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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 39078

FusionGeneSummary for TOP1_FAM193B

check button Fusion gene summary
Fusion gene informationFusion gene name: TOP1_FAM193B
Fusion gene ID: 39078
HgeneTgene
Gene symbol

TOP1

FAM193B

Gene ID

7150

54540

Gene nameDNA topoisomerase Ifamily with sequence similarity 193 member B
SynonymsTOPIIRIZIO
Cytomap

20q12

5q35.3

Type of geneprotein-codingprotein-coding
DescriptionDNA topoisomerase 1topoisomerase (DNA) Itype I DNA topoisomeraseprotein FAM193B
Modification date2018052320180519
UniProtAcc

P11387

Q96PV7

Ensembl transtripts involved in fusion geneENST00000361337, ENST00000514747, 
ENST00000329540, ENST00000443375, 
ENST00000508298, 
Fusion gene scores* DoF score9 X 4 X 7=2525 X 5 X 3=75
# samples 95
** MAII scorelog2(9/252*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TOP1 [Title/Abstract] AND FAM193B [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTOP1

GO:0006265

DNA topological change

14594810


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDOVTCGA-13-1487-01ATOP1chr20

39658095

+FAM193Bchr5

176952206

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000361337ENST00000514747TOP1chr20

39658095

+FAM193Bchr5

176952206

-
Frame-shiftENST00000361337ENST00000329540TOP1chr20

39658095

+FAM193Bchr5

176952206

-
Frame-shiftENST00000361337ENST00000443375TOP1chr20

39658095

+FAM193Bchr5

176952206

-
5CDS-5UTRENST00000361337ENST00000508298TOP1chr20

39658095

+FAM193Bchr5

176952206

-

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FusionProtFeatures for TOP1_FAM193B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TOP1

P11387

FAM193B

Q96PV7


check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for TOP1_FAM193B


check button 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 TOP1_FAM193B


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
TOP1CSNK2A1, CSNK2A2, TP53, TAL1, NCL, SRSF1, BTBD1, BTBD2, TOPORS, SRSF11, SFPQ, UBE2I, CDT1, CDKN2A, RRP1B, H2AFY, PMS1, MGMT, HIST1H3E, H3F3A, MYC, ICT1, HDAC5, NOP56, NPM1, FBL, HIST1H1C, H1FX, HNRNPA1, HNRNPA2B1, HNRNPA3, HNRNPC, HNRNPK, HNRNPL, HNRNPR, ELAVL1, MKI67, NAT10, DHX9, NOP2, NONO, PARP1, DDX21, DDX17, SF3B3, SF3B1, TCOF1, SNRPA1, DDX23, EFTUD2, SNRNP200, PRPF8, OAS3, EIF2AK2, PCNA, HDGF, SIRT7, GTF3C1, XRCC5, CUL3, CDK2, CUL1, COPS5, CAND1, DDB2, ERCC8, ATM, IRF4, BARD1, ELK3, TARBP2, KMT2A, IRF8, IRF9, SNW1, PRB1, SNRNP70, U2AF2, LSM4, GEMIN4, CDK8, BUB3, RBL1, RBL2, GRWD1, SYMPK, JAK1, LIG4, PPP2R2B, TRIM32, RCVRN, PYGM, APAF1, CKAP5, TUBD1, PDE10A, APP, HNRNPM, RPS14, SNRPD1, IK, RBM39, SF3B6, SUPT16H, UTP20, S100A9, NCSTN, RBM14, TPR, ESR1, NKX3-1, VCP, PA2G4, VCAM1, IL7R, ITGA4, HDAC9, CDK14, TARDBP, SHFM1, ERG, MDM2, CUL7, OBSL1, EED, RNF2, EAF1, ZRANB2, APLF, NTRK1, RBM25, PWP1, RBM28, TOP2A, TOP2B, SCARNA22, FSHR, SRPK2, LAMB3, TRIM26, NLRP3, MCM5, NF2, CDC5L, PES1, POU5F1, EGFR, FNTA, ARID1A, PDGFRA, ROR1, PBRM1, TSC1, ERBB2, MTOR, BRCA1, CDK4, ESAM, CIDEC, SNRPG, PRICKLE3, DUS4L, GTF2E2, NR3C1, CHEK1, BRCA2, WEE1, PALB2, RAD17, LLGL1, MSH2, NF1, RPS11, CDC73, CDC6, MAP3K4, TTN, FH, COX15, DLST, PDHA1, VDAC1, TRIM25, LMNAFAM193BLDOC1, CDC25A, MAPK8, PKN2, ELAVL1, ATXN1, GSK3A, GSK3B, TRIM23, GOLGA2, TRIM27, GPR183, TRIM10, FBXW11, KCTD5, CUL3


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for TOP1_FAM193B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneTOP1P11387DB00762IrinotecanDNA topoisomerase 1small moleculeapproved|investigational
HgeneTOP1P11387DB01030TopotecanDNA topoisomerase 1small moleculeapproved|investigational
HgeneTOP1P11387DB05630Sodium stibogluconateDNA topoisomerase 1small moleculeapproved|investigational

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RelatedDiseases for TOP1_FAM193B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTOP1C0041755Adverse reaction to drug1CTD_human