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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 MYO18A |
 Gene summary |
| Gene information | Gene symbol | MYO18A | Gene ID | 399687 |
| Gene name | myosin XVIIIA | |
| Synonyms | MAJN|MYSPDZ|SP-R210|SPR210 | |
| Cytomap | 17q11.2 | |
| Type of gene | protein-coding | |
| Description | unconventional myosin-XVIIIaSP-A receptor subunit SP-R210 alphaSmolecule associated with JAK3 N-terminusmyosin 18Amyosin containing PDZ domainmyosin containing a PDZ domainsurfactant protein receptor SP-R210 | |
| 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 MYO18A |
| 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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ENSG00000196535
| 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 |
| HCC | UP | ENST00000529578.5 | MYO18A-205:lncRNA:MYO18A | 4.579100e+01 | 1.159848e+00 | 3.778850e-05 | 3.583265e-03 |
| CB | DOWN | ENST00000529578.5 | MYO18A-205:lncRNA:MYO18A | 1.065628e+03 | -1.589991e+00 | 1.280562e-10 | 7.773552e-09 |
| 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 MYO18A |
| 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_103022 | chr17 | 29085604:29085648:29086438:29086577:29086936:29087121 | 29086438:29086577 |
| exon_skip_11272 | chr17 | 29082316:29082438:29085604:29085648:29086438:29086574 | 29085604:29085648 |
| exon_skip_122128 | chr17 | 29082316:29082438:29085604:29085648:29086438:29086457 | 29085604:29085648 |
| exon_skip_123463 | chr17 | 29093323:29093427:29093980:29094090:29094650:29094801 | 29093980:29094090 |
| exon_skip_128365 | chr17 | 29099634:29099762:29103599:29103664:29107080:29107189 | 29103599:29103664 |
| exon_skip_128370 | chr17 | 29090810:29090926:29092343:29092456:29092855:29093001 | 29092343:29092456 |
| exon_skip_142665 | chr17 | 29092855:29093001:29093323:29093427:29093980:29094090 | 29093323:29093427 |
| exon_skip_169105 | chr17 | 29122200:29122253:29137016:29137084:29140340:29140389 | 29137016:29137084 |
| exon_skip_17875 | chr17 | 29107080:29107189:29109858:29110101:29110436:29110622 | 29109858:29110101 |
| exon_skip_220842 | chr17 | 29115664:29115840:29116444:29116455:29118045:29118189 | 29116444:29116455 |
| exon_skip_225771 | chr17 | 29114907:29115099:29115351:29115441:29115664:29115840 | 29115351:29115441 |
| exon_skip_228842 | chr17 | 29114011:29114097:29114907:29115099:29115351:29115441 | 29114907:29115099 |
| exon_skip_256672 | chr17 | 29124653:29124688:29125893:29125967:29127852:29127992 | 29125893:29125967 |
| exon_skip_25985 | chr17 | 29121110:29121211:29121547:29121723:29121851:29121957 | 29121547:29121723 |
| exon_skip_264179 | chr17 | 29122166:29122253:29124653:29124688:29125893:29125967 | 29124653:29124688 |
| exon_skip_270063 | chr17 | 29118377:29118440:29119335:29119435:29120616:29120675 | 29119335:29119435 |
| exon_skip_29944 | chr17 | 29122166:29122253:29124653:29124688:29140340:29140379 | 29124653:29124688 |
| exon_skip_36708 | chr17 | 29116444:29116455:29118045:29118189:29118377:29118435 | 29118045:29118189 |
| exon_skip_48147 | chr17 | 29082316:29082438:29086438:29086577:29086936:29087121 | 29086438:29086577 |
| exon_skip_53593 | chr17 | 29122166:29122253:29137016:29137084:29140340:29140379 | 29137016:29137084 |
| exon_skip_61457 | chr17 | 29116444:29116455:29118045:29118189:29118377:29118440 | 29118045:29118189 |
| exon_skip_62698 | chr17 | 29093323:29093427:29093980:29094090:29094650:29094850 | 29093980:29094090 |
| exon_skip_79238 | chr17 | 29082316:29082438:29085604:29085648:29086438:29086577 | 29085604:29085648 |
| exon_skip_8080 | chr17 | 29082316:29082438:29086438:29086577:29086936:29086959 | 29086438:29086577 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_86292 | MSBB_PG | 1.396899e-01 | 2.478846e-01 | -1.081947e-01 | 1.450589e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for MYO18A |
| 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 |
| ENST00000527372 | 29109858 | 29110101 | Frame-shift |
| ENST00000527372 | 29118045 | 29118189 | Frame-shift |
| ENST00000527372 | 29085604 | 29085648 | In-frame |
| ENST00000527372 | 29092343 | 29092456 | In-frame |
| ENST00000527372 | 29093980 | 29094090 | In-frame |
| ENST00000527372 | 29103599 | 29103664 | In-frame |
| ENST00000527372 | 29116444 | 29116455 | In-frame |
| ENST00000527372 | 29121547 | 29121723 | 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 |
| ENST00000527372 | 29115351 | 29115441 | Frame-shift |
| ENST00000527372 | 29118045 | 29118189 | Frame-shift |
| ENST00000527372 | 29085604 | 29085648 | In-frame |
| ENST00000527372 | 29092343 | 29092456 | In-frame |
| ENST00000527372 | 29093980 | 29094090 | In-frame |
| ENST00000527372 | 29116444 | 29116455 | 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 |
| ENST00000527372 | 29086438 | 29086577 | Frame-shift |
| ENST00000527372 | 29109858 | 29110101 | Frame-shift |
| ENST00000527372 | 29114907 | 29115099 | Frame-shift |
| ENST00000527372 | 29115351 | 29115441 | Frame-shift |
| ENST00000527372 | 29118045 | 29118189 | Frame-shift |
| ENST00000527372 | 29119335 | 29119435 | Frame-shift |
| ENST00000527372 | 29085604 | 29085648 | In-frame |
| ENST00000527372 | 29092343 | 29092456 | In-frame |
| ENST00000527372 | 29093323 | 29093427 | In-frame |
| ENST00000527372 | 29103599 | 29103664 | In-frame |
| ENST00000527372 | 29116444 | 29116455 | In-frame |
| ENST00000527372 | 29121547 | 29121723 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MYO18A |
p-ENSG00000196535_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 |
| ENST00000527372 | 10009 | 2054 | 29121547 | 29121723 | 1376 | 1551 | 398 | 456 |
| ENST00000527372 | 10009 | 2054 | 29103599 | 29103664 | 3623 | 3687 | 1147 | 1168 |
| ENST00000527372 | 10009 | 2054 | 29093980 | 29094090 | 4892 | 5001 | 1570 | 1606 |
| ENST00000527372 | 10009 | 2054 | 29092343 | 29092456 | 5255 | 5367 | 1691 | 1728 |
| ENST00000527372 | 10009 | 2054 | 29085604 | 29085648 | 6034 | 6077 | 1951 | 1965 |
| 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 |
| ENST00000527372 | 10009 | 2054 | 29093980 | 29094090 | 4892 | 5001 | 1570 | 1606 |
| ENST00000527372 | 10009 | 2054 | 29092343 | 29092456 | 5255 | 5367 | 1691 | 1728 |
| ENST00000527372 | 10009 | 2054 | 29085604 | 29085648 | 6034 | 6077 | 1951 | 1965 |
| 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 |
| ENST00000527372 | 10009 | 2054 | 29121547 | 29121723 | 1376 | 1551 | 398 | 456 |
| ENST00000527372 | 10009 | 2054 | 29103599 | 29103664 | 3623 | 3687 | 1147 | 1168 |
| ENST00000527372 | 10009 | 2054 | 29093323 | 29093427 | 5003 | 5106 | 1607 | 1641 |
| ENST00000527372 | 10009 | 2054 | 29092343 | 29092456 | 5255 | 5367 | 1691 | 1728 |
| ENST00000527372 | 10009 | 2054 | 29085604 | 29085648 | 6034 | 6077 | 1951 | 1965 |
| 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 |
| Q92614 | 398 | 456 | 1 | 458 | Alternative sequence | ID=VSP_023058;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15491607;Dbxref=PMID:15491607 |
| Q92614 | 398 | 456 | 1 | 2054 | Chain | ID=PRO_0000123476;Note=Unconventional myosin-XVIIIa |
| Q92614 | 398 | 456 | 349 | 401 | Domain | Note=Myosin N-terminal SH3-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01190 |
| Q92614 | 398 | 456 | 405 | 1185 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q92614 | 398 | 456 | 1 | 398 | Region | Note=Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3 |
| Q92614 | 1147 | 1168 | 1 | 2054 | Chain | ID=PRO_0000123476;Note=Unconventional myosin-XVIIIa |
| Q92614 | 1147 | 1168 | 405 | 1185 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q92614 | 1570 | 1606 | 1571 | 1607 | Alternative sequence | ID=VSP_007871;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q92614 | 1570 | 1606 | 1 | 2054 | Chain | ID=PRO_0000123476;Note=Unconventional myosin-XVIIIa |
| Q92614 | 1570 | 1606 | 1246 | 1971 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92614 | 1691 | 1728 | 1 | 2054 | Chain | ID=PRO_0000123476;Note=Unconventional myosin-XVIIIa |
| Q92614 | 1691 | 1728 | 1246 | 1971 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92614 | 1951 | 1965 | 1952 | 1966 | Alternative sequence | ID=VSP_007872;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15491607,ECO:0000303|PubMed:17974005;Dbxref=PMID:15489334,PMID:15491607,PMID:1797 |
| Q92614 | 1951 | 1965 | 1 | 2054 | Chain | ID=PRO_0000123476;Note=Unconventional myosin-XVIIIa |
| Q92614 | 1951 | 1965 | 1246 | 1971 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q92614 | 1570 | 1606 | 1571 | 1607 | Alternative sequence | ID=VSP_007871;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q92614 | 1570 | 1606 | 1 | 2054 | Chain | ID=PRO_0000123476;Note=Unconventional myosin-XVIIIa |
| Q92614 | 1570 | 1606 | 1246 | 1971 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92614 | 1691 | 1728 | 1 | 2054 | Chain | ID=PRO_0000123476;Note=Unconventional myosin-XVIIIa |
| Q92614 | 1691 | 1728 | 1246 | 1971 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92614 | 1951 | 1965 | 1952 | 1966 | Alternative sequence | ID=VSP_007872;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15491607,ECO:0000303|PubMed:17974005;Dbxref=PMID:15489334,PMID:15491607,PMID:1797 |
| Q92614 | 1951 | 1965 | 1 | 2054 | Chain | ID=PRO_0000123476;Note=Unconventional myosin-XVIIIa |
| Q92614 | 1951 | 1965 | 1246 | 1971 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q92614 | 398 | 456 | 1 | 458 | Alternative sequence | ID=VSP_023058;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15491607;Dbxref=PMID:15491607 |
| Q92614 | 398 | 456 | 1 | 2054 | Chain | ID=PRO_0000123476;Note=Unconventional myosin-XVIIIa |
| Q92614 | 398 | 456 | 349 | 401 | Domain | Note=Myosin N-terminal SH3-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01190 |
| Q92614 | 398 | 456 | 405 | 1185 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q92614 | 398 | 456 | 1 | 398 | Region | Note=Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3 |
| Q92614 | 1147 | 1168 | 1 | 2054 | Chain | ID=PRO_0000123476;Note=Unconventional myosin-XVIIIa |
| Q92614 | 1147 | 1168 | 405 | 1185 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q92614 | 1607 | 1641 | 1571 | 1607 | Alternative sequence | ID=VSP_007871;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q92614 | 1607 | 1641 | 1 | 2054 | Chain | ID=PRO_0000123476;Note=Unconventional myosin-XVIIIa |
| Q92614 | 1607 | 1641 | 1246 | 1971 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92614 | 1607 | 1641 | 1640 | 1640 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 |
| Q92614 | 1691 | 1728 | 1 | 2054 | Chain | ID=PRO_0000123476;Note=Unconventional myosin-XVIIIa |
| Q92614 | 1691 | 1728 | 1246 | 1971 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92614 | 1951 | 1965 | 1952 | 1966 | Alternative sequence | ID=VSP_007872;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:15491607,ECO:0000303|PubMed:17974005;Dbxref=PMID:15489334,PMID:15491607,PMID:1797 |
| Q92614 | 1951 | 1965 | 1 | 2054 | Chain | ID=PRO_0000123476;Note=Unconventional myosin-XVIIIa |
| Q92614 | 1951 | 1965 | 1246 | 1971 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MYO18A |
| 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 MYO18A |
| - 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 MYO18A |
| 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 MYO18A |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for MYO18A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | HNRNPK | exon_skip_86292 | 4.262811e-01 | 2.598858e-08 |
| FL | SAMD4A | exon_skip_86292 | -4.060689e-01 | 3.868423e-09 |
| FL | HNRNPK | exon_skip_86292 | 4.043694e-01 | 4.553212e-09 |
| HCC | RBM3 | exon_skip_79238 | 4.248794e-01 | 2.388474e-13 |
| HCC | SAMD4A | exon_skip_86292 | -6.668160e-01 | 2.382718e-36 |
| HCC | PCBP1 | exon_skip_86292 | -4.600285e-01 | 1.191671e-15 |
| IFG | CNOT4 | exon_skip_79238 | -4.334115e-01 | 2.122196e-02 |
| IFG | KHDRBS2 | exon_skip_79238 | -7.532232e-01 | 3.732784e-06 |
| IFG | KHDRBS3 | exon_skip_79238 | -5.152189e-01 | 5.020149e-03 |
| IFG | NUP42 | exon_skip_79238 | -4.261044e-01 | 2.376277e-02 |
| IFG | SAMD4A | exon_skip_86292 | -4.771524e-01 | 1.024413e-02 |
| PCC | SAMD4A | exon_skip_86292 | -6.161733e-01 | 1.488495e-23 |
| PG | SAMD4A | exon_skip_86292 | -4.187028e-01 | 4.469753e-09 |
| PG | PCBP1 | exon_skip_86292 | 4.982075e-01 | 9.574350e-13 |
| PG | HNRNPK | exon_skip_86292 | 5.403374e-01 | 4.135502e-15 |
| STG | HNRNPK | exon_skip_86292 | 4.035864e-01 | 1.061044e-04 |
| TC | RBM3 | exon_skip_122128 | 4.317420e-01 | 1.196677e-08 |
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RelatedDrugs for MYO18A |
| 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 MYO18A |
| 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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