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Fusion gene ID: 606 |
FusionGeneSummary for ACTN4_TXNDC12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACTN4_TXNDC12 | Fusion gene ID: 606 | Hgene | Tgene | Gene symbol | ACTN4 | TXNDC12 | Gene ID | 81 | 51060 |
| Gene name | actinin alpha 4 | thioredoxin domain containing 12 | |
| Synonyms | ACTININ-4|FSGS|FSGS1 | AG1|AGR1|ERP16|ERP18|ERP19|PDIA16|TLP19|hAG-1|hTLP19 | |
| Cytomap | 19q13.2 | 1p32.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | alpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4 | thioredoxin domain-containing protein 12ER protein 18ER protein 19anterior gradient homolog 1endoplasmic reticulum protein ERp19endoplasmic reticulum resident protein 18endoplasmic reticulum resident protein 19endoplasmic reticulum thioredoxin supe | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | O43707 | O95881 | |
| Ensembl transtripts involved in fusion gene | ENST00000252699, ENST00000424234, ENST00000390009, ENST00000497637, | ENST00000371626, ENST00000471493, ENST00000610127, | |
| Fusion gene scores | * DoF score | 28 X 17 X 13=6188 | 1 X 1 X 1=1 |
| # samples | 30 | 1 | |
| ** MAII score | log2(30/6188*10)=-4.36643879095316 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ACTN4 [Title/Abstract] AND TXNDC12 [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 |
| Hgene | ACTN4 | GO:0035357 | peroxisome proliferator activated receptor signaling pathway | 22351778 |
| Hgene | ACTN4 | GO:0048384 | retinoic acid receptor signaling pathway | 22351778 |
| Hgene | ACTN4 | GO:0051272 | positive regulation of cellular component movement | 9508771 |
| Tgene | TXNDC12 | GO:1902236 | negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 18628206 |
| 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 | RV | GBM | TCGA-14-1034-02B | ACTN4 | chr19 | 39138547 | + | TXNDC12 | chr1 | 52507269 | - |
| * 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 |
| Frame-shift | ENST00000252699 | ENST00000371626 | ACTN4 | chr19 | 39138547 | + | TXNDC12 | chr1 | 52507269 | - |
| 5CDS-intron | ENST00000252699 | ENST00000471493 | ACTN4 | chr19 | 39138547 | + | TXNDC12 | chr1 | 52507269 | - |
| 5CDS-intron | ENST00000252699 | ENST00000610127 | ACTN4 | chr19 | 39138547 | + | TXNDC12 | chr1 | 52507269 | - |
| Frame-shift | ENST00000424234 | ENST00000371626 | ACTN4 | chr19 | 39138547 | + | TXNDC12 | chr1 | 52507269 | - |
| 5CDS-intron | ENST00000424234 | ENST00000471493 | ACTN4 | chr19 | 39138547 | + | TXNDC12 | chr1 | 52507269 | - |
| 5CDS-intron | ENST00000424234 | ENST00000610127 | ACTN4 | chr19 | 39138547 | + | TXNDC12 | chr1 | 52507269 | - |
| Frame-shift | ENST00000390009 | ENST00000371626 | ACTN4 | chr19 | 39138547 | + | TXNDC12 | chr1 | 52507269 | - |
| 5CDS-intron | ENST00000390009 | ENST00000471493 | ACTN4 | chr19 | 39138547 | + | TXNDC12 | chr1 | 52507269 | - |
| 5CDS-intron | ENST00000390009 | ENST00000610127 | ACTN4 | chr19 | 39138547 | + | TXNDC12 | chr1 | 52507269 | - |
| intron-3CDS | ENST00000497637 | ENST00000371626 | ACTN4 | chr19 | 39138547 | + | TXNDC12 | chr1 | 52507269 | - |
| intron-intron | ENST00000497637 | ENST00000471493 | ACTN4 | chr19 | 39138547 | + | TXNDC12 | chr1 | 52507269 | - |
| intron-intron | ENST00000497637 | ENST00000610127 | ACTN4 | chr19 | 39138547 | + | TXNDC12 | chr1 | 52507269 | - |
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FusionProtFeatures for ACTN4_TXNDC12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACTN4 | TXNDC12 |