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Fusion gene ID: 20525 |
FusionGeneSummary for MACROD1_TCN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MACROD1_TCN1 | Fusion gene ID: 20525 | Hgene | Tgene | Gene symbol | MACROD1 | TCN1 | Gene ID | 28992 | 6947 |
| Gene name | MACRO domain containing 1 | transcobalamin 1 | |
| Synonyms | LRP16 | HC|TC-1|TC1|TCI | |
| Cytomap | 11q13.1 | 11q12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | O-acetyl-ADP-ribose deacetylase MACROD1MACRO domain-containing protein 1[Protein ADP-ribosylglutamate] hydrolase | transcobalamin-1haptocorinhaptocorrinprotein Rtranscobalamin I (vitamin B12 binding protein, R binder family) | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9BQ69 | P20061 | |
| Ensembl transtripts involved in fusion gene | ENST00000255681, ENST00000538595, | ENST00000257264, ENST00000532419, | |
| Fusion gene scores | * DoF score | 11 X 2 X 11=242 | 3 X 3 X 3=27 |
| # samples | 13 | 3 | |
| ** MAII score | log2(13/242*10)=-0.89649542424614 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MACROD1 [Title/Abstract] AND TCN1 [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 | MACROD1 | GO:0042278 | purine nucleoside metabolic process | 21257746 |
| Hgene | MACROD1 | GO:0051725 | protein de-ADP-ribosylation | 23474712 |
| 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 | HNSC | TCGA-CN-A49C-01A | MACROD1 | chr11 | 63918711 | - | TCN1 | chr11 | 59622308 | - |
| * 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 |
| In-frame | ENST00000255681 | ENST00000257264 | MACROD1 | chr11 | 63918711 | - | TCN1 | chr11 | 59622308 | - |
| 5CDS-5UTR | ENST00000255681 | ENST00000532419 | MACROD1 | chr11 | 63918711 | - | TCN1 | chr11 | 59622308 | - |
| 5UTR-3CDS | ENST00000538595 | ENST00000257264 | MACROD1 | chr11 | 63918711 | - | TCN1 | chr11 | 59622308 | - |
| 5UTR-5UTR | ENST00000538595 | ENST00000532419 | MACROD1 | chr11 | 63918711 | - | TCN1 | chr11 | 59622308 | - |
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FusionProtFeatures for MACROD1_TCN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MACROD1 | TCN1 |
| Removes ADP-ribose from glutamate residues in proteinsbearing a single ADP-ribose moiety. Inactive towards proteinsbearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, asignaling molecule generated by the deacetylation of acetylatedlysine residues in histones and other proteins. Plays a role inestrogen signaling. Binds to androgen receptor (AR) and amplifiesthe transactivation function of AR in response to androgen. Mayplay an important role in carcinogenesis and/or progression ofhormone-dependent cancers by feed-forward mechanism that activatesESR1 transactivation. Could be an ESR1 coactivator, providing apositive feedback regulatory loop for ESR1 signal transduction.Could be involved in invasive growth by down-regulating CDH1 inendometrial cancer cells. Enhances ESR1-mediated transcriptionactivity. {ECO:0000269|PubMed:17893710,ECO:0000269|PubMed:17914104, ECO:0000269|PubMed:19022849,ECO:0000269|PubMed:19403568, ECO:0000269|PubMed:21257746,ECO:0000269|PubMed:23474712}. | Binds vitamin B12 with femtomolar affinity and protectsit from the acidic environment of the stomach. |
| 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 |
| Hgene | MACROD1 | chr11:63918711 | chr11:59622308 | ENST00000255681 | - | 3 | 11 | 159_161 | 172 | 225 | Region | Substrate binding |
| Hgene | MACROD1 | chr11:63918711 | chr11:59622308 | ENST00000255681 | - | 3 | 11 | 172_174 | 172 | 225 | Region | Substrate binding |
| Tgene | >TCN1 | chr11:63918711 | chr11:59622308 | ENST00000257264 | - | 5 | 9 | 311_332 | 312 | 434 | Region | Note=Flexible linker |
| Tgene | >TCN1 | chr11:63918711 | chr11:59622308 | ENST00000257264 | - | 5 | 9 | 333_433 | 312 | 434 | Region | Note=Globular C-terminal beta domain |
| Tgene | >TCN1 | chr11:63918711 | chr11:59622308 | ENST00000257264 | - | 5 | 9 | 402_404 | 312 | 434 | Region | Note=Cobalamin binding |
| - 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 |
| Hgene | >MACROD1 | chr11:63918711 | chr11:59622308 | ENST00000255681 | - | 3 | 11 | 141_322 | 172 | 225 | Domain | Macro |
| Hgene | >MACROD1 | chr11:63918711 | chr11:59622308 | ENST00000255681 | - | 3 | 11 | 179_184 | 172 | 225 | Region | Substrate binding |
| Hgene | >MACROD1 | chr11:63918711 | chr11:59622308 | ENST00000255681 | - | 3 | 11 | 267_273 | 172 | 225 | Region | Substrate binding |
| Tgene | TCN1 | chr11:63918711 | chr11:59622308 | ENST00000257264 | - | 5 | 9 | 142_146 | 312 | 434 | Region | Note=Cobalamin binding |
| Tgene | TCN1 | chr11:63918711 | chr11:59622308 | ENST00000257264 | - | 5 | 9 | 182_186 | 312 | 434 | Region | Note=Cobalamin binding |
| Tgene | TCN1 | chr11:63918711 | chr11:59622308 | ENST00000257264 | - | 5 | 9 | 24_310 | 312 | 434 | Region | Note=Globular N-terminal alpha domain |
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FusionGeneSequence for MACROD1_TCN1 |
| 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_MACROD1_ENST00000255681_chr11_63918711_-_TCN1_ENST00000257264_chr11_59622308_-_294aa MSLQSRLSGRLAQLRAAGQLLVPPRPRPGHLAGATRTRSSTCGPPAFLGVFGRRARTSAGVGAWGAAAVGRTAGVRTWAPLAMAAKVDLS TSTDWKEAKSFLKGLSDKQREEHYFCKDFVRLKKIPTWKEMAKGVAVKVEEPRYKKDKQLNEKISLLRSDITKLEVDAIVNAGNFNISAD EPITVTPPDSQSYISVNYSVRINETYFTNVTVLNGSVFLSVMEKAQKMNDTIFGFTMEERSWGPYITCIQGLCANNNDRTYWELLSGGEP |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_MACROD1_ENST00000255681_chr11_63918711_-_TCN1_ENST00000257264_chr11_59622308_-_882nt ATGTCTCTACAGAGCCGACTGTCCGGCCGCCTGGCACAGCTGCGCGCGGCGGGGCAGCTGCTCGTCCCCCCGCGCCCCCGGCCCGGACAC TTGGCGGGTGCCACGAGGACCCGCAGCAGCACGTGCGGTCCCCCGGCGTTCCTGGGCGTGTTCGGCCGCCGTGCGCGGACCTCGGCGGGA GTTGGGGCGTGGGGGGCGGCGGCGGTGGGGCGGACAGCCGGGGTGCGCACTTGGGCCCCCCTGGCCATGGCGGCGAAGGTGGACCTGAGC ACCTCCACCGACTGGAAGGAGGCGAAATCCTTTCTGAAGGGCCTGAGTGACAAGCAGCGGGAGGAACATTACTTCTGCAAGGACTTTGTC AGGCTGAAGAAGATCCCGACATGGAAGGAGATGGCGAAAGGGGTGGCTGTGAAGGTGGAGGAGCCCAGGTATAAAAAGGACAAGCAGCTC AATGAGAAAATCTCCCTGCTCCGCAGCGACATCACCAAGCTGGAGGTGGACGCCATCGTCAACGCCGGTAACTTCAACATCTCCGCTGAT GAGCCTATAACTGTGACACCTCCTGACTCACAATCATATATCTCCGTCAATTACTCTGTGAGAATCAATGAAACATATTTCACCAATGTC ACTGTGCTAAATGGTTCTGTCTTCCTCAGTGTGATGGAGAAAGCCCAGAAAATGAATGATACTATATTTGGTTTCACAATGGAGGAGCGC TCATGGGGGCCCTATATCACCTGTATTCAGGGCCTATGTGCCAACAATAATGACAGAACCTACTGGGAACTTCTGAGTGGAGGCGAACCA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_MACROD1_ENST00000255681_chr11_63918711_-_TCN1_ENST00000257264_chr11_59622308_-_1124nt GAGAGACACTCCCGAGCGCCGTAAATAGAGTCCAAGTGGGCGGAGAGCCGTCCCGCGCCGCCCGCTCATGTCTCTACAGAGCCGACTGTC CGGCCGCCTGGCACAGCTGCGCGCGGCGGGGCAGCTGCTCGTCCCCCCGCGCCCCCGGCCCGGACACTTGGCGGGTGCCACGAGGACCCG CAGCAGCACGTGCGGTCCCCCGGCGTTCCTGGGCGTGTTCGGCCGCCGTGCGCGGACCTCGGCGGGAGTTGGGGCGTGGGGGGCGGCGGC GGTGGGGCGGACAGCCGGGGTGCGCACTTGGGCCCCCCTGGCCATGGCGGCGAAGGTGGACCTGAGCACCTCCACCGACTGGAAGGAGGC GAAATCCTTTCTGAAGGGCCTGAGTGACAAGCAGCGGGAGGAACATTACTTCTGCAAGGACTTTGTCAGGCTGAAGAAGATCCCGACATG GAAGGAGATGGCGAAAGGGGTGGCTGTGAAGGTGGAGGAGCCCAGGTATAAAAAGGACAAGCAGCTCAATGAGAAAATCTCCCTGCTCCG CAGCGACATCACCAAGCTGGAGGTGGACGCCATCGTCAACGCCGGTAACTTCAACATCTCCGCTGATGAGCCTATAACTGTGACACCTCC TGACTCACAATCATATATCTCCGTCAATTACTCTGTGAGAATCAATGAAACATATTTCACCAATGTCACTGTGCTAAATGGTTCTGTCTT CCTCAGTGTGATGGAGAAAGCCCAGAAAATGAATGATACTATATTTGGTTTCACAATGGAGGAGCGCTCATGGGGGCCCTATATCACCTG TATTCAGGGCCTATGTGCCAACAATAATGACAGAACCTACTGGGAACTTCTGAGTGGAGGCGAACCACTGAGCCAAGGAGCTGGTAGTTA CGTTGTCCGCAATGGAGAAAACTTGGAGGTTCGCTGGAGCAAATACTAATAAGCCCAAACTTTCCTCAGCTGCATAAAATCCATTTGCAG TGGAGTTCCATGTTTATTGTCCTTATGCCTTCTTCTTCATTTATCCCAGTACGAGCAGGAGAGTTAATAACCTCCCCTTCTCTCTCTACA |
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FusionGenePPI for MACROD1_TCN1 |
| 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 |
| MACROD1 | BAG3, PARP1, IKBKG, XRCC6, XRCC5, IKBKB, ERC1, EIF2AK2, HNRNPU, CSTF3, YBX1, DHX9, DDX21, PPP2R1A, PTP4A1, H2AFX, PARP2, SUPT16H, HIST2H3PS2, XPC, SSRP1, HBA2, EXOC3, CETN2, LIG3, HBE1, RPA1, PTPN6, PTPN7, DLD | TCN1 | CBL, DDX31 |
| - 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 MACROD1_TCN1 |
| 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 | TCN1 | P20061 | DB00200 | Hydroxocobalamin | Transcobalamin-1 | small molecule | approved |
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RelatedDiseases for MACROD1_TCN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | TCN1 | C0002888 | Anemia, Megaloblastic | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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