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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:MYO5A-OIP5

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MYO5A-OIP5
FusionPDB ID: 56711
FusionGDB2.0 ID: 56711
HgeneTgene
Gene symbol

MYO5A

OIP5

Gene ID

4644

11339

Gene namemyosin VAOpa interacting protein 5
SynonymsGS1|MYH12|MYO5|MYR125730547N13Rik|CT86|LINT-25|MIS18B|MIS18beta|hMIS18beta
Cytomap

15q21.2

15q15.1

Type of geneprotein-codingprotein-coding
Descriptionunconventional myosin-Vadilute myosin heavy chain, non-musclemyosin Vmyosin VA (heavy chain 12, myoxin)myosin, heavy polypeptide kinasemyosin-12myosin-Vamyoxinprotein Mis18-betaLAP2alpha interactor-25MIS18 kinetochore protein homolog Bcancer/testis antigen 86opa-interacting protein 5
Modification date2020031320200313
UniProtAcc

Q9Y4I1

.
Ensembl transtripts involved in fusion geneENST idsENST00000356338, ENST00000358212, 
ENST00000399231, ENST00000399233, 
ENST00000553916, 		ENST00000220514, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 13 X 6=10144 X 3 X 3=36
# samples 124
** MAII scorelog2(12/1014*10)=-3.07895134139482
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: MYO5A [Title/Abstract] AND OIP5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MYO5A(52689398)-OIP5(41611978), # samples:3
Anticipated loss of major functional domain due to fusion event.MYO5A-OIP5 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MYO5A-OIP5 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MYO5A-OIP5 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
MYO5A-OIP5 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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

check buttonFusion gene breakpoints across MYO5A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across OIP5 (3'-gene)
* 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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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-JL-A3YX-01AMYO5Achr15

52689398

-OIP5chr15

41611978

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000399231MYO5Achr1552689398-ENST00000220514OIP5chr1541611978-235015632441863539
ENST00000356338MYO5Achr1552689398-ENST00000220514OIP5chr1541611978-21801393741693539
ENST00000358212MYO5Achr1552689398-ENST00000220514OIP5chr1541611978-2106131901619539
ENST00000399233MYO5Achr1552689398-ENST00000220514OIP5chr1541611978-235015632441863539
ENST00000553916MYO5Achr1552689398-ENST00000220514OIP5chr1541611978-21411354351654539

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000399231ENST00000220514MYO5Achr1552689398-OIP5chr1541611978-0.0008732190.99912685
ENST00000356338ENST00000220514MYO5Achr1552689398-OIP5chr1541611978-0.0006936820.9993063
ENST00000358212ENST00000220514MYO5Achr1552689398-OIP5chr1541611978-0.0007803170.99921966
ENST00000399233ENST00000220514MYO5Achr1552689398-OIP5chr1541611978-0.0008732190.99912685
ENST00000553916ENST00000220514MYO5Achr1552689398-OIP5chr1541611978-0.0007154360.99928457

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>56711_56711_1_MYO5A-OIP5_MYO5A_chr15_52689398_ENST00000356338_OIP5_chr15_41611978_ENST00000220514_length(amino acids)=539AA_BP=440
MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELPHLRNPDILVGENDLTALSYLHEPAVLHNLR
VRFIDSKLIYTYCGIVLVAINPYEQLPIYGEDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYF
ATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMRTYLLEKSRVVFQAEEERNYHIFYQLCASAK
LPEFKMLRLGNADNFNYTKQGGSPVIEGVDDAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIF
CELMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVNQALHSAVKQHSFIGVLDIYGTYNLLFCGSC

--------------------------------------------------------------

>56711_56711_2_MYO5A-OIP5_MYO5A_chr15_52689398_ENST00000358212_OIP5_chr15_41611978_ENST00000220514_length(amino acids)=539AA_BP=440
MKSSSLETMFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELPHLRNPDILVGENDLTALSYLHEPAVLHNLR
VRFIDSKLIYTYCGIVLVAINPYEQLPIYGEDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYF
ATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMRTYLLEKSRVVFQAEEERNYHIFYQLCASAK
LPEFKMLRLGNADNFNYTKQGGSPVIEGVDDAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIF
CELMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVNQALHSAVKQHSFIGVLDIYGTYNLLFCGSC

--------------------------------------------------------------

>56711_56711_3_MYO5A-OIP5_MYO5A_chr15_52689398_ENST00000399231_OIP5_chr15_41611978_ENST00000220514_length(amino acids)=539AA_BP=440
MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELPHLRNPDILVGENDLTALSYLHEPAVLHNLR
VRFIDSKLIYTYCGIVLVAINPYEQLPIYGEDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYF
ATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMRTYLLEKSRVVFQAEEERNYHIFYQLCASAK
LPEFKMLRLGNADNFNYTKQGGSPVIEGVDDAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIF
CELMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVNQALHSAVKQHSFIGVLDIYGTYNLLFCGSC

--------------------------------------------------------------

>56711_56711_4_MYO5A-OIP5_MYO5A_chr15_52689398_ENST00000399233_OIP5_chr15_41611978_ENST00000220514_length(amino acids)=539AA_BP=440
MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELPHLRNPDILVGENDLTALSYLHEPAVLHNLR
VRFIDSKLIYTYCGIVLVAINPYEQLPIYGEDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYF
ATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMRTYLLEKSRVVFQAEEERNYHIFYQLCASAK
LPEFKMLRLGNADNFNYTKQGGSPVIEGVDDAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIF
CELMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVNQALHSAVKQHSFIGVLDIYGTYNLLFCGSC

--------------------------------------------------------------

>56711_56711_5_MYO5A-OIP5_MYO5A_chr15_52689398_ENST00000553916_OIP5_chr15_41611978_ENST00000220514_length(amino acids)=539AA_BP=440
MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELPHLRNPDILVGENDLTALSYLHEPAVLHNLR
VRFIDSKLIYTYCGIVLVAINPYEQLPIYGEDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYF
ATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMRTYLLEKSRVVFQAEEERNYHIFYQLCASAK
LPEFKMLRLGNADNFNYTKQGGSPVIEGVDDAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIF
CELMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVNQALHSAVKQHSFIGVLDIYGTYNLLFCGSC

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr15:52689398/chr15:41611978)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYO5A

Q9Y4I1

.
FUNCTION: Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation. {ECO:0000269|PubMed:10448864}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMYO5Achr15:52689398chr15:41611978ENST00000356338-10408_60439.66666666666671829.0DomainMyosin N-terminal SH3-like
HgeneMYO5Achr15:52689398chr15:41611978ENST00000399231-10418_60439.66666666666671856.0DomainMyosin N-terminal SH3-like
HgeneMYO5Achr15:52689398chr15:41611978ENST00000356338-1040163_170439.66666666666671829.0Nucleotide bindingATP
HgeneMYO5Achr15:52689398chr15:41611978ENST00000399231-1041163_170439.66666666666671856.0Nucleotide bindingATP

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMYO5Achr15:52689398chr15:41611978ENST00000356338-10401338_1445439.66666666666671829.0Coiled coilOntology_term=ECO:0000255
HgeneMYO5Achr15:52689398chr15:41611978ENST00000356338-1040914_1237439.66666666666671829.0Coiled coilOntology_term=ECO:0000255
HgeneMYO5Achr15:52689398chr15:41611978ENST00000399231-10411338_1445439.66666666666671856.0Coiled coilOntology_term=ECO:0000255
HgeneMYO5Achr15:52689398chr15:41611978ENST00000399231-1041914_1237439.66666666666671856.0Coiled coilOntology_term=ECO:0000255
HgeneMYO5Achr15:52689398chr15:41611978ENST00000356338-10401534_1810439.66666666666671829.0DomainDilute
HgeneMYO5Achr15:52689398chr15:41611978ENST00000356338-104069_763439.66666666666671829.0DomainMyosin motor
HgeneMYO5Achr15:52689398chr15:41611978ENST00000356338-1040766_788439.66666666666671829.0DomainIQ 1
HgeneMYO5Achr15:52689398chr15:41611978ENST00000356338-1040789_818439.66666666666671829.0DomainIQ 2
HgeneMYO5Achr15:52689398chr15:41611978ENST00000356338-1040814_836439.66666666666671829.0DomainIQ 3
HgeneMYO5Achr15:52689398chr15:41611978ENST00000356338-1040837_861439.66666666666671829.0DomainIQ 4
HgeneMYO5Achr15:52689398chr15:41611978ENST00000356338-1040862_883439.66666666666671829.0DomainIQ 5
HgeneMYO5Achr15:52689398chr15:41611978ENST00000356338-1040885_914439.66666666666671829.0DomainIQ 6
HgeneMYO5Achr15:52689398chr15:41611978ENST00000399231-10411534_1810439.66666666666671856.0DomainDilute
HgeneMYO5Achr15:52689398chr15:41611978ENST00000399231-104169_763439.66666666666671856.0DomainMyosin motor
HgeneMYO5Achr15:52689398chr15:41611978ENST00000399231-1041766_788439.66666666666671856.0DomainIQ 1
HgeneMYO5Achr15:52689398chr15:41611978ENST00000399231-1041789_818439.66666666666671856.0DomainIQ 2
HgeneMYO5Achr15:52689398chr15:41611978ENST00000399231-1041814_836439.66666666666671856.0DomainIQ 3
HgeneMYO5Achr15:52689398chr15:41611978ENST00000399231-1041837_861439.66666666666671856.0DomainIQ 4
HgeneMYO5Achr15:52689398chr15:41611978ENST00000399231-1041862_883439.66666666666671856.0DomainIQ 5
HgeneMYO5Achr15:52689398chr15:41611978ENST00000399231-1041885_914439.66666666666671856.0DomainIQ 6
HgeneMYO5Achr15:52689398chr15:41611978ENST00000356338-1040643_665439.66666666666671829.0RegionActin-binding
HgeneMYO5Achr15:52689398chr15:41611978ENST00000399231-1041643_665439.66666666666671856.0RegionActin-binding
TgeneOIP5chr15:52689398chr15:41611978ENST000002205141575_174129.66666666666666230.0DomainMis18


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
MYO5AMLPH, DYNLL2, DLGAP1, DYNLL1, SHANK2, RAB27A, BMF, EXOC3, EXOC4, EXOC6, SIRT7, FBXO25, HGS, TRIM3, GRIA2, GRIA1, PAN2, CCDC8, PEX19, CREB3, SCP2, DTNBP1, MYH11, CAPZA2, MYO1E, PLS3, NTRK1, CDK2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, IQGAP1, PDLIM7, SYNPO, LIMA1, ANLN, MYO5C, MYO19, MYO18A, Actb, Flot1, Itga5, Myo1c, Ppp1cb, Tpm1, Coro1c, Tmod3, Lima1, Calml3, Myh10, Flnb, FBXW7, SSH1, DKK3, CDH5, TMOD4, UBE2O, TMOD3, EID1, FEZ1, OS9, PPP6R2, MYL2, LRRIQ1, AVIL, FAM160B2, IL20RA, TRIM25, HNRNPL, CALM1, AKAP9, NDEL1, TNF, ESR2, MB21D1, MYC, CDK9, NEK2, KIAA1429, USP14, APEX1, SQSTM1, PLEKHA4, ZC3H18, PRKD1, M, nsp4, nsp6, ORF7b, ESR1, KIF5B, RPH3A, RAB3A, LRRC31, KIF14, KIF23, ARHGEF11, nsp13ab, NINL, NUPR1, DNAJC5, AR, ISG15, EIF6, LAMP1, LAMP2, LAMP3, LAMTOR1, LCK, PEX3, PFN1, RAB11A, RAB2A, RAB35, RAB3B, RAB4A, RAB9A, STX7, TRIM37, ZCCHC10, PBXIP1, INTS4P2, PIPSL, MALL, TRAK1, DPM2, PNMA2, TNNC1, CUL9, WWC1, SH3BGRL, TMEM257, CXCL6, SAAL1, MYL12B, RBX1, GAGE5, LURAP1, PTP4A3, EIF2B5, TRIM52, CASQ2, DTX3, BTF3, nsp1, nsp12, CLEC4D, CLEC4E, PDE4B, FOS,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
MYO5Aall structure
OIP5


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to MYO5A-OIP5


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to MYO5A-OIP5


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYO5AC1836573GRISCELLI SYNDROME, TYPE 32GENOMICS_ENGLAND;ORPHANET
HgeneMYO5AC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneMYO5AC0398794Hypopigmentation-immunodeficiency disease1GENOMICS_ENGLAND
HgeneMYO5AC1859194GRISCELLI SYNDROME, TYPE 11CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneMYO5AC1860157Elejalde Disease1GENOMICS_ENGLAND;ORPHANET
HgeneMYO5AC4721453Peripheral Nervous System Diseases1CTD_human