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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: 39074

FusionGeneSummary for TOP1MT_SND1

check button Fusion gene summary
Fusion gene informationFusion gene name: TOP1MT_SND1
Fusion gene ID: 39074
HgeneTgene
Gene symbol

TOP1MT

SND1

Gene ID

116447

27044

Gene nameDNA topoisomerase I mitochondrialstaphylococcal nuclease and tudor domain containing 1
Synonyms-TDRD11|Tudor-SN|p100
Cytomap

8q24.3

7q32.1

Type of geneprotein-codingprotein-coding
DescriptionDNA topoisomerase I, mitochondrialmitochondrial topoisomerase IBtopoisomerase (DNA) I, mitochondrialstaphylococcal nuclease domain-containing protein 1EBNA2 coactivator p100testis tissue sperm-binding protein Li 82Ptudor domain-containing protein 11
Modification date2018052320180523
UniProtAcc

Q969P6

Q7KZF4

Ensembl transtripts involved in fusion geneENST00000521193, ENST00000519148, 
ENST00000505857, ENST00000329245, 
ENST00000523676, 
ENST00000354725, 
ENST00000467238, 
Fusion gene scores* DoF score1 X 1 X 1=120 X 15 X 10=3000
# samples 121
** MAII scorelog2(1/1*10)=3.32192809488736log2(21/3000*10)=-3.83650126771712
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TOP1MT [Title/Abstract] AND SND1 [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

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
ChiTaRS3.1AW861197TOP1MTchr8

144392312

+SND1chr7

127507030

+
* 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
intron-intronENST00000521193ENST00000354725TOP1MTchr8

144392312

+SND1chr7

127507030

+
intron-intronENST00000521193ENST00000467238TOP1MTchr8

144392312

+SND1chr7

127507030

+
intron-intronENST00000519148ENST00000354725TOP1MTchr8

144392312

+SND1chr7

127507030

+
intron-intronENST00000519148ENST00000467238TOP1MTchr8

144392312

+SND1chr7

127507030

+
intron-intronENST00000505857ENST00000354725TOP1MTchr8

144392312

+SND1chr7

127507030

+
intron-intronENST00000505857ENST00000467238TOP1MTchr8

144392312

+SND1chr7

127507030

+
intron-intronENST00000329245ENST00000354725TOP1MTchr8

144392312

+SND1chr7

127507030

+
intron-intronENST00000329245ENST00000467238TOP1MTchr8

144392312

+SND1chr7

127507030

+
intron-intronENST00000523676ENST00000354725TOP1MTchr8

144392312

+SND1chr7

127507030

+
intron-intronENST00000523676ENST00000467238TOP1MTchr8

144392312

+SND1chr7

127507030

+

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FusionProtFeatures for TOP1MT_SND1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TOP1MT

Q969P6

SND1

Q7KZF4

Releases the supercoiling and torsional tension of DNAintroduced during duplication of mitochondrial DNA by transientlycleaving and rejoining one strand of the DNA duplex. Introduces asingle-strand break via transesterification at a target site induplex DNA. The scissile phosphodiester is attacked by thecatalytic tyrosine of the enzyme, resulting in the formation of aDNA-(3'-phosphotyrosyl)-enzyme intermediate and the expulsion of a5'-OH DNA strand. The free DNA strand then rotates around theintact phosphodiester bond on the opposing strand, thus removingDNA supercoils. Finally, in the religation step, the DNA 5'-OHattacks the covalent intermediate to expel the active-sitetyrosine and restore the DNA phosphodiester backbone (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:11526219}. Functions as a bridging factor between STAT6 and thebasal transcription factor. Plays a role in PIM1 regulation of MYBactivity. Functions as a transcriptional coactivator for theEpstein-Barr virus nuclear antigen 2 (EBNA2).{ECO:0000269|PubMed:7651391}.

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 TOP1MT_SND1


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 TOP1MT_SND1


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


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 TOP1MT_SND1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneTOP1MTQ969P6DB00762IrinotecanDNA topoisomerase I, mitochondrialsmall moleculeapproved|investigational
HgeneTOP1MTQ969P6DB01030TopotecanDNA topoisomerase I, mitochondrialsmall moleculeapproved|investigational

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RelatedDiseases for TOP1MT_SND1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSND1C0004352Autistic Disorder1CTD_human
TgeneSND1C0024121Lung Neoplasms1CTD_human