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Fusion gene ID: 6906 |
FusionGeneSummary for CFL1_TXNDC5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CFL1_TXNDC5 | Fusion gene ID: 6906 | Hgene | Tgene | Gene symbol | CFL1 | TXNDC5 | Gene ID | 6944 | 81567 |
| Gene name | vacuolar protein sorting 72 homolog | thioredoxin domain containing 5 | |
| Synonyms | CFL1|Swc2|TCFL1|YL-1|YL1 | ENDOPDI|ERP46|HCC-2|HCC2|PDIA15|STRF8|UNQ364 | |
| Cytomap | 1q21.3 | 6p24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | vacuolar protein sorting-associated protein 72 homologtranscription factor-like 1transformation suppressor gene YL-1 | thioredoxin domain-containing protein 5ER protein 46endoplasmic reticulum protein ERp46endoplasmic reticulum resident protein 46endothelial protein disulphide isomeraseprotein disulfide isomerase family A, member 15thioredoxin domain containing 5 (e | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P23528 | Q8NBS9 | |
| Ensembl transtripts involved in fusion gene | ENST00000530157, ENST00000525451, ENST00000308162, ENST00000527344, ENST00000531407, ENST00000524553, ENST00000534769, ENST00000531413, | ENST00000539054, ENST00000379757, ENST00000473453, | |
| Fusion gene scores | * DoF score | 7 X 8 X 2=112 | 7 X 7 X 2=98 |
| # samples | 8 | 7 | |
| ** MAII score | log2(8/112*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/98*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CFL1 [Title/Abstract] AND TXNDC5 [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 |
| ChiTaRS3.1 | BP358611 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| * 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 |
| intron-3CDS | ENST00000530157 | ENST00000539054 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000530157 | ENST00000379757 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000530157 | ENST00000473453 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000525451 | ENST00000539054 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000525451 | ENST00000379757 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000525451 | ENST00000473453 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000308162 | ENST00000539054 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000308162 | ENST00000379757 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000308162 | ENST00000473453 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000527344 | ENST00000539054 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000527344 | ENST00000379757 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000527344 | ENST00000473453 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000531407 | ENST00000539054 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000531407 | ENST00000379757 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000531407 | ENST00000473453 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000524553 | ENST00000539054 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000524553 | ENST00000379757 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000524553 | ENST00000473453 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000534769 | ENST00000539054 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000534769 | ENST00000379757 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000534769 | ENST00000473453 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000531413 | ENST00000539054 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000531413 | ENST00000379757 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
| intron-3CDS | ENST00000531413 | ENST00000473453 | CFL1 | chr11 | 65622881 | - | TXNDC5 | chr6 | 7883469 | - |
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FusionProtFeatures for CFL1_TXNDC5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CFL1 | TXNDC5 |
| Binds to F-actin and exhibits pH-sensitive F-actindepolymerizing activity. Regulates actin cytoskeleton dynamics.Important for normal progress through mitosis and normalcytokinesis. Plays a role in the regulation of cell morphology andcytoskeletal organization. Required for the up-regulation ofatypical chemokine receptor ACKR2 from endosomal compartment tocell membrane, increasing its efficiency in chemokine uptake anddegradation (PubMed:11812157, PubMed:15580268, PubMed:21834987,PubMed:23633677). Required for neural tube morphogenesis andneural crest cell migration (By similarity).{ECO:0000250|UniProtKB:P18760, ECO:0000269|PubMed:11812157,ECO:0000269|PubMed:15580268, ECO:0000269|PubMed:21834987,ECO:0000269|PubMed:23633677}. | Possesses thioredoxin activity. Has been shown to reduceinsulin disulfide bonds. Also complements protein disulfide-isomerase deficiency in yeast (By similarity). {ECO:0000250}. |
| 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 CFL1_TXNDC5 |
| 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 CFL1_TXNDC5 |
| 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 |
| - 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 CFL1_TXNDC5 |
| 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 |
| Hgene | CFL1 | P23528 | DB11638 | Artenimol | Cofilin-1 | small molecule | approved|investigational |
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RelatedDiseases for CFL1_TXNDC5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CFL1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | CFL1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | CFL1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Hgene | CFL1 | C0080178 | Spina Bifida | 1 | CTD_human |
| Hgene | CFL1 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Hgene | CFL1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | TXNDC5 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Tgene | TXNDC5 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | TXNDC5 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | TXNDC5 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | TXNDC5 | C0993582 | Arthritis, Experimental | 1 | CTD_human |
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