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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: 23223

FusionGeneSummary for MYOZ2_MYOZ2

check button Fusion gene summary
Fusion gene informationFusion gene name: MYOZ2_MYOZ2
Fusion gene ID: 23223
HgeneTgene
Gene symbol

MYOZ2

MYOZ2

Gene ID

51778

51778

Gene namemyozenin 2myozenin 2
SynonymsC4orf5|CMH16|CS-1|FATZ-2C4orf5|CMH16|CS-1|FATZ-2
Cytomap

4q26

4q26

Type of geneprotein-codingprotein-coding
Descriptionmyozenin-2FATZ-related protein 2calcineurin-binding protein calsarcin-1muscle-specific proteinmyozenin-2FATZ-related protein 2calcineurin-binding protein calsarcin-1muscle-specific protein
Modification date2018052320180523
UniProtAcc

Q9NPC6

Q9NPC6

Ensembl transtripts involved in fusion geneENST00000307128, ENST00000307128, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 3=27
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MYOZ2 [Title/Abstract] AND MYOZ2 [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

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
ChiTaRS3.1BF825570MYOZ2chr4

120085546

+MYOZ2chr4

120107180

-
* 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
Frame-shiftENST00000307128ENST00000307128MYOZ2chr4

120085546

+MYOZ2chr4

120107180

-

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FusionProtFeatures for MYOZ2_MYOZ2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYOZ2

Q9NPC6

MYOZ2

Q9NPC6

Myozenins may serve as intracellular binding proteinsinvolved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurinsignaling to the sarcomere. Plays an important role in themodulation of calcineurin signaling. May play a role inmyofibrillogenesis. Myozenins may serve as intracellular binding proteinsinvolved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurinsignaling to the sarcomere. Plays an important role in themodulation of calcineurin signaling. May play a role inmyofibrillogenesis.

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 MYOZ2_MYOZ2


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 MYOZ2_MYOZ2


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 MYOZ2_MYOZ2


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 MYOZ2_MYOZ2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYOZ2C3151204CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 161UNIPROT
TgeneMYOZ2C3151204CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 161UNIPROT