ExonSkipDB Logo

Home

Download

Statistics

Landscape

Help

Contact

Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in TCGA

leaf

Exon skipping events with PSIs in GTEx

leaf

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

leaf

Exon skipping events in the canonical protein sequence

leaf

SNVs in the skipped exons with depth of coverage

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for MYO3A

check button Gene summary
Gene informationGene symbol

MYO3A

Gene ID

53904

Gene namemyosin IIIA
SynonymsDFNB30
Cytomap

10p12.1

Type of geneprotein-coding
Descriptionmyosin-IIIa
Modification date20180519
UniProtAcc

Q8NEV4

ContextPubMed: MYO3A [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
MYO3A

GO:0046777

protein autophosphorylation

12672820


Top

Exon skipping events across known transcript of Ensembl for MYO3A from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx 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

Top

Gene isoform structures and expression levels for MYO3A

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


Top

Exon skipping events with PSIs in TCGA for MYO3A

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_401651026223202:26223257:26224672:26224759:26241022:2624120726224672:26224759ENSG00000095777.10ENST00000376302.1
exon_skip_401661026224716:26224759:26241022:26241207:26243802:2624393726241022:26241207ENSG00000095777.10ENST00000265944.5,ENST00000376302.1,ENST00000543632.1
exon_skip_401681026243802:26243937:26285418:26285523:26286087:2628618726285418:26285523ENSG00000095777.10ENST00000376301.1,ENST00000265944.5,ENST00000376302.1,ENST00000543632.1
exon_skip_401691026286087:26286187:26305748:26305825:26310431:2631057726305748:26305825ENSG00000095777.10ENST00000265944.5,ENST00000376302.1,ENST00000543632.1
exon_skip_401721026312950:26313016:26315305:26315461:26355903:2635600326315305:26315461ENSG00000095777.10ENST00000265944.5,ENST00000543632.1
exon_skip_401731026385496:26385611:26409604:26409731:26414326:2641453726409604:26409731ENSG00000095777.10ENST00000265944.5
exon_skip_401741026442778:26442858:26443674:26443752:26446238:2644644426443674:26443752ENSG00000095777.10ENST00000265944.5
exon_skip_401811026462591:26463486:26465629:26465774:26482133:2648224026465629:26465774ENSG00000095777.10ENST00000265944.5
exon_skip_401861026465629:26465774:26482133:26482240:26490193:2649023426482133:26482240ENSG00000095777.10ENST00000265944.5
exon_skip_401881026490193:26490234:26491892:26492036:26500771:2650113826491892:26492036ENSG00000095777.10ENST00000265944.5

check button PSI values of skipped exons in TCGA.
psi tcga

Top

Exon skipping events with PSIs in GTEx for MYO3A

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_401651026223202:26223257:26224672:26224759:26241022:2624120726224672:26224759ENSG00000095777.10ENST00000376302.1
exon_skip_401681026243802:26243937:26285418:26285523:26286087:2628618726285418:26285523ENSG00000095777.10ENST00000265944.5,ENST00000376302.1,ENST00000543632.1,ENST00000376301.1
exon_skip_401721026312950:26313016:26315305:26315461:26355903:2635600326315305:26315461ENSG00000095777.10ENST00000265944.5,ENST00000543632.1
exon_skip_401731026385496:26385611:26409604:26409731:26414326:2641453726409604:26409731ENSG00000095777.10ENST00000265944.5
exon_skip_401741026442778:26442858:26443674:26443752:26446238:2644644426443674:26443752ENSG00000095777.10ENST00000265944.5
exon_skip_401811026462591:26463486:26465629:26465774:26482133:2648224026465629:26465774ENSG00000095777.10ENST00000265944.5
exon_skip_401861026465629:26465774:26482133:26482240:26490193:2649023426482133:26482240ENSG00000095777.10ENST00000265944.5
exon_skip_401881026490193:26490234:26491892:26492036:26500771:2650113826491892:26492036ENSG00000095777.10ENST00000265944.5

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for MYO3A

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000026594426241022262412075CDS-5UTR
ENST000002659442630574826305825Frame-shift
ENST000002659442640960426409731Frame-shift
ENST000002659442646562926465774Frame-shift
ENST000002659442648213326482240Frame-shift
ENST000002659442628541826285523In-frame
ENST000002659442631530526315461In-frame
ENST000002659442644367426443752In-frame
ENST000002659442649189226492036In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002659442640960426409731Frame-shift
ENST000002659442646562926465774Frame-shift
ENST000002659442648213326482240Frame-shift
ENST000002659442628541826285523In-frame
ENST000002659442631530526315461In-frame
ENST000002659442644367426443752In-frame
ENST000002659442649189226492036In-frame

Top

Infer the effects of exon skipping event on protein functional features for MYO3A

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000265944559816162628541826285523470574101136
ENST000002659445598161626315305263154619641119266317
ENST0000026594455981616264436742644375228822959905931
ENST000002659445598161626491892264920364753489615291576

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000265944559816162628541826285523470574101136
ENST000002659445598161626315305263154619641119266317
ENST0000026594455981616264436742644375228822959905931
ENST000002659445598161626491892264920364753489615291576

check button Lost protein functional features of individual exon skipping events in TCGA.
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
Q8NEV410113611616ChainID=PRO_0000086413;Note=Myosin-IIIa
Q8NEV410113621287DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q8NEV42663172481616Alternative sequenceID=VSP_056232;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8NEV426631711616ChainID=PRO_0000086413;Note=Myosin-IIIa
Q8NEV426631721287DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q8NEV49059312481616Alternative sequenceID=VSP_056232;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8NEV490593111616ChainID=PRO_0000086413;Note=Myosin-IIIa
Q8NEV49059313381053DomainNote=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782
Q8NEV4152915762481616Alternative sequenceID=VSP_056232;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8NEV41529157611616ChainID=PRO_0000086413;Note=Myosin-IIIa


check button Lost protein functional features of individual exon skipping events in GTEx.
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
Q8NEV410113611616ChainID=PRO_0000086413;Note=Myosin-IIIa
Q8NEV410113621287DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q8NEV42663172481616Alternative sequenceID=VSP_056232;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8NEV426631711616ChainID=PRO_0000086413;Note=Myosin-IIIa
Q8NEV426631721287DomainNote=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159
Q8NEV49059312481616Alternative sequenceID=VSP_056232;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8NEV490593111616ChainID=PRO_0000086413;Note=Myosin-IIIa
Q8NEV49059313381053DomainNote=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782
Q8NEV4152915762481616Alternative sequenceID=VSP_056232;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8NEV41529157611616ChainID=PRO_0000086413;Note=Myosin-IIIa


Top

SNVs in the skipped exons for MYO3A

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

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

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A39Y-01exon_skip_40166
26241023262412072624110126241101Frame_Shift_DelG-p.W21fs
LIHCTCGA-DD-A3A0-01exon_skip_40166
26241023262412072624113626241136Frame_Shift_DelG-p.G33fs
LIHCTCGA-DD-A39Y-01exon_skip_40166
26241023262412072624116326241163Frame_Shift_DelA-p.K42fs
LIHCTCGA-G3-A3CJ-01exon_skip_40166
26241023262412072624116326241163Frame_Shift_DelA-p.K42fs
GBMTCGA-19-5955-01exon_skip_40172
26315306263154612631533026315330Frame_Shift_DelG-p.K274fs
ESCATCGA-L5-A4OE-01exon_skip_40172
26315306263154612631532526315325Nonsense_MutationGTp.E273*
ESCATCGA-L5-A4OE-01exon_skip_40172
26315306263154612631532526315325Nonsense_MutationGTp.E273X
UCECTCGA-BS-A0TC-01exon_skip_40172
26315306263154612631534626315346Nonsense_MutationGTp.E280*
READTCGA-EI-6881-01exon_skip_40173
26409605264097312640972526409725Nonsense_MutationGTp.E633X
HNSCTCGA-QK-A8Z7-01exon_skip_40174
26443675264437522644368426443684Nonsense_MutationGTp.G909*
UCECTCGA-BS-A0UV-01exon_skip_40181
26465630264657742646564826465648Nonsense_MutationGTp.E1438*
UCECTCGA-D1-A103-01exon_skip_40181
26465630264657742646564826465648Nonsense_MutationGTp.E1438*
SKCMTCGA-WE-AAA0-06exon_skip_40181
26465630264657742646565326465653Nonsense_MutationTAp.Y1439*
GBMTCGA-28-2501-01exon_skip_40181
26465630264657742646574726465747Nonsense_MutationCTp.R1471*
STADTCGA-D7-5577-01exon_skip_40186
26482134264822402648217826482178Nonsense_MutationCTp.R1495*
STADTCGA-D7-5577-01exon_skip_40186
26482134264822402648217826482178Nonsense_MutationCTp.R1495X
SKCMTCGA-EE-A2MC-06exon_skip_40188
26491893264920362649191326491913Nonsense_MutationTAp.L1536*
UCECTCGA-D1-A17Q-01exon_skip_40188
26491893264920362649200226492002Nonsense_MutationGTp.E1566*
BLCATCGA-BT-A20V-01exon_skip_40188
26491893264920362649200826492008Nonsense_MutationCTp.Q1568*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
C33A_CERVIX26465630264657742646566626465666Frame_Shift_DelA-p.K1445fs
HCC38_BREAST26241023262412072624110926241114In_Frame_DelACTGAG-p.TE24del
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE26241023262412072624104326241043Missense_MutationTCp.F2L
ACCS_URINARY_TRACT26241023262412072624108226241082Missense_MutationCGp.P15A
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE26241023262412072624110026241100Missense_MutationTCp.W21R
KNS81FD_CENTRAL_NERVOUS_SYSTEM26241023262412072624111626241116Missense_MutationCTp.T26I
NCIH1836_LUNG26241023262412072624112726241127Missense_MutationGAp.G30R
AU565_BREAST26241023262412072624117026241170Missense_MutationGAp.G44D
SKBR3_BREAST26241023262412072624117026241170Missense_MutationGAp.G44D
NCIH2882_LUNG26285419262855232628548326285483Missense_MutationGTp.S123I
NCIH2882_LUNG26305749263058252630577126305771Missense_MutationTGp.S177R
KYSE70_OESOPHAGUS26305749263058252630578126305781Missense_MutationCAp.R181S
SW403_LARGE_INTESTINE26305749263058252630578226305782Missense_MutationGTp.R181L
EN_ENDOMETRIUM26305749263058252630579026305790Missense_MutationAGp.T184A
GEO_LARGE_INTESTINE26315306263154612631533226315332Missense_MutationGAp.R275H
HKA1_SKIN26315306263154612631535626315356Missense_MutationACp.Q283P
SNU478_BILIARY_TRACT26315306263154612631535626315356Missense_MutationACp.Q283P
MKN7_STOMACH26315306263154612631535626315356Missense_MutationACp.Q283P
SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE26315306263154612631538826315388Missense_MutationGTp.D294Y
HEC251_ENDOMETRIUM26409605264097312640963226409632Missense_MutationGAp.A602T
SNU1040_LARGE_INTESTINE26409605264097312640969326409693Missense_MutationAGp.D622G
GP2D_LARGE_INTESTINE26409605264097312640971626409716Missense_MutationAGp.T630A
SUM149PT_BREAST26443675264437522644369726443697Missense_MutationGAp.R913H
NCIH1734_LUNG26443675264437522644369926443699Missense_MutationCAp.H914N
MFE319_ENDOMETRIUM26443675264437522644370326443703Missense_MutationCTp.A915V
HEC6_ENDOMETRIUM26443675264437522644372326443723Missense_MutationAGp.K922E
SNU81_LARGE_INTESTINE26443675264437522644373126443731Missense_MutationACp.Q924H
SKMEL30_SKIN26465630264657742646565726465657Missense_MutationAGp.I1441V
CW2_LARGE_INTESTINE26465630264657742646567226465672Missense_MutationTAp.L1446M
CHAGOK1_LUNG26465630264657742646567826465678Missense_MutationGAp.E1448K
UMC11_LUNG26465630264657742646570826465708Missense_MutationCAp.L1458I
LXF289_LUNG26482134264822402648217726482177Missense_MutationACp.R1494S
LXF289_LUNG26482134264822402648217926482179Missense_MutationGAp.R1495Q
LXF289_LUNG26482134264822402648218426482184Missense_MutationCTp.R1497W
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE26482134264822402648218526482185Missense_MutationGAp.R1497Q
CPCN_LUNG26482134264822402648218526482185Missense_MutationGAp.R1497Q
BEN_LUNG26482134264822402648223226482232Missense_MutationCAp.L1513I
NB1_AUTONOMIC_GANGLIA26491893264920362649190426491904Missense_MutationTCp.L1533S
MEWO_SKIN26491893264920362649193326491933Missense_MutationGAp.E1543K
SNU175_LARGE_INTESTINE26491893264920362649196326491963Missense_MutationGAp.E1553K
C99_LARGE_INTESTINE26491893264920362649197326491973Missense_MutationCGp.P1556R
KMH2_THYROID26491893264920362649199126491991Missense_MutationGTp.R1562I
KP4_PANCREAS26491893264920362649199126491991Missense_MutationGTp.R1562I
HEC251_ENDOMETRIUM26491893264920362649200226492002Nonsense_MutationGTp.E1566*
HEC251_ENDOMETRIUM26443675264437522644375126443751Splice_SiteGTp.R931I

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYO3A

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO3A


Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO3A


Top

RelatedDrugs for MYO3A

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
Q8NEV4DB12010FostamatinibMyosin-IIIasmall moleculeapproved|investigational

Top

RelatedDiseases for MYO3A

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