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Fusion gene ID: 23224 |
FusionGeneSummary for MYOZ2_PNKD |
 Fusion gene summary |
| 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| 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 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 |
| 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. |
| 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 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MYOZ2 | PNKD |