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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 |
| F-actin cross-linking protein which is thought to anchoractin to a variety of intracellular structures. This is a bundlingprotein (Probable). Probably involved in vesicular trafficking viaits association with the CART complex. The CART complex isnecessary for efficient transferrin receptor recycling but not forEGFR degradation (PubMed:15772161). Involved in tight junctionassembly in epithelial cells probably through interaction withMICALL2. Links MICALL2 to the actin cytoskeleton and recruits itto the tight junctions (By similarity). May also function as atranscriptional coactivator, stimulating transcription mediated bythe nuclear hormone receptors PPARG and RARA (PubMed:22351778).{ECO:0000250|UniProtKB:P57780, ECO:0000269|PubMed:15772161,ECO:0000269|PubMed:22351778, ECO:0000305|PubMed:9508771}. | Possesses significant protein thiol-disulfide oxidaseactivity. {ECO:0000269|PubMed:12761212}. |
| Retention 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 . * 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 ACTN4_TXNDC12 |
| 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 ACTN4_TXNDC12 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| ACTN4 | MYOZ2, MYOZ1, PDLIM1, USP6NL, SLC9A3R2, COL17A1, TRIM3, MAGI1, GSN, CAMK2A, CAMK2B, INO80, UBTF, STAT1, HDAC7, MEF2A, UCHL5, TJP1, ATXN7, HDAC5, VDR, ESR1, PSMA3, ELAVL1, SIRT7, SLC2A4, ISG15, COIL, SACS, HGS, UBASH3B, SHC1, NOS3, ACTN2, ACTN1, FMNL1, TRAF3IP1, FN1, VCAM1, CDH1, ITGA4, SVIL, CD81, IGSF8, ICAM1, TXN, RPS27, POT1, KPNA2, MAPK7, CDKN2A, VCP, SF3A3, GNB2, HUWE1, ACTN3, BMP7, ALK, CUL7, OBSL1, CCDC8, EGFR, LUZP4, RARA, HSPB1, AHNAK, ALDOA, ALDOC, IDH3A, MYH15, MYH2, MYH7B, NCAPG2, PSMA6, PSMB5, PUS7, TPM2, TSG101, CKB, CYC1, ECSIT, MCFD2, PSMB8, TPM1, TPM3, TPM4, NTRK1, CAPZA2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, IQGAP1, PDLIM7, SYNPO, MAPRE1, SIN3B, MYEF2, LIMA1, ANLN, MYO5C, MYO19, MYO18A, CTNNB1, MCM2, NFYA, CDC73, DDIAS, SSH1, NCL, DLD, DNM1L, PDHA1, SOD1, TRIM25, TES | TXNDC12 | H2AFX, TXLNA, TLN1, NPM1, SGTA, KLHL2, UBQLN1, SGTB, ZDHHC17, IQGAP2, VBP1, SBF2, TUBGCP4, TUBGCP5, MZT2A, TUBGCP6, MZT2B, TUBGCP3, TUBGCP2, NME7, TUBG1, TM2D3, PTPRO, TRIM25 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ACTN4_TXNDC12 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | TXNDC12 | O95881 | DB00143 | Glutathione | Thioredoxin domain-containing protein 12 | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for ACTN4_TXNDC12 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ACTN4 | C0333497 | Segmental glomerulosclerosis | 3 | UNIPROT |
| Hgene | ACTN4 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | ACTN4 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
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