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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for MYO5A

check button Gene summary
Gene informationGene symbol

MYO5A

Gene ID

4644

Gene namemyosin VA
SynonymsGS1|MYH12|MYO5|MYR12
Cytomap

15q21.2

Type of geneprotein-coding
Descriptionunconventional myosin-Vadilute myosin heavy chain, non-musclemyosin Vmyosin VA (heavy chain 12, myoxin)myosin, heavy polypeptide kinasemyosin-12myosin-Vamyoxin
Modification date20200313
UniProtAcc

A0A087WY00,

E7ERV5,

F8W6H6,

F8WE88,

G3V394,

G3V3C9,

O95317,

Q9UES5,

Q9Y4I1,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Gene structures and expression levels for MYO5A

check buttonSkipped 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.
all structure

ENSG00000197535
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
IFGUPENST00000358212.10MYO5A-202:protein_coding:MYO5A1.030482e+012.160957e+018.122361e-136.682335e-09
CBUPENST00000556196.5MYO5A-210:nonsense_mediated_decay:MYO5A1.306782e+001.362741e+002.799696e-031.218584e-02
CBUPENST00000399229.6MYO5A-204:protein_coding:MYO5A1.028992e+002.615046e+004.111549e-031.674464e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MYO5A

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_131991chr1552353605:52353658:52353871:52354014:52359968:5236008152353871:52354014
exon_skip_166339chr1552340196:52340394:52343117:52343197:52346361:5234646152343117:52343197
exon_skip_177218chr1552405287:52405393:52407292:52407399:52408059:5240813652407292:52407399
exon_skip_204044chr1552391930:52392070:52396316:52396397:52397201:5239746652396316:52396397
exon_skip_23989chr1552405287:52405393:52407292:52407399:52408059:5240814052407292:52407399
exon_skip_265623chr1552425830:52425974:52428398:52428569:52433175:5243328552428398:52428569
exon_skip_276093chr1552340288:52340394:52343117:52343197:52346361:5234646152343117:52343197
exon_skip_281456chr1552336463:52336556:52337810:52337884:52340196:5234039452337810:52337884
exon_skip_28723chr1552416145:52416301:52425830:52425974:52428398:5242856952425830:52425974
exon_skip_290986chr1552327852:52328006:52330353:52330499:52336463:5233655652330353:52330499
exon_skip_32701chr1552346361:52346461:52348818:52348826:52351254:5235148152348818:52348826
exon_skip_40510chr1552336463:52336556:52337810:52337884:52340196:5234026352337810:52337884
exon_skip_46217chr1552410333:52410476:52416145:52416301:52425830:5242596752416145:52416301
exon_skip_77497chr1552407292:52407399:52408059:52408140:52410333:5241047652408059:52408140
exon_skip_92679chr1552346361:52346461:52348818:52348826:52351254:5235138252348818:52348826
exon_skip_9849chr1552353871:52354014:52359968:52360081:52364554:5236470252359968:52360081

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for MYO5A

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003992315240805952408140Frame-shift
ENST000003992315241614552416301Frame-shift
ENST000003992315242583052425974Frame-shift
ENST000003992315242839852428569Frame-shift
ENST000003992315233035352330499In-frame
ENST000003992315234311752343197In-frame
ENST000003992315234881852348826In-frame
ENST000003992315235387152354014In-frame
ENST000003992315235996852360081In-frame
ENST000003992315240729252407399In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003992315239631652396397Frame-shift
ENST000003992315240805952408140Frame-shift
ENST000003992315242583052425974Frame-shift
ENST000003992315242839852428569Frame-shift
ENST000003992315233035352330499In-frame
ENST000003992315234311752343197In-frame
ENST000003992315234881852348826In-frame
ENST000003992315240729252407399In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003992315239631652396397Frame-shift
ENST000003992315240805952408140Frame-shift
ENST000003992315241614552416301Frame-shift
ENST000003992315242583052425974Frame-shift
ENST000003992315242839852428569Frame-shift
ENST000003992315233035352330499In-frame
ENST000003992315234311752343197In-frame
ENST000003992315234881852348826In-frame
ENST000003992315235387152354014In-frame
ENST000003992315240729252407399In-frame

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Infer the effects of exon skipping event on protein functional features for MYO5A

p-ENSG00000197535_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000399231122421855524072925240739910831189279315
ENST0000039923112242185552359968523600813554366611031140
ENST0000039923112242185552353871523540143668381011411188
ENST0000039923112242185552343117523431974204428313201346
ENST0000039923112242185552330353523304994578472314441493

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000399231122421855524072925240739910831189279315
ENST0000039923112242185552343117523431974204428313201346
ENST0000039923112242185552330353523304994578472314441493

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000399231122421855524072925240739910831189279315
ENST0000039923112242185552353871523540143668381011411188
ENST0000039923112242185552343117523431974204428313201346
ENST0000039923112242185552330353523304994578472314441493

check button 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 featureDescription of feature
Q9Y4I127931521855ChainID=PRO_0000123456;Note=Unconventional myosin-Va
Q9Y4I127931569763DomainNote=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782
Q9Y4I11103114021855ChainID=PRO_0000123456;Note=Unconventional myosin-Va
Q9Y4I1110311409141237Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y4I11141118821855ChainID=PRO_0000123456;Note=Unconventional myosin-Va
Q9Y4I1114111889141237Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y4I11141118811771177Sequence conflictNote=D->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y4I11320134613211347Alternative sequenceID=VSP_003351;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:7835087,ECO:0000303|PubMed:8188282,ECO:0000303|Ref.1;Dbxref=PMID:7835087,PMID:8188282
Q9Y4I11320134621855ChainID=PRO_0000123456;Note=Unconventional myosin-Va
Q9Y4I11320134613381445Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y4I11444149314751478Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LX2
Q9Y4I11444149321855ChainID=PRO_0000123456;Note=Unconventional myosin-Va
Q9Y4I11444149313381445Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y4I11444149314811483HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LX2
Q9Y4I11444149314841491HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LX2
Q9Y4I11444149314521452Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231
Q9Y4I11444149314651477Sequence conflictNote=NIPRKEKDFQGML->SVLCACCVSVTVR;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y4I11444149314711471Sequence conflictNote=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y4I11444149314841484Sequence conflictNote=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y4I11444149314921494TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LX2

check button 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 featureDescription of feature
Q9Y4I127931521855ChainID=PRO_0000123456;Note=Unconventional myosin-Va
Q9Y4I127931569763DomainNote=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782
Q9Y4I11320134613211347Alternative sequenceID=VSP_003351;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:7835087,ECO:0000303|PubMed:8188282,ECO:0000303|Ref.1;Dbxref=PMID:7835087,PMID:8188282
Q9Y4I11320134621855ChainID=PRO_0000123456;Note=Unconventional myosin-Va
Q9Y4I11320134613381445Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y4I11444149314751478Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LX2
Q9Y4I11444149321855ChainID=PRO_0000123456;Note=Unconventional myosin-Va
Q9Y4I11444149313381445Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y4I11444149314811483HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LX2
Q9Y4I11444149314841491HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LX2
Q9Y4I11444149314521452Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231
Q9Y4I11444149314651477Sequence conflictNote=NIPRKEKDFQGML->SVLCACCVSVTVR;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y4I11444149314711471Sequence conflictNote=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y4I11444149314841484Sequence conflictNote=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y4I11444149314921494TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LX2

check button 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 featureDescription of feature
Q9Y4I127931521855ChainID=PRO_0000123456;Note=Unconventional myosin-Va
Q9Y4I127931569763DomainNote=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782
Q9Y4I11141118821855ChainID=PRO_0000123456;Note=Unconventional myosin-Va
Q9Y4I1114111889141237Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y4I11141118811771177Sequence conflictNote=D->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y4I11320134613211347Alternative sequenceID=VSP_003351;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:7835087,ECO:0000303|PubMed:8188282,ECO:0000303|Ref.1;Dbxref=PMID:7835087,PMID:8188282
Q9Y4I11320134621855ChainID=PRO_0000123456;Note=Unconventional myosin-Va
Q9Y4I11320134613381445Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y4I11444149314751478Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LX2
Q9Y4I11444149321855ChainID=PRO_0000123456;Note=Unconventional myosin-Va
Q9Y4I11444149313381445Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q9Y4I11444149314811483HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LX2
Q9Y4I11444149314841491HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LX2
Q9Y4I11444149314521452Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231
Q9Y4I11444149314651477Sequence conflictNote=NIPRKEKDFQGML->SVLCACCVSVTVR;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y4I11444149314711471Sequence conflictNote=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y4I11444149314841484Sequence conflictNote=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9Y4I11444149314921494TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LX2


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3'-UTR located exon skipping events that lost miRNA binding sites in MYO5A

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for MYO5A

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for MYO5A

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end
ADstageMSBBIFGexon_skip_1663395.387651e-013.096550e-03chr15-523401965234039452343117523431975234636152346461
CDRMSBBIFGexon_skip_1663394.622599e-011.326291e-02chr15-523401965234039452343117523431975234636152346461

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYO5A

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
PCCexon_skip_281456rs1405184chr15:523891808.528515e-062.211068e-03
PCCexon_skip_281456rs3794565chr15:523631699.333501e-062.390721e-03
PCCexon_skip_281456rs871488chr15:524176803.570650e-044.676387e-02

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Correlation with RNA binding proteins (RBPs) for MYO5A

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBTRA2Aexon_skip_77497-6.343237e-011.735121e-18
CBRBM4exon_skip_77497-6.031488e-011.986080e-16
PCCRBMS3exon_skip_2814564.375240e-016.698197e-11
PCCSRSF11exon_skip_2814564.025569e-012.617262e-09
PCCRBM47exon_skip_2814564.415811e-014.257796e-11
PGG3BP2exon_skip_166339-5.082548e-012.858192e-14
TCELAVL1exon_skip_281456-4.318548e-011.317922e-08
TCRALYLexon_skip_281456-8.122544e-011.372883e-38
TCNOVA1exon_skip_281456-5.771380e-011.682979e-15
TCG3BP2exon_skip_166339-6.196112e-013.981633e-18
TCNUP42exon_skip_166339-5.514829e-015.944265e-14
TCNOVA1exon_skip_166339-4.575325e-011.505923e-09

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RelatedDrugs for MYO5A

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MYO5A

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource