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Fusion gene ID: 37545 |
FusionGeneSummary for TCF12_FOLR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TCF12_FOLR1 | Fusion gene ID: 37545 | Hgene | Tgene | Gene symbol | TCF12 | FOLR1 | Gene ID | 6938 | 2348 |
| Gene name | transcription factor 12 | folate receptor 1 | |
| Synonyms | CRS3|HEB|HTF4|HsT17266|TCF-12|bHLHb20|p64 | FBP|FOLR | |
| Cytomap | 15q21.3 | 11q13.4 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor 12DNA-binding protein HTF4E-box-binding proteinclass B basic helix-loop-helix protein 20helix-loop-helix transcription factor 4transcription factor HTF-4 | folate receptor alphaFR-alphaKB cells FBPadult folate-binding proteinfolate binding proteinfolate receptor 1 (adult)folate receptor, adultovarian tumor-associated antigen MOv18 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q99081 | P15328 | |
| Ensembl transtripts involved in fusion gene | ENST00000438423, ENST00000267811, ENST00000452095, ENST00000333725, ENST00000557843, ENST00000560764, ENST00000543579, ENST00000537840, ENST00000343827, ENST00000559710, ENST00000559703, | ENST00000312293, ENST00000393681, ENST00000393679, ENST00000393676, | |
| Fusion gene scores | * DoF score | 22 X 12 X 9=2376 | 5 X 3 X 2=30 |
| # samples | 22 | 5 | |
| ** MAII score | log2(22/2376*10)=-3.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/30*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TCF12 [Title/Abstract] AND FOLR1 [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 | TCF12 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11802795 |
| Tgene | FOLR1 | GO:0071231 | cellular response to folic acid | 14722620 |
| 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 | LGG | TCGA-DU-7304-01A | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| * 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-5UTR | ENST00000438423 | ENST00000312293 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000438423 | ENST00000393681 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000438423 | ENST00000393679 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000438423 | ENST00000393676 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000267811 | ENST00000312293 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000267811 | ENST00000393681 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000267811 | ENST00000393679 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000267811 | ENST00000393676 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000452095 | ENST00000312293 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000452095 | ENST00000393681 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000452095 | ENST00000393679 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000452095 | ENST00000393676 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000333725 | ENST00000312293 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000333725 | ENST00000393681 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000333725 | ENST00000393679 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000333725 | ENST00000393676 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000557843 | ENST00000312293 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000557843 | ENST00000393681 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000557843 | ENST00000393679 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000557843 | ENST00000393676 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000560764 | ENST00000312293 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000560764 | ENST00000393681 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000560764 | ENST00000393679 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000560764 | ENST00000393676 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000543579 | ENST00000312293 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000543579 | ENST00000393681 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000543579 | ENST00000393679 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000543579 | ENST00000393676 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000537840 | ENST00000312293 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000537840 | ENST00000393681 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000537840 | ENST00000393679 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000537840 | ENST00000393676 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000343827 | ENST00000312293 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000343827 | ENST00000393681 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000343827 | ENST00000393679 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000343827 | ENST00000393676 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000559710 | ENST00000312293 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000559710 | ENST00000393681 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000559710 | ENST00000393679 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000559710 | ENST00000393676 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000559703 | ENST00000312293 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000559703 | ENST00000393681 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000559703 | ENST00000393679 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
| intron-5UTR | ENST00000559703 | ENST00000393676 | TCF12 | chr15 | 57426698 | + | FOLR1 | chr11 | 71903210 | + |
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FusionProtFeatures for TCF12_FOLR1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TCF12 | FOLR1 |
| Transcriptional regulator. Involved in the initiation ofneuronal differentiation. Activates transcription by binding tothe E box (5'-CANNTG-3'). | Binds to folate and reduced folic acid derivatives andmediates delivery of 5-methyltetrahydrofolate and folate analogsinto the interior of cells. Has high affinity for folate and folicacid analogs at neutral pH. Exposure to slightly acidic pH afterreceptor endocytosis triggers a conformation change that stronglyreduces its affinity for folates and mediates their release.Required for normal embryonic development and normal cellproliferation. {ECO:0000269|PubMed:23851396,ECO:0000269|PubMed:23934049, ECO:0000269|PubMed:2527252,ECO:0000269|PubMed:8033114, ECO:0000269|PubMed:8567728}. |
| 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 TCF12_FOLR1 |
| 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 TCF12_FOLR1 |
| 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 |
| TCF12 | ID2, ASCL4, TCF23, OLIG3, PRSS23, TAL1, ID1, ID3, TAL2, RUNX1T1, CREBBP, EP300, TAF4, TBP, RUNX1, TRIM33, ELAVL1, SMAD2, SMAD3, TCF3, FOXH1, NOTCH1, MYC, SOX2, TCF21, BMF, DGCR6, CDKN2C, MLLT6, PSMA1, QARS, RNASEL, SRI, STAT5A, TSNAX, STK16, MAPKBP1, ARMC8, EDRF1, CRCP, OSGIN1, NEUROG3, VPS28, SPG21, C1orf109, NAGK, HOPX, C16orf45, TWIST2, MORN4, HEXIM2, C6orf165, LYSMD1, TRIM72, SHMT2, MOV10, NXF1, MYOG, CCDC101, NEUROD1, MESP2, NTRK1, TCF12, FRMD6, MYF6, XPO1, ZWINT, STRN3, TCF4, NFATC2, ATOH1, FERD3L, TRIM25 | FOLR1 | GSR, PSMB2, IMPDH2, CUL3, IRAK3, NCAPH2, AGO2 |
| - 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 TCF12_FOLR1 |
| 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 | FOLR1 | P15328 | DB00158 | Folic Acid | Folate receptor alpha | small molecule | approved|nutraceutical|vet_approved |
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RelatedDiseases for TCF12_FOLR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TCF12 | C3715051 | CRANIOSYNOSTOSIS 3 | 2 | UNIPROT |
| Hgene | TCF12 | C0010278 | Craniosynostosis | 1 | CTD_human;HPO |
| Tgene | FOLR1 | C0009375 | Colonic Neoplasms | 2 | CTD_human |
| Tgene | FOLR1 | C0000768 | Congenital Abnormality | 1 | CTD_human |
| Tgene | FOLR1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Tgene | FOLR1 | C0014544 | Epilepsy | 1 | CTD_human;HPO |
| Tgene | FOLR1 | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| Tgene | FOLR1 | C0026650 | Movement Disorders | 1 | CTD_human |
| Tgene | FOLR1 | C0027794 | Neural Tube Defects | 1 | CTD_human |
| Tgene | FOLR1 | C0029463 | Osteosarcoma | 1 | CTD_human |
| Tgene | FOLR1 | C0033922 | Psychomotor Disorders | 1 | CTD_human |
| Tgene | FOLR1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | FOLR1 | C0752109 | Brain Diseases, Metabolic, Inborn | 1 | CTD_human |
| Tgene | FOLR1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | FOLR1 | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
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