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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:MZT1-TERF1 (FusionGDB2 ID:HG440145TG7013) |
Fusion Gene Summary for MZT1-TERF1 |
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Fusion gene information | Fusion gene name: MZT1-TERF1 | Fusion gene ID: hg440145tg7013 | Hgene | Tgene | Gene symbol | MZT1 | TERF1 | Gene ID | 440145 | 7013 |
Gene name | mitotic spindle organizing protein 1 | telomeric repeat binding factor 1 | |
Synonyms | C13orf37|MOZART1 | PIN2|TRBF1|TRF|TRF1|hTRF1-AS|t-TRF1 | |
Cytomap | ('MZT1')('TERF1') 13q21.33 | 8q21.11 | |
Type of gene | protein-coding | protein-coding | |
Description | mitotic-spindle organizing protein 1mitotic-spindle organizing protein associated with a ring of gamma-tubulin 1 | telomeric repeat-binding factor 1NIMA-interacting protein 2TTAGGG repeat-binding factor 1telomeric protein Pin2/TRF1telomeric repeat binding factor (NIMA-interacting) 1 | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000377818, | ||
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 4 X 3=48 |
# samples | 2 | 5 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: MZT1 [Title/Abstract] AND TERF1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | MZT1(73293090)-TERF1(73939175), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | MZT1-TERF1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. MZT1-TERF1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. MZT1-TERF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. MZT1-TERF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | TERF1 | GO:0007004 | telomere maintenance via telomerase | 23685356 |
Tgene | TERF1 | GO:0008156 | negative regulation of DNA replication | 11327863 |
Tgene | TERF1 | GO:1905778 | negative regulation of exonuclease activity | 15200954 |
Tgene | TERF1 | GO:1905839 | negative regulation of telomeric D-loop disassembly | 15200954 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BRCA | TCGA-BH-A0B7-01A | MZT1 | chr13 | 73293090 | - | TERF1 | chr8 | 73939175 | + |
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Fusion Gene ORF analysis for MZT1-TERF1 |
![]() * 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 |
5CDS-intron | ENST00000377818 | ENST00000520783 | MZT1 | chr13 | 73293090 | - | TERF1 | chr8 | 73939175 | + |
In-frame | ENST00000377818 | ENST00000276602 | MZT1 | chr13 | 73293090 | - | TERF1 | chr8 | 73939175 | + |
In-frame | ENST00000377818 | ENST00000276603 | MZT1 | chr13 | 73293090 | - | TERF1 | chr8 | 73939175 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000377818 | MZT1 | chr13 | 73293090 | - | ENST00000276603 | TERF1 | chr8 | 73939175 | + | 1190 | 310 | 16 | 855 | 279 |
ENST00000377818 | MZT1 | chr13 | 73293090 | - | ENST00000276602 | TERF1 | chr8 | 73939175 | + | 2781 | 310 | 16 | 795 | 259 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000377818 | ENST00000276603 | MZT1 | chr13 | 73293090 | - | TERF1 | chr8 | 73939175 | + | 0.001745112 | 0.99825484 |
ENST00000377818 | ENST00000276602 | MZT1 | chr13 | 73293090 | - | TERF1 | chr8 | 73939175 | + | 0.000221986 | 0.999778 |
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Fusion Genomic Features for MZT1-TERF1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for MZT1-TERF1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr13:73293090/chr8:73939175) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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 | MZT1 | chr13:73293090 | chr8:73939175 | ENST00000377818 | - | 2 | 3 | 7_16 | 75 | 83.0 | Compositional bias | Note=Poly-Ala |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276602 | 4 | 9 | 403_428 | 258 | 420.0 | DNA binding | H-T-H motif | |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276603 | 4 | 10 | 403_428 | 258 | 440.0 | DNA binding | H-T-H motif | |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276602 | 4 | 9 | 375_432 | 258 | 420.0 | Domain | HTH myb-type | |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276603 | 4 | 10 | 375_432 | 258 | 440.0 | Domain | HTH myb-type | |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276602 | 4 | 9 | 337_356 | 258 | 420.0 | Motif | Nuclear localization signal | |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276603 | 4 | 10 | 337_356 | 258 | 440.0 | Motif | Nuclear localization signal |
- 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 |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276602 | 4 | 9 | 2_71 | 258 | 420.0 | Compositional bias | Note=Asp/Glu-rich (acidic) | |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276602 | 4 | 9 | 55_62 | 258 | 420.0 | Compositional bias | Note=Poly-Glu | |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276603 | 4 | 10 | 2_71 | 258 | 440.0 | Compositional bias | Note=Asp/Glu-rich (acidic) | |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276603 | 4 | 10 | 55_62 | 258 | 440.0 | Compositional bias | Note=Poly-Glu | |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276602 | 4 | 9 | 58_268 | 258 | 420.0 | Region | Note=TRFH dimerization | |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276603 | 4 | 10 | 58_268 | 258 | 440.0 | Region | Note=TRFH dimerization |
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Fusion Gene Sequence for MZT1-TERF1 |
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>56883_56883_1_MZT1-TERF1_MZT1_chr13_73293090_ENST00000377818_TERF1_chr8_73939175_ENST00000276602_length(transcript)=2781nt_BP=310nt GAGACGCGCTGTGTGATTGCCTCGGAGAGAGGAAGGCGCTCCAGTTCCGGGTCAGGCCCTTCTCCCGCCTCCCTCGGCCTTAGCCATGGC GAGTAGCAGCGGTGCTGGGGCGGCGGCGGCGGCCGCGGCGGCGAATCTGAATGCGGTGCGGGAGACCATGGACGTTCTGCTTGAGATTTC AAGAATTTTGAATACTGGCTTAGATATGGAAACTCTGTCTATTTGTGTACGGCTTTGTGAACAAGGAATTAACCCAGAAGCTTTATCATC GGTTATTAAGGAGCTTCGCAAGGCTACTGAAGCACTGAAGGCAGCGGCAAAAGTAGTAGAAAGCAAAAGGACAAGAACAATAACTTCTCA AGATAAACCTAGTGGTAATGATGTTGAAATGGAAACTGAAGCTAATTTGGATACAAGAAAAAGGTCTCACAAGAATCTTTTCTTATCTAA GTTGCAACATGGAACCCAGCAACAAGACCTTAATAAGAAAGAAAGAAGAGTAGGAACTCCTCAAAGTACAAAAAAGAAAAAAGAAAGCAG AAGAGCCACTGAAAGCAGAATACCTGTTTCAAAGAGTCAGCCGGTAACTCCTGAAAAACATCGAGCTAGAAAAAGACAGGCATGGCTTTG GGAAGAAGACAAGAATTTGAGATCTGGCGTGAGGAAATATGGAGAGGGAAACTGGTCTAAAATACTGTTGCATTATAAATTCAACAACCG GACAAGTGTCATGTTAAAAGACAGATGGAGGACCATGAAGAAACTAAAACTGATTTCCTCAGACAGCGAAGACTGATTGTGTTTGTAAAA GCTTGATGAAAGGACAGTTAAGTATTTTGATCACTGCATTTTGTTTGAAACTTGTGTCATTGATGTAATTTAAAACTTTTGTTTAAAGCA TTACAGTATTTTTCTGTGACCATCAATTAATGAGGGTTTGTGCTACCAGAGTTAAAGCATATGCTATCATTGTATTCTTTAAGAACCTTA TTTTGATAAAATGTAAATTTGTTGAACCCTGCCACATTTAGTATCCCCACCCCCAAATCCTGTTCCAATGAAAAAATTAAAACCTGATAC GAAAAAAAAAAAATTCCAGTTAACCTATTTTGTGTCTGTAGGCTGACCTCAACCCTGTAACGTAACCCATTAAAATGAATTTCTTTTTTT TTAAGACAGAGTTTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATTTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGAT TCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTT CACCATGCTGGTCAGGATGTTCTCCAACTCCTGACTTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGACGTGAGCCA CTGCGTCCTGCCTAAAATGAATTTTCTAGATGATTGAATAACAGTAGTCCTTTGATAGAAGATAATGACTTGGTTTATGGCCTTAATATA CTACTTAATTACTTAAGATGTTTATTAATAGAATGATAAATGTACAGAGTAACCTATAAGCATGACATACTTTTGCTTTCAGTAGTTTCA TGTAAAGAAAAAAACTTGAAAATAGTAATACCTGAGTACCCATGGGAATAATAGACACTGGGGAGGTAGGGTGGGGAGCGGGAGCAAGAG CTGAAAAACTTACCTACTGGGGACTGTGCTCACTACCTGGGTGACAGGATCATACGTACCCCAAACCTCAACATCACACAGTATACTCAG CTAACAAACCTGCCCATGTGTTTCCTGAATCTAAAATAAAAATCGAAATAATTTTTTTAAAAAAGAAAAAGACAATAGTATTACCCATGG GACAAAATTTGTACTATTAGCAAGAATCATTTTGTGTCTCATTTAGAAACAATTTGACTTTTGTTCCAGTGTTTAAACTTTGACAAAAAT GGTTTTGAATAGATCTTTATAACCTGATGCCATAAATACAAGATTCTCTGATACCTTCATTTAATATATCAATATTGGGCCTAAAACAGT ATTCTGTAAAGCTTAAATTGGTATTAACTATGATCATCTTGATGTCTATGATAGATAATAAACAAGGTCATACATACCTTACTAAACAAT TTTGGTTTTTCACCAACATTTTATTCTTTAAAAGATTTAGACTAACAGAATTATTTAGCATTTCGAGTCATGTGCTTTATTTAGCAAGTG AGTAAAAATATTGGAATATTGAAGTATTTGCATAAAAAATCAAATGGTGGTGTTTTGTAATCTCTATTGTATTTCCTATTAAGGTTTCAT ATATTACTTTCCCATTGTTCCTGAATTTGTTATCCTATATATAAACAGAAACATGGATGAGTACCATATACTTCCTGACTCCTTTATCTT GTTACACCACAAGATACTGCACTATTTATTGGAGATATTTTGATGATTAGTGCCAAGGCTGGCATCATGAGCCAAAATAGACTTGTTAAG TCAACCTCATTCCAAACACCTGCTATAGATCATCAAATCTAAGTTGCCATTAATTGTAAGATGTCCTGTTATTTCACACACACAACTAGA AAAGAAAAATCGGTATCAATTATAGTATGGTGCTTTCTTATTTTGAATTTTACTTATTAGAAGAGCTATTTTAGATGTATTTAAACATAA GATTTTTATCACATAACTTGTGGATACAAAAAAAGAGAAATTGTAAGCAAAATAAGTTGGGTAATATATTCCTAAAACCTC >56883_56883_1_MZT1-TERF1_MZT1_chr13_73293090_ENST00000377818_TERF1_chr8_73939175_ENST00000276602_length(amino acids)=259AA_BP=97 MPRREEGAPVPGQALLPPPSALAMASSSGAGAAAAAAAANLNAVRETMDVLLEISRILNTGLDMETLSICVRLCEQGINPEALSSVIKEL RKATEALKAAAKVVESKRTRTITSQDKPSGNDVEMETEANLDTRKRSHKNLFLSKLQHGTQQQDLNKKERRVGTPQSTKKKKESRRATES RIPVSKSQPVTPEKHRARKRQAWLWEEDKNLRSGVRKYGEGNWSKILLHYKFNNRTSVMLKDRWRTMKKLKLISSDSED -------------------------------------------------------------- >56883_56883_2_MZT1-TERF1_MZT1_chr13_73293090_ENST00000377818_TERF1_chr8_73939175_ENST00000276603_length(transcript)=1190nt_BP=310nt GAGACGCGCTGTGTGATTGCCTCGGAGAGAGGAAGGCGCTCCAGTTCCGGGTCAGGCCCTTCTCCCGCCTCCCTCGGCCTTAGCCATGGC GAGTAGCAGCGGTGCTGGGGCGGCGGCGGCGGCCGCGGCGGCGAATCTGAATGCGGTGCGGGAGACCATGGACGTTCTGCTTGAGATTTC AAGAATTTTGAATACTGGCTTAGATATGGAAACTCTGTCTATTTGTGTACGGCTTTGTGAACAAGGAATTAACCCAGAAGCTTTATCATC GGTTATTAAGGAGCTTCGCAAGGCTACTGAAGCACTGAAGGCAGCGGCAAAAGTAGTAGAAAGCAAAAGGACAAGAACAATAACTTCTCA AGATAAACCTAGTGGTAATGATGTTGAAATGGAAACTGAAGCTAATTTGGATACAAGAAAAAGTGTTAGTGACAAACAGTCTGCGGTAAC TGAATCCTCAGAGGGTACAGTATCCTTATTGAGGTCTCACAAGAATCTTTTCTTATCTAAGTTGCAACATGGAACCCAGCAACAAGACCT TAATAAGAAAGAAAGAAGAGTAGGAACTCCTCAAAGTACAAAAAAGAAAAAAGAAAGCAGAAGAGCCACTGAAAGCAGAATACCTGTTTC AAAGAGTCAGCCGGTAACTCCTGAAAAACATCGAGCTAGAAAAAGACAGGCATGGCTTTGGGAAGAAGACAAGAATTTGAGATCTGGCGT GAGGAAATATGGAGAGGGAAACTGGTCTAAAATACTGTTGCATTATAAATTCAACAACCGGACAAGTGTCATGTTAAAAGACAGATGGAG GACCATGAAGAAACTAAAACTGATTTCCTCAGACAGCGAAGACTGATTGTGTTTGTAAAAGCTTGATGAAAGGACAGTTAAGTATTTTGA TCACTGCATTTTGTTTGAAACTTGTGTCATTGATGTAATTTAAAACTTTTGTTTAAAGCATTACAGTATTTTTCTGTGACCATCAATTAA TGAGGGTTTGTGCTACCAGAGTTAAAGCATATGCTATCATTGTATTCTTTAAGAACCTTATTTTGATAAAATGTAAATTTGTTGAACCCT GCCACATTTAGTATCCCCACCCCCAAATCCTGTTCCAATGAAAAAATTAAAACCTGATACGAAAAAAAAAAAATTCCAGTTAACCTATTT TGTGTCTGTAGGCTGACCTC >56883_56883_2_MZT1-TERF1_MZT1_chr13_73293090_ENST00000377818_TERF1_chr8_73939175_ENST00000276603_length(amino acids)=279AA_BP=97 MPRREEGAPVPGQALLPPPSALAMASSSGAGAAAAAAAANLNAVRETMDVLLEISRILNTGLDMETLSICVRLCEQGINPEALSSVIKEL RKATEALKAAAKVVESKRTRTITSQDKPSGNDVEMETEANLDTRKSVSDKQSAVTESSEGTVSLLRSHKNLFLSKLQHGTQQQDLNKKER RVGTPQSTKKKKESRRATESRIPVSKSQPVTPEKHRARKRQAWLWEEDKNLRSGVRKYGEGNWSKILLHYKFNNRTSVMLKDRWRTMKKL KLISSDSED -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for MZT1-TERF1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276602 | 4 | 9 | 265_378 | 258.0 | 420.0 | RLIM | |
Tgene | TERF1 | chr13:73293090 | chr8:73939175 | ENST00000276603 | 4 | 10 | 265_378 | 258.0 | 440.0 | RLIM |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for MZT1-TERF1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for MZT1-TERF1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |