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Fusion gene ID: 23224 |
FusionGeneSummary for MYOZ2_PNKD |
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Fusion gene information | Fusion gene name: MYOZ2_PNKD | Fusion gene ID: 23224 | Hgene | Tgene | Gene symbol | MYOZ2 | PNKD | Gene ID | 51778 | 25953 |
Gene name | myozenin 2 | paroxysmal nonkinesigenic dyskinesia | |
Synonyms | C4orf5|CMH16|CS-1|FATZ-2 | BRP17|DYT8|FKSG19|FPD1|KIPP1184|MR-1|MR1|PDC|PKND1|PNKD1|TAHCCP2 | |
Cytomap | 4q26 | 2q35 | |
Type of gene | protein-coding | protein-coding | |
Description | myozenin-2FATZ-related protein 2calcineurin-binding protein calsarcin-1muscle-specific protein | probable hydrolase PNKDbrain protein 17myofibrillogenesis regulator 1trans-activated by hepatitis C virus core protein 2 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9NPC6 | Q8N490 | |
Ensembl transtripts involved in fusion gene | ENST00000307128, | ENST00000273077, ENST00000472650, ENST00000248451, ENST00000258362, ENST00000436005, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
# samples | 2 | 1 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | PRAD | TCGA-YL-A8SC-01A | MYOZ2 | chr4 | 120057756 | + | PNKD | chr2 | 219182678 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000307128 | ENST00000273077 | MYOZ2 | chr4 | 120057756 | + | PNKD | chr2 | 219182678 | + |
5CDS-3UTR | ENST00000307128 | ENST00000472650 | MYOZ2 | chr4 | 120057756 | + | PNKD | chr2 | 219182678 | + |
5CDS-intron | ENST00000307128 | ENST00000248451 | MYOZ2 | chr4 | 120057756 | + | PNKD | chr2 | 219182678 | + |
5CDS-intron | ENST00000307128 | ENST00000258362 | MYOZ2 | chr4 | 120057756 | + | PNKD | chr2 | 219182678 | + |
5CDS-intron | ENST00000307128 | ENST00000436005 | MYOZ2 | chr4 | 120057756 | + | PNKD | chr2 | 219182678 | + |
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FusionProtFeatures for MYOZ2_PNKD |
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Hgene | Tgene |
MYOZ2 | PNKD |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for MYOZ2_PNKD |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MYOZ2 | EWSR1, ACTN4, TCAP, FLNC, PPP3CA, MYB, ACTN1, ACTN2, RBPMS, DRICH1, ZDHHC17, HSPB2, CRK | PNKD | MAGEA11, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MYOZ2_PNKD |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MYOZ2_PNKD |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MYOZ2 | C3151204 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 | 1 | UNIPROT |
Tgene | PNKD | C1869117 | Paroxysmal nonkinesigenic dyskinesia | 3 | CTD_human;ORPHANET;UNIPROT |
Tgene | PNKD | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |