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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: 39105

FusionGeneSummary for TOPORS_ADAMTSL1

check button Fusion gene summary
Fusion gene informationFusion gene name: TOPORS_ADAMTSL1
Fusion gene ID: 39105
HgeneTgene
Gene symbol

TOPORS

ADAMTSL1

Gene ID

10210

92949

Gene nameTOP1 binding arginine/serine rich proteinADAMTS like 1
SynonymsLUN|P53BP3|RP31|TP53BPLADAMTSL-1|ADAMTSR1|C9orf94|PUNCTIN
Cytomap

9p21.1

9p22.2-p22.1

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase ToporsRING-type E3 ubiquitin transferase ToporsSUMO1-protein E3 ligase Toporstopoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligasetopoisomerase I-binding RING finger proteintumor suppressor p53-bindingADAMTS-like protein 1ADAM-TS related protein 1punctin-1
Modification date2018051920180522
UniProtAcc

Q9NS56

Q8N6G6

Ensembl transtripts involved in fusion geneENST00000360538, ENST00000379858, 
ENST00000380548, ENST00000380545, 
ENST00000327883, ENST00000431052, 
ENST00000380570, ENST00000380566, 
ENST00000276935, ENST00000496521, 
Fusion gene scores* DoF score3 X 3 X 2=182 X 2 X 1=4
# samples 32
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: TOPORS [Title/Abstract] AND ADAMTSL1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneTOPORS

GO:0000209

protein polyubiquitination

15247280

HgeneTOPORS

GO:0006513

protein monoubiquitination

15247280

HgeneTOPORS

GO:0006974

cellular response to DNA damage stimulus

15735665

HgeneTOPORS

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

20188669

HgeneTOPORS

GO:0016925

protein sumoylation

17803295

HgeneTOPORS

GO:0051443

positive regulation of ubiquitin-protein transferase activity

15247280

HgeneTOPORS

GO:0051457

maintenance of protein location in nucleus

14516784

HgeneTOPORS

GO:0070936

protein K48-linked ubiquitination

15247280


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
TCGARVLGGTCGA-IK-7675-01ATOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
* 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-shitENST00000360538ENST00000380548TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
Frame-shitENST00000360538ENST00000380545TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
5CDS-intronENST00000360538ENST00000327883TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
5CDS-intronENST00000360538ENST00000431052TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
5CDS-intronENST00000360538ENST00000380570TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
5CDS-intronENST00000360538ENST00000380566TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
5CDS-intronENST00000360538ENST00000276935TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
5CDS-intronENST00000360538ENST00000496521TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
intron-3CDSENST00000379858ENST00000380548TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
intron-3CDSENST00000379858ENST00000380545TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
intron-intronENST00000379858ENST00000327883TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
intron-intronENST00000379858ENST00000431052TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
intron-intronENST00000379858ENST00000380570TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
intron-intronENST00000379858ENST00000380566TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
intron-intronENST00000379858ENST00000276935TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+
intron-intronENST00000379858ENST00000496521TOPORSchr9

32550772

-ADAMTSL1chr9

18826282

+

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FusionProtFeatures for TOPORS_ADAMTSL1


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

Q9NS56

ADAMTSL1

Q8N6G6

Functions as an E3 ubiquitin-protein ligase and as an E3SUMO1-protein ligase. Probable tumor suppressor involved in cellgrowth, cell proliferation and apoptosis that regulates p53/TP53stability through ubiquitin-dependent degradation. May regulatechromatin modification through sumoylation of several chromatinmodification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation.{ECO:0000269|PubMed:15247280, ECO:0000269|PubMed:15735665,ECO:0000269|PubMed:16122737, ECO:0000269|PubMed:17803295,ECO:0000269|PubMed:18077445, ECO:0000269|PubMed:19473992,ECO:0000269|PubMed:20188669}.

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 TOPORS_ADAMTSL1


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 TOPORS_ADAMTSL1


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
TOPORSUBE2I, SUMO1, TOP1, TP53, UBE2D1, UBE2D2, UBE2D3, UBE2D4, UBE2J1, UBE2L6, UBE2N, UBE2W, HABP4, GTF2I, NONO, SFPQ, SIN3A, PARP1, SAFB2, DDB2, RBBP7, TRIM28, RBBP4, SMARCC2, DHX15, HNRNPL, RANGAP1, UPF3A, HNRNPM, HNRNPA1, SF3B1, EEF1A1, S100A9, SATB1, PLK1, NKX3-1, UBXN7, IKBKE, PML, SERBP1, CASP8, H2AFX, UBE2E1, SUMO2, MTDH, UBC, SPIN2B, SPIN1, NIFK, EPM2A, PSMC1, LLGL2, ZC3H18, UBE2E3, ZNF786, ZNF214, ZNF324B, ZNF263, ZNF816, NKAP, PNN, CLK3ADAMTSL1B3GALTL, FHL2, RSPRY1, C2orf44, ACOX1, FBN2, GRN


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 TOPORS_ADAMTSL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TOPORS_ADAMTSL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTOPORSC0029463Osteosarcoma1CTD_human