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Fusion gene ID: 37865 |
FusionGeneSummary for TFRC_CPA3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TFRC_CPA3 | Fusion gene ID: 37865 | Hgene | Tgene | Gene symbol | TFRC | CPA3 | Gene ID | 7037 | 51200 |
| Gene name | transferrin receptor | carboxypeptidase A4 | |
| Synonyms | CD71|IMD46|T9|TFR|TFR1|TR|TRFR|p90 | CPA3 | |
| Cytomap | 3q29 | 7q32.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transferrin receptor protein 1 | carboxypeptidase A4carboxypeptidase A3 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P02786 | P15088 | |
| Ensembl transtripts involved in fusion gene | ENST00000420415, ENST00000360110, ENST00000540528, ENST00000392396, ENST00000535031, ENST00000465288, | ENST00000296046, | |
| Fusion gene scores | * DoF score | 8 X 7 X 6=336 | 1 X 1 X 1=1 |
| # samples | 9 | 1 | |
| ** MAII score | log2(9/336*10)=-1.90046432644909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: TFRC [Title/Abstract] AND CPA3 [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 | TFRC | GO:0030890 | positive regulation of B cell proliferation | 26642240 |
| Hgene | TFRC | GO:0031623 | receptor internalization | 26642240 |
| Hgene | TFRC | GO:0033572 | transferrin transport | 26642240 |
| Hgene | TFRC | GO:0035690 | cellular response to drug | 16254249 |
| Hgene | TFRC | GO:0042102 | positive regulation of T cell proliferation | 26642240 |
| Hgene | TFRC | GO:0045830 | positive regulation of isotype switching | 26642240 |
| Hgene | TFRC | GO:0097286 | iron ion import | 7556058 |
| 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 | LUSC | TCGA-22-5474-01A | TFRC | chr3 | 195787051 | - | CPA3 | chr3 | 148614307 | + |
| * 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 | ENST00000420415 | ENST00000296046 | TFRC | chr3 | 195787051 | - | CPA3 | chr3 | 148614307 | + |
| In-frame | ENST00000360110 | ENST00000296046 | TFRC | chr3 | 195787051 | - | CPA3 | chr3 | 148614307 | + |
| 3UTR-3CDS | ENST00000540528 | ENST00000296046 | TFRC | chr3 | 195787051 | - | CPA3 | chr3 | 148614307 | + |
| Frame-shift | ENST00000392396 | ENST00000296046 | TFRC | chr3 | 195787051 | - | CPA3 | chr3 | 148614307 | + |
| Frame-shift | ENST00000535031 | ENST00000296046 | TFRC | chr3 | 195787051 | - | CPA3 | chr3 | 148614307 | + |
| 5UTR-3CDS | ENST00000465288 | ENST00000296046 | TFRC | chr3 | 195787051 | - | CPA3 | chr3 | 148614307 | + |
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FusionProtFeatures for TFRC_CPA3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TFRC | CPA3 |
| Cellular uptake of iron occurs via receptor-mediatedendocytosis of ligand-occupied transferrin receptor intospecialized endosomes. Endosomal acidification leads to ironrelease. The apotransferrin-receptor complex is then recycled tothe cell surface with a return to neutral pH and the concomitantloss of affinity of apotransferrin for its receptor. Transferrinreceptor is necessary for development of erythrocytes and thenervous system (By similarity). A second ligand, the heditaryhemochromatosis protein HFE, competes for binding with transferrinfor an overlapping C-terminal binding site. Positively regulates Tand B cell proliferation through iron uptake (PubMed:26642240).{ECO:0000250, ECO:0000269|PubMed:26642240,ECO:0000269|PubMed:3568132}. (Microbial infection) Acts as a receptor for new-worldarenaviruses: Guanarito, Junin and Machupo virus.{ECO:0000269|PubMed:17287727, ECO:0000269|PubMed:18268337}. |
| 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 TFRC_CPA3 |
| 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. |
| >In-frame_TFRC_ENST00000360110_chr3_195787051_-_CPA3_ENST00000296046_chr3_148614307_+_574aa MMDQARSAFSNLFGGEPLSYTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPKRCSGSICYGTIAVIVFFLIGFMIGYLGYCK GVEPKTECERLAGTESPVREEPGEDFPAARRLYWDDLKRKLSEKLDSTDFTGTIKLLNENSYVPREAGSQKDENLALYVENQFREFKLSK VWRDQHFVKIQVKDSAQNSVIIVDKNGRLVYLVENPGGYVAYSKAATVTGKLVHANFGTKKDFEDLYTPVNGSIVIVRAGKITFAEKVAN AESLNAIGVLIYMDQTKFPIVNAELSFFGHAHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTD STCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHYVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIF ASWSAGDFGSVGATEWLEGYLSSLHLKAFTYINLDKAVLGTSNFKVSASPLLYTLIEKTMQNTRYQVLLXTGLMTWASNTHLPLSSEIKA |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_TFRC_ENST00000360110_chr3_195787051_-_CPA3_ENST00000296046_chr3_148614307_+_1724nt ATGATGGATCAAGCTAGATCAGCATTCTCTAACTTGTTTGGTGGAGAACCATTGTCATATACCCGGTTCAGCCTGGCTCGGCAAGTAGAT GGCGATAACAGTCATGTGGAGATGAAACTTGCTGTAGATGAAGAAGAAAATGCTGACAATAACACAAAGGCCAATGTCACAAAACCAAAA AGGTGTAGTGGAAGTATCTGCTATGGGACTATTGCTGTGATCGTCTTTTTCTTGATTGGATTTATGATTGGCTACTTGGGCTATTGTAAA GGGGTAGAACCAAAAACTGAGTGTGAGAGACTGGCAGGAACCGAGTCTCCAGTGAGGGAGGAGCCAGGAGAGGACTTCCCTGCAGCACGT CGCTTATATTGGGATGACCTGAAGAGAAAGTTGTCGGAGAAACTGGACAGCACAGACTTCACCGGCACCATCAAGCTGCTGAATGAAAAT TCATATGTCCCTCGTGAGGCTGGATCTCAAAAAGATGAAAATCTTGCGTTGTATGTTGAAAATCAATTTCGTGAATTTAAACTCAGCAAA GTCTGGCGTGATCAACATTTTGTTAAGATTCAGGTCAAAGACAGCGCTCAAAACTCGGTGATCATAGTTGATAAGAACGGTAGACTTGTT TACCTGGTGGAGAATCCTGGGGGTTATGTGGCGTATAGTAAGGCTGCAACAGTTACTGGTAAACTGGTCCATGCTAATTTTGGTACTAAA AAAGATTTTGAGGATTTATACACTCCTGTGAATGGATCTATAGTGATTGTCAGAGCAGGGAAAATCACCTTTGCAGAAAAGGTTGCAAAT GCTGAAAGCTTAAATGCAATTGGTGTGTTGATATACATGGACCAGACTAAATTTCCCATTGTTAACGCAGAACTTTCATTCTTTGGACAT GCTCATCTGGGGACAGGTGACCCTTACACACCTGGATTCCCTTCCTTCAATCACACTCAGTTTCCACCATCTCGGTCATCAGGATTGCCT AATATACCTGTCCAGACAATCTCCAGAGCTGCTGCAGAAAAGCTGTTTGGGAATATGGAAGGAGACTGTCCCTCTGACTGGAAAACAGAC TCTACATGTAGGATGGTAACCTCAGAAAGCAAGAATGTGAAGCTCACTGTGAGCAATGTGCTGAAAGAGATAAAAATTCTTAACATCTTT GGAGTTATTAAAGGCTTTGTAGAACCAGATCACTATGTTGTAGTTGGGGCCCAGAGAGATGCATGGGGCCCTGGAGCTGCAAAATCCGGT GTAGGCACAGCTCTCCTATTGAAACTTGCCCAGATGTTCTCAGATATGGTCTTAAAAGATGGGTTTCAGCCCAGCAGAAGCATTATCTTT GCCAGTTGGAGTGCTGGAGACTTTGGATCGGTTGGTGCCACTGAATGGCTAGAGGGATACCTTTCGTCCCTGCATTTAAAGGCTTTCACT TATATTAATCTGGATAAAGCGGTTCTTGGTACCAGCAACTTCAAGGTTTCTGCCAGCCCACTGTTGTATACGCTTATTGAGAAAACAATG CAAAATACCCGATATCAGGTTCTTCTTTAGACTGGGCTTATGACCTGGGCATCAAACACACATTTGCCTTTGAGCTCCGAGATAAAGGCA AATTTGGTTTTCTCCTTCCAGAATCCCGGATAAAGCCAACGTGCAGAGAGACCATGCTAGCTGTCAAATTTATTGCCAAGTATATCCTCA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_TFRC_ENST00000360110_chr3_195787051_-_CPA3_ENST00000296046_chr3_148614307_+_2383nt CTCGCGAGCGTACGTGCCTCAGGAAGTGACGCACAGCCCCCCTGGGGGCCGGGGGCGGGGCCAGGCTATAAACCGCCGGTTAGGGGCCGC CATCCCCTCAGAGCGTCGGGATATCGGGTGGCGGCTCGGGACGGAGGACGCGCTAGTGTTCTTCTGTGTGGCAGTTCAGAATGATGGATC AAGCTAGATCAGCATTCTCTAACTTGTTTGGTGGAGAACCATTGTCATATACCCGGTTCAGCCTGGCTCGGCAAGTAGATGGCGATAACA GTCATGTGGAGATGAAACTTGCTGTAGATGAAGAAGAAAATGCTGACAATAACACAAAGGCCAATGTCACAAAACCAAAAAGGTGTAGTG GAAGTATCTGCTATGGGACTATTGCTGTGATCGTCTTTTTCTTGATTGGATTTATGATTGGCTACTTGGGCTATTGTAAAGGGGTAGAAC CAAAAACTGAGTGTGAGAGACTGGCAGGAACCGAGTCTCCAGTGAGGGAGGAGCCAGGAGAGGACTTCCCTGCAGCACGTCGCTTATATT GGGATGACCTGAAGAGAAAGTTGTCGGAGAAACTGGACAGCACAGACTTCACCGGCACCATCAAGCTGCTGAATGAAAATTCATATGTCC CTCGTGAGGCTGGATCTCAAAAAGATGAAAATCTTGCGTTGTATGTTGAAAATCAATTTCGTGAATTTAAACTCAGCAAAGTCTGGCGTG ATCAACATTTTGTTAAGATTCAGGTCAAAGACAGCGCTCAAAACTCGGTGATCATAGTTGATAAGAACGGTAGACTTGTTTACCTGGTGG AGAATCCTGGGGGTTATGTGGCGTATAGTAAGGCTGCAACAGTTACTGGTAAACTGGTCCATGCTAATTTTGGTACTAAAAAAGATTTTG AGGATTTATACACTCCTGTGAATGGATCTATAGTGATTGTCAGAGCAGGGAAAATCACCTTTGCAGAAAAGGTTGCAAATGCTGAAAGCT TAAATGCAATTGGTGTGTTGATATACATGGACCAGACTAAATTTCCCATTGTTAACGCAGAACTTTCATTCTTTGGACATGCTCATCTGG GGACAGGTGACCCTTACACACCTGGATTCCCTTCCTTCAATCACACTCAGTTTCCACCATCTCGGTCATCAGGATTGCCTAATATACCTG TCCAGACAATCTCCAGAGCTGCTGCAGAAAAGCTGTTTGGGAATATGGAAGGAGACTGTCCCTCTGACTGGAAAACAGACTCTACATGTA GGATGGTAACCTCAGAAAGCAAGAATGTGAAGCTCACTGTGAGCAATGTGCTGAAAGAGATAAAAATTCTTAACATCTTTGGAGTTATTA AAGGCTTTGTAGAACCAGATCACTATGTTGTAGTTGGGGCCCAGAGAGATGCATGGGGCCCTGGAGCTGCAAAATCCGGTGTAGGCACAG CTCTCCTATTGAAACTTGCCCAGATGTTCTCAGATATGGTCTTAAAAGATGGGTTTCAGCCCAGCAGAAGCATTATCTTTGCCAGTTGGA GTGCTGGAGACTTTGGATCGGTTGGTGCCACTGAATGGCTAGAGGGATACCTTTCGTCCCTGCATTTAAAGGCTTTCACTTATATTAATC TGGATAAAGCGGTTCTTGGTACCAGCAACTTCAAGGTTTCTGCCAGCCCACTGTTGTATACGCTTATTGAGAAAACAATGCAAAATACCC GATATCAGGTTCTTCTTTAGACTGGGCTTATGACCTGGGCATCAAACACACATTTGCCTTTGAGCTCCGAGATAAAGGCAAATTTGGTTT TCTCCTTCCAGAATCCCGGATAAAGCCAACGTGCAGAGAGACCATGCTAGCTGTCAAATTTATTGCCAAGTATATCCTCAAGCATACTTC CTAAAGAACTGCCCTCTGTTTGGAATAAGCCAATTAATCCTTTTTTGTGCCTTTCATCAGAAAGTCAATCTTCAGTTATCCCCAAATGCA GCTTCTATTTCACCTGAATCCTTCTCTTGCTCATTTAAGTCCCATGTTACTGCTGTTTGCTTTTACTTACTTTCAGTAGCACCATAACGA AGTAGCTTTAAGTGAAACCTTTTAACTACCTTTCTTTGCTCCAAGTGAAGTTTGGACCCAGCAGAAAGCATTATTTTGAAAGGTGATATA CAGTGGGGCACAGAAAACAAATGAAAACCTTCAGTTTCTCACAGATTTTCACCATGTGGCTTCATCAATTTATGTGCTAATACAATAAAA TAAAATGCACTTAATGCTTTAAAATTCATCTTTTTATGATAAACTATATTCTCTGTATTTCTCTATAGCATTAATAATCAATATTAATGC |
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FusionGenePPI for TFRC_CPA3 |
| 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 |
| TFRC | HFE, GABARAP, TFRC, TF, SVIP, PXK, RYK, BST2, HDAC5, LAPTM4A, LAPTM4B, OPTN, RAB8A, HGS, PARK2, SH3BP4, KCNA3, KCNA5, FBXO6, ATP6V1B1, ESR1, B4GALT1, FN1, VCAM1, ATF2, ITGA4, MYO1G, MARCH1, MARCH8, CLN3, ADRB2, RPA1, RPA2, RPA3, ASB4, LGR4, RANBP9, TP53, HUWE1, CAV1, SGTA, MDM2, CUL7, RNF2, EGFR, ZFP36, DLK1, NTRK1, TCTN3, RPGRIP1L, POC5, TMEM17, TMEM216, AHSA1, ERBB2, GJB2, PDGFRA, RAB5C, RAB7A, ATP6AP2, GOLT1B, ARFGAP1, AP2B1, SENP3, ESRRB, CDC73, COX15, PDHA1, TRIM25, LMNA, BRCA1, TES | CPA3 |
| - 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 TFRC_CPA3 |
| 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 | TFRC | P02786 | DB01592 | Iron | Transferrin receptor protein 1 | small molecule | approved |
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RelatedDiseases for TFRC_CPA3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TFRC | C0162316 | Iron deficiency anemia | 3 | CTD_human |
| Hgene | TFRC | C0012715 | Iron Metabolism Disorders | 2 | CTD_human |
| Hgene | TFRC | C0028754 | Obesity | 2 | CTD_human |
| Hgene | TFRC | C0079487 | Helicobacter Infections | 2 | CTD_human |
| Hgene | TFRC | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Hgene | TFRC | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | TFRC | C0003756 | Arenaviridae Infections | 1 | CTD_human |
| Hgene | TFRC | C0005283 | beta Thalassemia | 1 | CTD_human |
| Hgene | TFRC | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | TFRC | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | TFRC | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | TFRC | C0017638 | Glioma | 1 | CTD_human |
| Hgene | TFRC | C0021368 | Inflammation | 1 | CTD_human |
| Hgene | TFRC | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human |
| Hgene | TFRC | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | TFRC | C0024305 | Lymphoma, Non-Hodgkin | 1 | CTD_human |
| Hgene | TFRC | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| Hgene | TFRC | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| Hgene | TFRC | C0085110 | Severe Combined Immunodeficiency | 1 | CTD_human |
| Hgene | TFRC | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | TFRC | C4225219 | IMMUNODEFICIENCY 46 | 1 | ORPHANET;UNIPROT |
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