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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 MYO1G

check button Gene summary
Gene informationGene symbol

MYO1G

Gene ID

64005

Gene namemyosin IG
SynonymsHA2|HLA-HA2|MHAG
Cytomap

7p13

Type of geneprotein-coding
Descriptionunconventional myosin-Igminor histocompatibility antigen HA-2myosin-Ig
Modification date20180519
UniProtAcc

B0I1T2

ContextPubMed: MYO1G [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 MYO1G 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 MYO1G

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 MYO1G

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_475320745002264:45002494:45002568:45002723:45003647:4500376145002568:45002723ENSG00000136286.10ENST00000488554.1,ENST00000495831.1,ENST00000258787.7,ENST00000483585.1
exon_skip_475323745003647:45003761:45004013:45004118:45004543:4500468845004013:45004118ENSG00000136286.10ENST00000488554.1,ENST00000495831.1,ENST00000258787.7,ENST00000463516.1,ENST00000483585.1
exon_skip_475327745004013:45004118:45004543:45004688:45005235:4500545945004543:45004688ENSG00000136286.10ENST00000488554.1,ENST00000495831.1,ENST00000258787.7,ENST00000463516.1,ENST00000483585.1
exon_skip_475330745005235:45005459:45005671:45005879:45006270:4500643745005671:45005879ENSG00000136286.10ENST00000488554.1,ENST00000495831.1,ENST00000258787.7
exon_skip_475336745007482:45007557:45008518:45009082:45009303:4500947445008518:45009082ENSG00000136286.10ENST00000463516.1
exon_skip_475337745007482:45007557:45009011:45009082:45009303:4500947445009011:45009082ENSG00000136286.10ENST00000488554.1,ENST00000495831.1,ENST00000258787.7,ENST00000483585.1
exon_skip_475340745009638:45009753:45010190:45010336:45010433:4501065845010190:45010336ENSG00000136286.10ENST00000488554.1,ENST00000495831.1,ENST00000258787.7,ENST00000464434.1,ENST00000480503.1,ENST00000463516.1,ENST00000483585.1
exon_skip_475342745010190:45010336:45010433:45010658:45011271:4501138845010433:45010658ENSG00000136286.10ENST00000488554.1,ENST00000495831.1,ENST00000258787.7,ENST00000464434.1,ENST00000480503.1,ENST00000463516.1,ENST00000483585.1
exon_skip_475343745011713:45011824:45014772:45014826:45015082:4501524845014772:45014826ENSG00000136286.10ENST00000495831.1,ENST00000258787.7
exon_skip_475346745016162:45016256:45016461:45016670:45018465:4501859945016461:45016670ENSG00000136286.10ENST00000258787.7,ENST00000464434.1,ENST00000480503.1,ENST00000483585.1

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

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Exon skipping events with PSIs in GTEx for MYO1G

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_475320745002264:45002494:45002568:45002723:45003647:4500376145002568:45002723ENSG00000136286.10ENST00000495831.1,ENST00000483585.1,ENST00000488554.1,ENST00000258787.7
exon_skip_475323745003647:45003761:45004013:45004118:45004543:4500468845004013:45004118ENSG00000136286.10ENST00000495831.1,ENST00000483585.1,ENST00000488554.1,ENST00000463516.1,ENST00000258787.7
exon_skip_475327745004013:45004118:45004543:45004688:45005235:4500545945004543:45004688ENSG00000136286.10ENST00000495831.1,ENST00000483585.1,ENST00000488554.1,ENST00000463516.1,ENST00000258787.7
exon_skip_475330745005235:45005459:45005671:45005879:45006270:4500643745005671:45005879ENSG00000136286.10ENST00000495831.1,ENST00000488554.1,ENST00000258787.7
exon_skip_475336745007482:45007557:45008518:45009082:45009303:4500947445008518:45009082ENSG00000136286.10ENST00000463516.1
exon_skip_475337745007482:45007557:45009011:45009082:45009303:4500947445009011:45009082ENSG00000136286.10ENST00000495831.1,ENST00000483585.1,ENST00000488554.1,ENST00000258787.7
exon_skip_475340745009638:45009753:45010190:45010336:45010433:4501065845010190:45010336ENSG00000136286.10ENST00000495831.1,ENST00000483585.1,ENST00000488554.1,ENST00000463516.1,ENST00000258787.7,ENST00000480503.1,ENST00000464434.1
exon_skip_475342745010190:45010336:45010433:45010658:45011271:4501138845010433:45010658ENSG00000136286.10ENST00000495831.1,ENST00000483585.1,ENST00000488554.1,ENST00000463516.1,ENST00000258787.7,ENST00000480503.1,ENST00000464434.1
exon_skip_475343745011713:45011824:45014772:45014826:45015082:4501524845014772:45014826ENSG00000136286.10ENST00000495831.1,ENST00000258787.7
exon_skip_475346745016162:45016256:45016461:45016670:45018465:4501859945016461:45016670ENSG00000136286.10ENST00000483585.1,ENST00000258787.7,ENST00000480503.1,ENST00000464434.1

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 MYO1G

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
ENST000002587874500256845002723Frame-shift
ENST000002587874500454345004688Frame-shift
ENST000002587874500567145005879Frame-shift
ENST000002587874500901145009082Frame-shift
ENST000002587874501019045010336Frame-shift
ENST000002587874501646145016670Frame-shift
ENST000002587874500401345004118In-frame
ENST000002587874501043345010658In-frame
ENST000002587874501477245014826In-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
ENST000002587874500256845002723Frame-shift
ENST000002587874500454345004688Frame-shift
ENST000002587874500567145005879Frame-shift
ENST000002587874500901145009082Frame-shift
ENST000002587874501019045010336Frame-shift
ENST000002587874501646145016670Frame-shift
ENST000002587874500401345004118In-frame
ENST000002587874501043345010658In-frame
ENST000002587874501477245014826In-frame

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Infer the effects of exon skipping event on protein functional features for MYO1G

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
ENST00000258787328410184501477245014826702755188206
ENST000002587873284101845010433450106589841208282357
ENST0000025878732841018450040134500411826642768842877

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
ENST00000258787328410184501477245014826702755188206
ENST000002587873284101845010433450106589841208282357
ENST0000025878732841018450040134500411826642768842877

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
B0I1T218820611018ChainID=PRO_0000340316;Note=Unconventional myosin-Ig
B0I1T21882069707DomainNote=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782
B0I1T22823572311018Alternative sequenceID=VSP_034209;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1
B0I1T228235711018ChainID=PRO_0000340316;Note=Unconventional myosin-Ig
B0I1T22823579707DomainNote=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782
B0I1T28428772311018Alternative sequenceID=VSP_034209;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1
B0I1T28428775261018Alternative sequenceID=VSP_034210;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1
B0I1T28428777231018Alternative sequenceID=VSP_034212;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11544309;Dbxref=PMID:11544309
B0I1T284287711018ChainID=PRO_0000340316;Note=Unconventional myosin-Ig
B0I1T28428778241017DomainNote=TH1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01093
B0I1T2842877876876MutagenesisNote=No effect on membrane localization. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20071333;Dbxref=PMID:20071333
B0I1T2842877861861Natural variantID=VAR_044015;Note=Q->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.2;Dbxref=dbSNP:rs7792760,PMID:15489334


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
B0I1T218820611018ChainID=PRO_0000340316;Note=Unconventional myosin-Ig
B0I1T21882069707DomainNote=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782
B0I1T22823572311018Alternative sequenceID=VSP_034209;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1
B0I1T228235711018ChainID=PRO_0000340316;Note=Unconventional myosin-Ig
B0I1T22823579707DomainNote=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782
B0I1T28428772311018Alternative sequenceID=VSP_034209;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1
B0I1T28428775261018Alternative sequenceID=VSP_034210;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1
B0I1T28428777231018Alternative sequenceID=VSP_034212;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11544309;Dbxref=PMID:11544309
B0I1T284287711018ChainID=PRO_0000340316;Note=Unconventional myosin-Ig
B0I1T28428778241017DomainNote=TH1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01093
B0I1T2842877876876MutagenesisNote=No effect on membrane localization. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20071333;Dbxref=PMID:20071333
B0I1T2842877861861Natural variantID=VAR_044015;Note=Q->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.2;Dbxref=dbSNP:rs7792760,PMID:15489334


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SNVs in the skipped exons for MYO1G

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-A1EG-01exon_skip_475327
45004544450046884500460945004609Frame_Shift_DelC-p.A821fs
BRCATCGA-AN-A0XU-01exon_skip_475336
45008519450090824500901245009012Frame_Shift_DelG-p.T525fs
BRCATCGA-AN-A0XU-01exon_skip_475337
45009012450090824500901245009012Frame_Shift_DelG-p.T525fs
LIHCTCGA-DD-A39Y-01exon_skip_475336
45008519450090824500901945009019Frame_Shift_DelC-p.D523fs
LIHCTCGA-DD-A39Y-01exon_skip_475337
45009012450090824500901945009019Frame_Shift_DelC-p.D523fs
LIHCTCGA-DD-A1EG-01exon_skip_475340
45010191450103364501027245010272Frame_Shift_DelC-p.G379fs
STADTCGA-BR-A4QL-01exon_skip_475340
45010191450103364501027645010276Frame_Shift_DelG-p.R378fs
LIHCTCGA-DD-A39Y-01exon_skip_475346
45016462450166704501661345016613Frame_Shift_DelG-p.P51fs
UCECTCGA-BS-A0UL-01exon_skip_475330
45005672450058794500571345005713Nonsense_MutationGAp.R706*
LUADTCGA-86-7713-01exon_skip_475342
45010434450106584501048445010484Nonsense_MutationTAp.K341*
UCECTCGA-BS-A0UV-01exon_skip_475343
45014773450148264501479545014795Nonsense_MutationCAp.E202*
READTCGA-BM-6198-01exon_skip_475346
45016462450166704501646145016461Splice_SiteCT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
MYO1G_45007482_45007557_45008518_45009082_45009303_45009474_TCGA-AN-A0XU-01Sample: TCGA-AN-A0XU-01
Cancer type: BRCA
ESID: exon_skip_475337
Skipped exon start: 45009012
Skipped exon end: 45009082
Mutation start: 45009012
Mutation end: 45009012
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.T525fs
MYO1G_45007482_45007557_45008518_45009082_45009303_45009474_TCGA-AN-A0XU-01Sample: TCGA-AN-A0XU-01
Cancer type: BRCA
ESID: exon_skip_475336
Skipped exon start: 45008519
Skipped exon end: 45009082
Mutation start: 45009012
Mutation end: 45009012
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.T525fs
exon_skip_475336_BRCA_TCGA-AN-A0XU-01.png
boxplot
exon_skip_5861_BRCA_TCGA-AN-A0XU-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE45016462450166704501656345016563Frame_Shift_DelC-p.G68fs
GMEL_SKIN45004014450041184500405145004052Missense_MutationCCTTp.G865N
SNU216_STOMACH45004014450041184500405645004056Missense_MutationTAp.K863N
HCT15_LARGE_INTESTINE45004014450041184500411445004114Missense_MutationGTp.T844N
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE45004544450046884500456145004561Missense_MutationGCp.R837G
EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE45004544450046884500456145004561Missense_MutationGCp.R837G
NCIH748_LUNG45004544450046884500462945004629Missense_MutationGAp.A814V
451LU_SKIN45004544450046884500464345004643Missense_MutationCTp.M809I
KNS62_LUNG45005672450058794500567645005676Missense_MutationTCp.Q718R
MFE319_ENDOMETRIUM45005672450058794500573345005733Missense_MutationAGp.L699P
LN405_CENTRAL_NERVOUS_SYSTEM45005672450058794500575345005753Missense_MutationGTp.F692L
SW13_ADRENAL_CORTEX45005672450058794500578545005785Missense_MutationCTp.G682R
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE45009012450090824500904045009040Missense_MutationGAp.R516W
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE45008519450090824500904045009040Missense_MutationGAp.R516W
NCC021_KIDNEY45010191450103364501020745010207Missense_MutationCTp.V401M
PEO1_OVARY45010434450106584501045645010456Missense_MutationTAp.Y350F
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE45010434450106584501045945010459Missense_MutationCGp.S349T
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE45010434450106584501049845010498Missense_MutationCTp.R336K
SNU81_LARGE_INTESTINE45010434450106584501051945010519Missense_MutationCTp.R329H
NCIH446_LUNG45010434450106584501053445010534Missense_MutationCGp.R324P
TE1_OESOPHAGUS45010434450106584501054945010549Missense_MutationCTp.R319Q
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE45010434450106584501062445010624Missense_MutationCTp.G294E
JHUEM2_ENDOMETRIUM45014773450148264501478445014784Missense_MutationCTp.A203T
RL952_ENDOMETRIUM45016462450166704501654845016548Missense_MutationTAp.E73V
HCT15_LARGE_INTESTINE45016462450166704501660645016606Missense_MutationCTp.E54K
SMSCTR_SOFT_TISSUE45016462450166704501660845016608Missense_MutationTCp.Q53R
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE45016462450166704501663945016639Missense_MutationCTp.G43S
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE45004014450041184500406445004064Nonsense_MutationGAp.Q861*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYO1G

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 MYO1G


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO1G


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RelatedDrugs for MYO1G

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 MYO1G

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