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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 TCGA

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Exon skipping events with PSIs in GTEx

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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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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for MYO18A

check button Gene summary
Gene informationGene symbol

MYO18A

Gene ID

399687

Gene namemyosin XVIIIA
SynonymsMAJN|MYSPDZ|SP-R210|SPR210
Cytomap

17q11.2

Type of geneprotein-coding
Descriptionunconventional 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 date20180519
UniProtAcc

Q92614

ContextPubMed: MYO18A [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

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Exon skipping events across known transcript of Ensembl for MYO18A 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

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Gene isoform structures and expression levels for MYO18A

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

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


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Exon skipping events with PSIs in TCGA for MYO18A

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2878741727409333:27409456:27412621:27412666:27413455:2741359527412621:27412666ENSG00000196535.10ENST00000354329.4,ENST00000527372.1
exon_skip_2878751727409333:27409456:27413455:27413595:27413953:2741413927413455:27413595ENSG00000196535.10ENST00000529578.1,ENST00000530254.2,ENST00000546105.1,ENST00000531253.1,ENST00000533112.1
exon_skip_2878761727419872:27420019:27420340:27420445:27420997:2742110827420340:27420445ENSG00000196535.10ENST00000354329.4,ENST00000530254.2,ENST00000527372.1,ENST00000531253.1
exon_skip_2878781727420340:27420445:27420997:27421108:27421667:2742181927420997:27421108ENSG00000196535.10ENST00000354329.4,ENST00000530254.2,ENST00000527372.1,ENST00000531253.1
exon_skip_2878811727421953:27422077:27423778:27423933:27424240:2742436827423778:27423933ENSG00000196535.10ENST00000354329.4,ENST00000530254.2,ENST00000527372.1,ENST00000531253.1,ENST00000533112.1
exon_skip_2878841727426651:27426780:27430616:27430682:27434097:2743420727430616:27430682ENSG00000196535.10ENST00000532143.2,ENST00000354329.4,ENST00000530254.2,ENST00000527372.1,ENST00000531253.1,ENST00000533112.1
exon_skip_2878861727434097:27434207:27436875:27437119:27437453:2743764027436875:27437119ENSG00000196535.10ENST00000354329.4,ENST00000530254.2,ENST00000527372.1,ENST00000531253.1,ENST00000533112.1
exon_skip_2878881727441924:27442117:27442368:27442459:27442681:2744285827442368:27442459ENSG00000196535.10ENST00000354329.4,ENST00000530254.2,ENST00000527372.1,ENST00000531253.1,ENST00000533112.1
exon_skip_2878901727442681:27442858:27443461:27443473:27445062:2744520727443461:27443473ENSG00000196535.10ENST00000530254.2,ENST00000527372.1,ENST00000531253.1,ENST00000533112.1
exon_skip_2879061727443461:27443473:27445062:27445207:27445394:2744545827445062:27445207ENSG00000196535.10ENST00000530254.2,ENST00000527372.1,ENST00000531253.1,ENST00000533112.1
exon_skip_2879101727446352:27446453:27447633:27447776:27448015:2744822927447633:27447776ENSG00000196535.10ENST00000354329.4,ENST00000530254.2,ENST00000527372.1,ENST00000531253.1,ENST00000533112.1
exon_skip_2879111727448127:27448229:27448564:27448741:27448868:2744897527448564:27448741ENSG00000196535.10ENST00000354329.4,ENST00000590242.1,ENST00000530254.2,ENST00000527372.1,ENST00000531253.1,ENST00000533112.1,ENST00000528564.1
exon_skip_2879201727449183:27449271:27451670:27451706:27452910:2745298527451670:27451706ENSG00000196535.10ENST00000533420.2
exon_skip_2879221727449183:27449271:27451670:27451706:27467357:2746739727451670:27451706ENSG00000196535.10ENST00000528564.1
exon_skip_2879281727449183:27449271:27464033:27464102:27467357:2746739727464033:27464102ENSG00000196535.10ENST00000530254.2
exon_skip_2879301727451670:27451706:27452910:27452985:27454869:2745501027452910:27452985ENSG00000196535.10ENST00000533420.2

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

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Exon skipping events with PSIs in GTEx for MYO18A

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2878741727409333:27409456:27412621:27412666:27413455:2741359527412621:27412666ENSG00000196535.10ENST00000354329.4,ENST00000527372.1
exon_skip_2878751727409333:27409456:27413455:27413595:27413953:2741413927413455:27413595ENSG00000196535.10ENST00000529578.1,ENST00000533112.1,ENST00000531253.1,ENST00000530254.2,ENST00000546105.1
exon_skip_2878761727419872:27420019:27420340:27420445:27420997:2742110827420340:27420445ENSG00000196535.10ENST00000354329.4,ENST00000531253.1,ENST00000527372.1,ENST00000530254.2
exon_skip_2878781727420340:27420445:27420997:27421108:27421667:2742181927420997:27421108ENSG00000196535.10ENST00000354329.4,ENST00000531253.1,ENST00000527372.1,ENST00000530254.2
exon_skip_2878811727421953:27422077:27423778:27423933:27424240:2742436827423778:27423933ENSG00000196535.10ENST00000354329.4,ENST00000533112.1,ENST00000531253.1,ENST00000527372.1,ENST00000530254.2
exon_skip_2878841727426651:27426780:27430616:27430682:27434097:2743420727430616:27430682ENSG00000196535.10ENST00000354329.4,ENST00000533112.1,ENST00000531253.1,ENST00000527372.1,ENST00000530254.2,ENST00000532143.2
exon_skip_2878861727434097:27434207:27436875:27437119:27437453:2743764027436875:27437119ENSG00000196535.10ENST00000354329.4,ENST00000533112.1,ENST00000531253.1,ENST00000527372.1,ENST00000530254.2
exon_skip_2878881727441924:27442117:27442368:27442459:27442681:2744285827442368:27442459ENSG00000196535.10ENST00000354329.4,ENST00000533112.1,ENST00000531253.1,ENST00000527372.1,ENST00000530254.2
exon_skip_2878901727442681:27442858:27443461:27443473:27445062:2744520727443461:27443473ENSG00000196535.10ENST00000533112.1,ENST00000531253.1,ENST00000527372.1,ENST00000530254.2
exon_skip_2878991727442681:27442858:27445048:27445207:27445394:2744545827445048:27445207ENSG00000196535.10ENST00000588791.1
exon_skip_2879061727443461:27443473:27445062:27445207:27445394:2744545827445062:27445207ENSG00000196535.10ENST00000533112.1,ENST00000531253.1,ENST00000527372.1,ENST00000530254.2
exon_skip_2879101727446352:27446453:27447633:27447776:27448015:2744822927447633:27447776ENSG00000196535.10ENST00000354329.4,ENST00000533112.1,ENST00000531253.1,ENST00000527372.1,ENST00000530254.2
exon_skip_2879111727448127:27448229:27448564:27448741:27448868:2744897527448564:27448741ENSG00000196535.10ENST00000354329.4,ENST00000533112.1,ENST00000531253.1,ENST00000527372.1,ENST00000530254.2,ENST00000590242.1,ENST00000528564.1
exon_skip_2879201727449183:27449271:27451670:27451706:27452910:2745298527451670:27451706ENSG00000196535.10ENST00000533420.2
exon_skip_2879221727449183:27449271:27451670:27451706:27467357:2746739727451670:27451706ENSG00000196535.10ENST00000528564.1
exon_skip_2879281727449183:27449271:27464033:27464102:27467357:2746739727464033:27464102ENSG00000196535.10ENST00000530254.2
exon_skip_2879301727451670:27451706:27452910:27452985:27454869:2745501027452910:27452985ENSG00000196535.10ENST00000533420.2

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

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for MYO18A

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
ENST000005273722742377827423933Frame-shift
ENST000005273722743687527437119Frame-shift
ENST000005273722744236827442459Frame-shift
ENST000005273722744506227445207Frame-shift
ENST000005273722744763327447776Frame-shift
ENST000005273722741262127412666In-frame
ENST000005273722742034027420445In-frame
ENST000005273722742099727421108In-frame
ENST000005273722743061627430682In-frame
ENST000005273722744346127443473In-frame
ENST000005273722744856427448741In-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
ENST000005273722742377827423933Frame-shift
ENST000005273722743687527437119Frame-shift
ENST000005273722744236827442459Frame-shift
ENST000005273722744506227445207Frame-shift
ENST000005273722744763327447776Frame-shift
ENST000005273722741262127412666In-frame
ENST000005273722742034027420445In-frame
ENST000005273722742099727421108In-frame
ENST000005273722743061627430682In-frame
ENST000005273722744346127443473In-frame
ENST000005273722744856427448741In-frame

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Infer the effects of exon skipping event on protein functional features for MYO18A

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
ENST0000052737276142054274485642744874113761552398457
ENST000005273727614205427430616274306823623368811471169
ENST000005273727614205427420997274211084892500215701607
ENST000005273727614205427420340274204455003510716071642
ENST000005273727614205427412621274126666034607819511965

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
ENST0000052737276142054274485642744874113761552398457
ENST000005273727614205427430616274306823623368811471169
ENST000005273727614205427420997274211084892500215701607
ENST000005273727614205427420340274204455003510716071642
ENST000005273727614205427412621274126666034607819511965

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
Q926143984571458Alternative sequenceID=VSP_023058;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15491607;Dbxref=PMID:15491607
Q9261439845712054ChainID=PRO_0000123476;Note=Unconventional myosin-XVIIIa
Q92614398457349401DomainNote=Myosin N-terminal SH3-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01190
Q926143984574051185DomainNote=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782
Q926143984571398RegionNote=Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3
Q926141147116912054ChainID=PRO_0000123476;Note=Unconventional myosin-XVIIIa
Q92614114711694051185DomainNote=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782
Q926141570160715711607Alternative sequenceID=VSP_007871;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q926141570160712054ChainID=PRO_0000123476;Note=Unconventional myosin-XVIIIa
Q926141570160712461971Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q926141607164215711607Alternative sequenceID=VSP_007871;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q926141607164212054ChainID=PRO_0000123476;Note=Unconventional myosin-XVIIIa
Q926141607164212461971Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q926141607164216401640Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q926141951196519521966Alternative sequenceID=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
Q926141951196512054ChainID=PRO_0000123476;Note=Unconventional myosin-XVIIIa
Q926141951196512461971Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255


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
Q926143984571458Alternative sequenceID=VSP_023058;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15491607;Dbxref=PMID:15491607
Q9261439845712054ChainID=PRO_0000123476;Note=Unconventional myosin-XVIIIa
Q92614398457349401DomainNote=Myosin N-terminal SH3-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01190
Q926143984574051185DomainNote=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782
Q926143984571398RegionNote=Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3
Q926141147116912054ChainID=PRO_0000123476;Note=Unconventional myosin-XVIIIa
Q92614114711694051185DomainNote=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782
Q926141570160715711607Alternative sequenceID=VSP_007871;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q926141570160712054ChainID=PRO_0000123476;Note=Unconventional myosin-XVIIIa
Q926141570160712461971Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q926141607164215711607Alternative sequenceID=VSP_007871;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q926141607164212054ChainID=PRO_0000123476;Note=Unconventional myosin-XVIIIa
Q926141607164212461971Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q926141607164216401640Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q926141951196519521966Alternative sequenceID=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
Q926141951196512054ChainID=PRO_0000123476;Note=Unconventional myosin-XVIIIa
Q926141951196512461971Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255


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SNVs in the skipped exons for MYO18A

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_287876
27420341274204452742044027420440Frame_Shift_DelT-p.K1609fs
LIHCTCGA-DD-A3A0-01exon_skip_287881
27423779274239332742382127423821Frame_Shift_DelC-p.G1448fs
LIHCTCGA-G3-A3CJ-01exon_skip_287886
27436876274371192743689527436895Frame_Shift_DelG-p.A1104fs
LIHCTCGA-DD-A1EG-01exon_skip_287906
27445063274452072744513327445133Frame_Shift_DelG-p.P656fs
LIHCTCGA-DD-A3A0-01exon_skip_287906
27445063274452072744517527445175Frame_Shift_DelA-p.F642fs
LIHCTCGA-DD-A39Y-01exon_skip_287911
27448565274487412744859427448594Frame_Shift_DelG-p.R448fs
STADTCGA-FP-A9TM-01exon_skip_287911
27448565274487412744866227448662Frame_Shift_DelA-p.L425fs
PCPGTCGA-WB-A80M-01exon_skip_287881
27423779274239332742392627423927Frame_Shift_Ins-Cp.P1413fs
COADTCGA-AZ-6607-01exon_skip_287881
27423779274239332742386427423864Nonsense_MutationGAp.R1434X

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
BICR18_UPPER_AERODIGESTIVE_TRACT27448565274487412744866327448664Frame_Shift_DelAG-p.L425fs
BICR18_UPPER_AERODIGESTIVE_TRACT27448565274487412744866727448668Frame_Shift_Ins-TAp.H423fs
BICR18_UPPER_AERODIGESTIVE_TRACT27412622274126662741263427412634Missense_MutationCTp.R1962K
HS766T_PANCREAS27420341274204452742040427420404Missense_MutationGTp.D1621E
SNU1040_LARGE_INTESTINE27420998274211082742101127421011Missense_MutationGAp.S1603L
BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27420998274211082742104627421046Missense_MutationCGp.E1591D
COLO679_SKIN27420998274211082742105427421054Missense_MutationCTp.E1589K
KM12_LARGE_INTESTINE27420998274211082742108227421082Missense_MutationCTp.M1579I
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27423779274239332742382927423829Missense_MutationGTp.H1445Q
HEC59_ENDOMETRIUM27430617274306822743063327430633Missense_MutationCTp.C1164Y
CL34_LARGE_INTESTINE27436876274371192743689027436890Missense_MutationCTp.R1106H
TGBC24TKB_BILIARY_TRACT27436876274371192743689027436890Missense_MutationCTp.R1106H
HCC202_BREAST27436876274371192743691127436911Missense_MutationGAp.S1099F
NCIH720_LUNG27436876274371192743691727436917Missense_MutationCTp.R1097H
LNZ308_CENTRAL_NERVOUS_SYSTEM27436876274371192743691727436917Missense_MutationCTp.R1097H
NUGC3_STOMACH27436876274371192743691827436918Missense_MutationGAp.R1097C
SNUC5_LARGE_INTESTINE27436876274371192743701027437010Missense_MutationACp.V1066G
CORL303_LUNG27436876274371192743702027437020Missense_MutationAGp.S1063P
MHHES1_BONE27436876274371192743702027437020Missense_MutationAGp.S1063P
HTCC3_THYROID27436876274371192743702327437023Missense_MutationAGp.S1062P
NCIH1385_LUNG27436876274371192743702627437026Missense_MutationCGp.A1061P
HCC2998_LARGE_INTESTINE27436876274371192743711627437116Missense_MutationCTp.A1031T
SW982_SOFT_TISSUE27447634274477762744768027447680Missense_MutationGAp.S561F
HEC108_ENDOMETRIUM27447634274477762744768427447684Missense_MutationGTp.L560I
BICR18_UPPER_AERODIGESTIVE_TRACT27447634274477762744770727447707Missense_MutationTCp.N552S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27447634274477762744770727447707Missense_MutationTCp.N552S
BICR18_UPPER_AERODIGESTIVE_TRACT27447634274477762744771527447715Missense_MutationACp.I549M
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27447634274477762744771527447715Missense_MutationACp.I549M
BICR18_UPPER_AERODIGESTIVE_TRACT27447634274477762744775527447755Missense_MutationTGp.Y536S
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27448565274487412744862927448629Missense_MutationGCp.T436R
SNU324_PANCREAS27448565274487412744862927448629Missense_MutationGAp.T436M
KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE27448565274487412744864527448645Missense_MutationCTp.A431T
MERO83_LUNG27448565274487412744872027448720Missense_MutationGAp.R406C
NBSUSSR_AUTONOMIC_GANGLIA27420341274204452742041827420418Nonsense_MutationCAp.E1617*
LNCAPCLONEFGC_PROSTATE27445063274452072744516527445165Nonsense_MutationGAp.Q646*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYO18A

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

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO18A


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO18A


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RelatedDrugs for MYO18A

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

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RelatedDiseases for MYO18A

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