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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: 23224

FusionGeneSummary for MYOZ2_PNKD

check button Fusion gene summary
Fusion gene informationFusion gene name: MYOZ2_PNKD
Fusion gene ID: 23224
HgeneTgene
Gene symbol

MYOZ2

PNKD

Gene ID

51778

25953

Gene namemyozenin 2paroxysmal nonkinesigenic dyskinesia
SynonymsC4orf5|CMH16|CS-1|FATZ-2BRP17|DYT8|FKSG19|FPD1|KIPP1184|MR-1|MR1|PDC|PKND1|PNKD1|TAHCCP2
Cytomap

4q26

2q35

Type of geneprotein-codingprotein-coding
Descriptionmyozenin-2FATZ-related protein 2calcineurin-binding protein calsarcin-1muscle-specific proteinprobable hydrolase PNKDbrain protein 17myofibrillogenesis regulator 1trans-activated by hepatitis C virus core protein 2
Modification date2018052320180519
UniProtAcc

Q9NPC6

Q8N490

Ensembl transtripts involved in fusion geneENST00000307128, ENST00000273077, 
ENST00000472650, ENST00000248451, 
ENST00000258362, ENST00000436005, 
Fusion gene scores* DoF score2 X 2 X 2=81 X 1 X 1=1
# samples 21
** MAII scorelog2(2/8*10)=1.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: MYOZ2 [Title/Abstract] AND PNKD [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
TCGALDPRADTCGA-YL-A8SC-01AMYOZ2chr4

120057756

+PNKDchr2

219182678

+
* 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
5CDS-intronENST00000307128ENST00000273077MYOZ2chr4

120057756

+PNKDchr2

219182678

+
5CDS-3UTRENST00000307128ENST00000472650MYOZ2chr4

120057756

+PNKDchr2

219182678

+
5CDS-intronENST00000307128ENST00000248451MYOZ2chr4

120057756

+PNKDchr2

219182678

+
5CDS-intronENST00000307128ENST00000258362MYOZ2chr4

120057756

+PNKDchr2

219182678

+
5CDS-intronENST00000307128ENST00000436005MYOZ2chr4

120057756

+PNKDchr2

219182678

+

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FusionProtFeatures for MYOZ2_PNKD


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

Q9NPC6

PNKD

Q8N490

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. Probable hydrolase that plays an aggravative role in thedevelopment of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway. {ECO:0000250}.

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_PNKD


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_PNKD


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
MYOZ2EWSR1, ACTN4, TCAP, FLNC, PPP3CA, MYB, ACTN1, ACTN2, RBPMS, DRICH1, ZDHHC17, HSPB2, CRKPNKDMAGEA11, APP, ILK, KCTD9, PEX19, BTAF1, RTFDC1, EIF2B5, EIF4G3, SETX, TBC1D15, TFIP11, IPO8, EIF2B4, CAMK1, IPO7, HEATR3, NUP160, TNPO2, RANBP6, NCAPD2, IPO9, FDFT1, SAAL1, KIAA1524, MAPK3, NCAPD3, KIAA1279, DIAPH3, GBF1, GOLPH3, GOLPH3L, TSC2, PPP6R2, NUP98, XPO4, PPARGC1B, PPFIBP1, EXOC7, DICER1, AP1B1, NUP85, CETN3, INIP, STAG1, STAG2, PRMT9, IPO11, DCUN1D5, PBXIP1, RRP1, HOOK2, TAF12, NUP107, STOM, ECD, PPP6R1, KIF14, GMNN, ASAH1, EIF3J, RADIL, FBXO30, EIF2B2, NCAPH2, INTS3, MLXIP, FAM73A, EIF2B3, VPS8, PJA1, ARMCX3, EXOC5, DCAF11, LSS, ARL14EP, HAUS7, GEMIN2, ARL2BP, KIAA1244, TARBP2, SMEK2, NUP37, DYM, ATRIP, GON4L, SCARB2, NCSTN, ARMC6, OTUB1, EYA2, FAM160B1


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_PNKD


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_PNKD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYOZ2C3151204CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 161UNIPROT
TgenePNKDC1869117Paroxysmal nonkinesigenic dyskinesia3CTD_human;ORPHANET;UNIPROT
TgenePNKDC0007134Renal Cell Carcinoma1CTD_human