_skip_218768 | chr14 | 88661654:88661830:88663031:88663114:88664493:88664624 | 88663031:88663114 |
| exon_skip_218986 | chr14 | 88705482:88705588:88705720:88705873:88706259:88706426 | 88705720:88705873 |
| exon_skip_225511 | chr14 | 88661654:88661830:88663031:88663119:88664493:88664624 | 88663031:88663119 |
| exon_skip_226470 | chr14 | 88687216:88687327:88688271:88688359:88694307:88694407 | 88688271:88688359 |
| exon_skip_256306 | chr14 | 88622604:88622718:88624970:88625127:88626838:88626900 | 88624970:88625127 |
| exon_skip_260784 | chr14 | 88644433:88644511:88646947:88646955:88649912:88649922 | 88646947:88646955 |
| exon_skip_264093 | chr14 | 88702446:88702632:88704860:88704978:88705482:88705588 | 88704860:88704978 |
| exon_skip_269109 | chr14 | 88714939:88715195:88726541:88726678:88736364:88736565 | 88726541:88726678 |
| exon_skip_28850 | chr14 | 88706259:88706426:88712271:88712483:88714939:88715130 | 88712271:88712483 |
| exon_skip_29272 | chr14 | 88712271:88712483:88714939:88715195:88726541:88726678 | 88714939:88715195 |
| exon_skip_29794 | chr14 | 88621210:88621301:88624970:88625127:88626838:88626900 | 88624970:88625127 |
| exon_skip_35292 | chr14 | 88644433:88644511:88646947:88646955:88649912:88649926 | 88646947:88646955 |
| exon_skip_40323 | chr14 | 88615818:88615854:88616142:88616242:88616726:88616879 | 88616142:88616242 |
| exon_skip_46967 | chr14 | 88615818:88615854:88616142:88616242:88616726:88616796 | 88616142:88616242 |
| exon_skip_56891 | chr14 | 88616726:88616879:88618228:88618331:88618650:88618812 | 88618228:88618331 |
| exon_skip_58606 | chr14 | 88687216:88687327:88688271:88688359:88694307:88694405 | 88688271:88688359 |
| exon_skip_75598 | chr14 | 88618650:88618812:88620754:88620926:88621113:88621301 | 88620754:88620926 |
| exon_skip_8767 | chr14 | 88634469:88634489:88638809:88638907:88642893:88643022 | 88638809:88638907 |
| 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 EML5 |
| 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 |
| ENST00000380664 | 88622604 | 88622718 | Frame-shift |
| ENST00000380664 | 88624970 | 88625127 | Frame-shift |
| ENST00000380664 | 88681890 | 88682031 | Frame-shift |
| ENST00000380664 | 88688271 | 88688473 | Frame-shift |
| ENST00000380664 | 88627646 | 88627819 | In-frame |
| ENST00000380664 | 88634469 | 88634489 | In-frame |
| ENST00000380664 | 88706259 | 88706426 | In-frame |
| ENST00000380664 | 88726541 | 88726678 | In-frame |
| ENST00000380664 | 88744023 | 88744091 | 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 |
| ENST00000380664 | 88620754 | 88620926 | Frame-shift |
| ENST00000380664 | 88622604 | 88622718 | Frame-shift |
| ENST00000380664 | 88624970 | 88625127 | Frame-shift |
| ENST00000380664 | 88688271 | 88688473 | Frame-shift |
| ENST00000380664 | 88634469 | 88634489 | In-frame |
| ENST00000380664 | 88706259 | 88706426 | In-frame |
| ENST00000380664 | 88712271 | 88712483 | In-frame |
| ENST00000380664 | 88744023 | 88744091 | 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 |
| ENST00000380664 | 88616142 | 88616242 | Frame-shift |
| ENST00000380664 | 88618228 | 88618331 | Frame-shift |
| ENST00000380664 | 88622604 | 88622718 | Frame-shift |
| ENST00000380664 | 88624970 | 88625127 | Frame-shift |
| ENST00000380664 | 88663031 | 88663119 | Frame-shift |
| ENST00000380664 | 88681890 | 88682031 | Frame-shift |
| ENST00000380664 | 88688271 | 88688473 | Frame-shift |
| ENST00000380664 | 88704860 | 88704978 | Frame-shift |
| ENST00000380664 | 88714939 | 88715195 | Frame-shift |
| ENST00000380664 | 88754512 | 88754671 | Frame-shift |
| ENST00000380664 | 88627646 | 88627819 | In-frame |
| ENST00000380664 | 88634469 | 88634489 | In-frame |
| ENST00000380664 | 88638809 | 88638907 | In-frame |
| ENST00000380664 | 88706259 | 88706426 | In-frame |
| ENST00000380664 | 88712271 | 88712483 | In-frame |
| ENST00000380664 | 88744023 | 88744091 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EML5 |
p-ENSG00000165521_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 |
| ENST00000380664 | 5927 | 1969 | 88744023 | 88744091 | 457 | 524 | 152 | 174 |
| ENST00000380664 | 5927 | 1969 | 88726541 | 88726678 | 1050 | 1186 | 350 | 395 |
| ENST00000380664 | 5927 | 1969 | 88706259 | 88706426 | 1658 | 1824 | 552 | 608 |
| ENST00000380664 | 5927 | 1969 | 88627646 | 88627819 | 4334 | 4506 | 1444 | 1502 |
| 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 |
| ENST00000380664 | 5927 | 1969 | 88744023 | 88744091 | 457 | 524 | 152 | 174 |
| ENST00000380664 | 5927 | 1969 | 88712271 | 88712483 | 1445 | 1656 | 481 | 552 |
| ENST00000380664 | 5927 | 1969 | 88706259 | 88706426 | 1658 | 1824 | 552 | 608 |
| 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 |
| ENST00000380664 | 5927 | 1969 | 88744023 | 88744091 | 457 | 524 | 152 | 174 |
| ENST00000380664 | 5927 | 1969 | 88712271 | 88712483 | 1445 | 1656 | 481 | 552 |
| ENST00000380664 | 5927 | 1969 | 88706259 | 88706426 | 1658 | 1824 | 552 | 608 |
| ENST00000380664 | 5927 | 1969 | 88638809 | 88638907 | 4214 | 4311 | 1404 | 1437 |
| ENST00000380664 | 5927 | 1969 | 88627646 | 88627819 | 4334 | 4506 | 1444 | 1502 |
| 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 |
| Q05BV3 | 152 | 174 | 1 | 1969 | Chain | ID=PRO_0000284395;Note=Echinoderm microtubule-associated protein-like 5 |
| Q05BV3 | 152 | 174 | 148 | 187 | Repeat | Note=WD 3 |
| Q05BV3 | 350 | 395 | 1 | 1969 | Chain | ID=PRO_0000284395;Note=Echinoderm microtubule-associated protein-like 5 |
| Q05BV3 | 350 | 395 | 323 | 362 | Repeat | Note=WD 7 |
| Q05BV3 | 552 | 608 | 1 | 1969 | Chain | ID=PRO_0000284395;Note=Echinoderm microtubule-associated protein-like 5 |
| Q05BV3 | 552 | 608 | 561 | 601 | Repeat | Note=WD 10 |
| Q05BV3 | 1444 | 1502 | 623 | 1969 | Alternative sequence | ID=VSP_041259;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q05BV3 | 1444 | 1502 | 1145 | 1969 | Alternative sequence | ID=VSP_041261;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q05BV3 | 1444 | 1502 | 1 | 1969 | Chain | ID=PRO_0000284395;Note=Echinoderm microtubule-associated protein-like 5 |
| Q05BV3 | 1444 | 1502 | 1412 | 1463 | Repeat | Note=WD 20 |
| Q05BV3 | 1444 | 1502 | 1467 | 1508 | Repeat | Note=WD 21 |
| 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 |
| Q05BV3 | 152 | 174 | 1 | 1969 | Chain | ID=PRO_0000284395;Note=Echinoderm microtubule-associated protein-like 5 |
| Q05BV3 | 152 | 174 | 148 | 187 | Repeat | Note=WD 3 |
| Q05BV3 | 481 | 552 | 1 | 1969 | Chain | ID=PRO_0000284395;Note=Echinoderm microtubule-associated protein-like 5 |
| Q05BV3 | 481 | 552 | 449 | 488 | Repeat | Note=WD 9 |
| Q05BV3 | 552 | 608 | 1 | 1969 | Chain | ID=PRO_0000284395;Note=Echinoderm microtubule-associated protein-like 5 |
| Q05BV3 | 552 | 608 | 561 | 601 | Repeat | Note=WD 10 |
| 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 |
| Q05BV3 | 152 | 174 | 1 | 1969 | Chain | ID=PRO_0000284395;Note=Echinoderm microtubule-associated protein-like 5 |
| Q05BV3 | 152 | 174 | 148 | 187 | Repeat | Note=WD 3 |
| Q05BV3 | 481 | 552 | 1 | 1969 | Chain | ID=PRO_0000284395;Note=Echinoderm microtubule-associated protein-like 5 |
| Q05BV3 | 481 | 552 | 449 | 488 | Repeat | Note=WD 9 |
| Q05BV3 | 552 | 608 | 1 | 1969 | Chain | ID=PRO_0000284395;Note=Echinoderm microtubule-associated protein-like 5 |
| Q05BV3 | 552 | 608 | 561 | 601 | Repeat | Note=WD 10 |
| Q05BV3 | 1404 | 1437 | 623 | 1969 | Alternative sequence | ID=VSP_041259;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q05BV3 | 1404 | 1437 | 1145 | 1969 | Alternative sequence | ID=VSP_041261;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q05BV3 | 1404 | 1437 | 1 | 1969 | Chain | ID=PRO_0000284395;Note=Echinoderm microtubule-associated protein-like 5 |
| Q05BV3 | 1404 | 1437 | 1412 | 1463 | Repeat | Note=WD 20 |
| Q05BV3 | 1444 | 1502 | 623 | 1969 | Alternative sequence | ID=VSP_041259;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q05BV3 | 1444 | 1502 | 1145 | 1969 | Alternative sequence | ID=VSP_041261;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q05BV3 | 1444 | 1502 | 1 | 1969 | Chain | ID=PRO_0000284395;Note=Echinoderm microtubule-associated protein-like 5 |
| Q05BV3 | 1444 | 1502 | 1412 | 1463 | Repeat | Note=WD 20 |
| Q05BV3 | 1444 | 1502 | 1467 | 1508 | Repeat | Note=WD 21 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EML5 |
| 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 EML5 |
| - 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 EML5 |
| 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 EML5 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_260784 | rs11159863 | chr14:88642434 | 4.048574e-09 | 2.865447e-06 |
| CB | exon_skip_260784 | rs7149951 | chr14:88662407 | 4.048574e-09 | 2.865447e-06 |
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Correlation with RNA binding proteins (RBPs) for EML5 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ZNF638 | exon_skip_147948 | -4.113662e-01 | 4.032933e-07 |
| CB | RBM6 | exon_skip_147948 | -4.574822e-01 | 1.176313e-08 |
| CB | TRA2A | exon_skip_147948 | -4.144393e-01 | 3.238014e-07 |
| CB | NUP42 | exon_skip_147948 | 4.878252e-01 | 8.490740e-10 |
| CB | NUP42 | exon_skip_186019 | 5.390728e-01 | 1.076641e-11 |
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RelatedDrugs for EML5 |
| 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 EML5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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