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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: 35704

FusionGeneSummary for SPINT1_DTWD2

check button Fusion gene summary
Fusion gene informationFusion gene name: SPINT1_DTWD2
Fusion gene ID: 35704
HgeneTgene
Gene symbol

SPINT1

DTWD2

Gene ID

6692

285605

Gene nameserine peptidase inhibitor, Kunitz type 1DTW domain containing 2
SynonymsHAI|HAI1|MANSC2-
Cytomap

15q15.1

5q23.1

Type of geneprotein-codingprotein-coding
Descriptionkunitz-type protease inhibitor 1HAI-1hepatocyte growth factor activator inhibitor type 1serine protease inhibitor, Kunitz type 1DTW domain-containing protein 2
Modification date2018051920180519
UniProtAcc

O43278

Q8NBA8

Ensembl transtripts involved in fusion geneENST00000562057, ENST00000344051, 
ENST00000431806, 
ENST00000304058, 
ENST00000510708, ENST00000515439, 
Fusion gene scores* DoF score5 X 5 X 3=757 X 6 X 4=168
# samples 57
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPINT1 [Title/Abstract] AND DTWD2 [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
ChiTaRS3.1BF242456SPINT1chr15

41149662

+DTWD2chr5

118309674

+
* 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
3UTR-intronENST00000562057ENST00000304058SPINT1chr15

41149662

+DTWD2chr5

118309674

+
3UTR-intronENST00000562057ENST00000510708SPINT1chr15

41149662

+DTWD2chr5

118309674

+
3UTR-intronENST00000562057ENST00000515439SPINT1chr15

41149662

+DTWD2chr5

118309674

+
3UTR-intronENST00000344051ENST00000304058SPINT1chr15

41149662

+DTWD2chr5

118309674

+
3UTR-intronENST00000344051ENST00000510708SPINT1chr15

41149662

+DTWD2chr5

118309674

+
3UTR-intronENST00000344051ENST00000515439SPINT1chr15

41149662

+DTWD2chr5

118309674

+
3UTR-intronENST00000431806ENST00000304058SPINT1chr15

41149662

+DTWD2chr5

118309674

+
3UTR-intronENST00000431806ENST00000510708SPINT1chr15

41149662

+DTWD2chr5

118309674

+
3UTR-intronENST00000431806ENST00000515439SPINT1chr15

41149662

+DTWD2chr5

118309674

+

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FusionProtFeatures for SPINT1_DTWD2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPINT1

O43278

DTWD2

Q8NBA8

Inhibitor of HGF activator. Also acts as an inhibitor ofmatriptase (ST14).

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 SPINT1_DTWD2


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 SPINT1_DTWD2


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 SPINT1_DTWD2


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 SPINT1_DTWD2


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