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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 23189

FusionGeneSummary for MYO7A_MYO7A

check button Fusion gene summary
Fusion gene informationFusion gene name: MYO7A_MYO7A
Fusion gene ID: 23189
HgeneTgene
Gene symbol

MYO7A

MYO7A

Gene ID

4647

4647

Gene namemyosin VIIAmyosin VIIA
SynonymsDFNA11|DFNB2|MYOVIIA|MYU7A|NSRD2|USH1BDFNA11|DFNB2|MYOVIIA|MYU7A|NSRD2|USH1B
Cytomap

11q13.5

11q13.5

Type of geneprotein-codingprotein-coding
Descriptionunconventional myosin-VIIamyosin VIIA (Usher syndrome 1B (autosomal recessive, severe))unconventional myosin-VIIamyosin VIIA (Usher syndrome 1B (autosomal recessive, severe))
Modification date2018052220180522
UniProtAcc

Q13402

Q13402

Ensembl transtripts involved in fusion geneENST00000409709, ENST00000409893, 
ENST00000458637, ENST00000409619, 
ENST00000605744, 		ENST00000409709, 
ENST00000409893, ENST00000458637, 
ENST00000409619, ENST00000605744, 
Fusion gene scores* DoF score3 X 3 X 3=279 X 7 X 4=252
# samples 39
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(9/252*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYO7A [Title/Abstract] AND MYO7A [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMYO7A

GO:0007040

lysosome organization

16001398

HgeneMYO7A

GO:0030048

actin filament-based movement

21687988

TgeneMYO7A

GO:0007040

lysosome organization

16001398

TgeneMYO7A

GO:0030048

actin filament-based movement

21687988


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BI050206MYO7Achr11

76918377

-MYO7Achr11

76922267

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000409709ENST00000409709MYO7Achr11

76918377

-MYO7Achr11

76922267

+
5CDS-intronENST00000409709ENST00000409893MYO7Achr11

76918377

-MYO7Achr11

76922267

+
5CDS-intronENST00000409709ENST00000458637MYO7Achr11

76918377

-MYO7Achr11

76922267

+
5CDS-intronENST00000409709ENST00000409619MYO7Achr11

76918377

-MYO7Achr11

76922267

+
5CDS-3UTRENST00000409709ENST00000605744MYO7Achr11

76918377

-MYO7Achr11

76922267

+
intron-3CDSENST00000409893ENST00000409709MYO7Achr11

76918377

-MYO7Achr11

76922267

+
intron-intronENST00000409893ENST00000409893MYO7Achr11

76918377

-MYO7Achr11

76922267

+
intron-intronENST00000409893ENST00000458637MYO7Achr11

76918377

-MYO7Achr11

76922267

+
intron-intronENST00000409893ENST00000409619MYO7Achr11

76918377

-MYO7Achr11

76922267

+
intron-3UTRENST00000409893ENST00000605744MYO7Achr11

76918377

-MYO7Achr11

76922267

+
In-frameENST00000458637ENST00000409709MYO7Achr11

76918377

-MYO7Achr11

76922267

+
5CDS-intronENST00000458637ENST00000409893MYO7Achr11

76918377

-MYO7Achr11

76922267

+
5CDS-intronENST00000458637ENST00000458637MYO7Achr11

76918377

-MYO7Achr11

76922267

+
5CDS-intronENST00000458637ENST00000409619MYO7Achr11

76918377

-MYO7Achr11

76922267

+
5CDS-3UTRENST00000458637ENST00000605744MYO7Achr11

76918377

-MYO7Achr11

76922267

+
In-frameENST00000409619ENST00000409709MYO7Achr11

76918377

-MYO7Achr11

76922267

+
5CDS-intronENST00000409619ENST00000409893MYO7Achr11

76918377

-MYO7Achr11

76922267

+
5CDS-intronENST00000409619ENST00000458637MYO7Achr11

76918377

-MYO7Achr11

76922267

+
5CDS-intronENST00000409619ENST00000409619MYO7Achr11

76918377

-MYO7Achr11

76922267

+
5CDS-3UTRENST00000409619ENST00000605744MYO7Achr11

76918377

-MYO7Achr11

76922267

+
3UTR-3CDSENST00000605744ENST00000409709MYO7Achr11

76918377

-MYO7Achr11

76922267

+
3UTR-intronENST00000605744ENST00000409893MYO7Achr11

76918377

-MYO7Achr11

76922267

+
3UTR-intronENST00000605744ENST00000458637MYO7Achr11

76918377

-MYO7Achr11

76922267

+
3UTR-intronENST00000605744ENST00000409619MYO7Achr11

76918377

-MYO7Achr11

76922267

+
3UTR-3UTRENST00000605744ENST00000605744MYO7Achr11

76918377

-MYO7Achr11

76922267

+

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FusionProtFeatures for MYO7A_MYO7A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYO7A

Q13402

MYO7A

Q13402

Myosins are actin-based motor molecules with ATPaseactivity. Unconventional myosins serve in intracellular movements.Their highly divergent tails bind to membranous compartments,which are then moved relative to actin filaments. In the retina,plays an important role in the renewal of the outer photoreceptordisks. Plays an important role in the distribution and migrationof retinal pigment epithelial (RPE) melanosomes and phagosomes,and in the regulation of opsin transport in retinalphotoreceptors. In the inner ear, plays an important role indifferentiation, morphogenesis and organization of cochlear haircell bundles. Involved in hair-cell vesicle trafficking ofaminoglycosides, which are known to induce ototoxicity (Bysimilarity). Motor protein that is a part of the functionalnetwork formed by USH1C, USH1G, CDH23 and MYO7A that mediatesmechanotransduction in cochlear hair cells. Required for normalhearing. {ECO:0000250, ECO:0000269|PubMed:19643958,ECO:0000269|PubMed:21493626, ECO:0000269|PubMed:21687988,ECO:0000269|PubMed:21709241}. Myosins are actin-based motor molecules with ATPaseactivity. Unconventional myosins serve in intracellular movements.Their highly divergent tails bind to membranous compartments,which are then moved relative to actin filaments. In the retina,plays an important role in the renewal of the outer photoreceptordisks. Plays an important role in the distribution and migrationof retinal pigment epithelial (RPE) melanosomes and phagosomes,and in the regulation of opsin transport in retinalphotoreceptors. In the inner ear, plays an important role indifferentiation, morphogenesis and organization of cochlear haircell bundles. Involved in hair-cell vesicle trafficking ofaminoglycosides, which are known to induce ototoxicity (Bysimilarity). Motor protein that is a part of the functionalnetwork formed by USH1C, USH1G, CDH23 and MYO7A that mediatesmechanotransduction in cochlear hair cells. Required for normalhearing. {ECO:0000250, ECO:0000269|PubMed:19643958,ECO:0000269|PubMed:21493626, ECO:0000269|PubMed:21687988,ECO:0000269|PubMed:21709241}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MYO7A_MYO7A


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MYO7A_MYO7A


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for MYO7A_MYO7A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MYO7A_MYO7A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYO7AC1568247Usher Syndrome, Type I13ORPHANET;UNIPROT
HgeneMYO7AC1832475Deafness, Autosomal Dominant 113CTD_human;UNIPROT
HgeneMYO7AC1838701DEAFNESS, AUTOSOMAL RECESSIVE 22CTD_human;UNIPROT
HgeneMYO7AC0025202melanoma1CTD_human
HgeneMYO7AC0271097Usher Syndrome1CTD_human
TgeneMYO7AC1568247Usher Syndrome, Type I13ORPHANET;UNIPROT
TgeneMYO7AC1832475Deafness, Autosomal Dominant 113CTD_human;UNIPROT
TgeneMYO7AC1838701DEAFNESS, AUTOSOMAL RECESSIVE 22CTD_human;UNIPROT
TgeneMYO7AC0025202melanoma1CTD_human
TgeneMYO7AC0271097Usher Syndrome1CTD_human