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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: 35698

FusionGeneSummary for SPINK1_SPINK1

check button Fusion gene summary
Fusion gene informationFusion gene name: SPINK1_SPINK1
Fusion gene ID: 35698
HgeneTgene
Gene symbol

SPINK1

SPINK1

Gene ID

6690

6690

Gene nameserine peptidase inhibitor, Kazal type 1serine peptidase inhibitor, Kazal type 1
SynonymsPCTT|PSTI|Spink3|TATI|TCPPCTT|PSTI|Spink3|TATI|TCP
Cytomap

5q32

5q32

Type of geneprotein-codingprotein-coding
Descriptionserine protease inhibitor Kazal-type 1pancreatic secretory trypsin inhibitorserine protease inhibitor, Kazal type 1tumor-associated trypsin inhibitorserine protease inhibitor Kazal-type 1pancreatic secretory trypsin inhibitorserine protease inhibitor, Kazal type 1tumor-associated trypsin inhibitor
Modification date2018051920180519
UniProtAcc

P00995

P00995

Ensembl transtripts involved in fusion geneENST00000296695, ENST00000510027, 
ENST00000296695, ENST00000510027, 
Fusion gene scores* DoF score3 X 3 X 2=181 X 1 X 1=1
# samples 31
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: SPINK1 [Title/Abstract] AND SPINK1 [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
ChiTaRS3.1D82311SPINK1chr5

147210841

+SPINK1chr5

147210812

-
* 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-intronENST00000296695ENST00000296695SPINK1chr5

147210841

+SPINK1chr5

147210812

-
intron-intronENST00000296695ENST00000510027SPINK1chr5

147210841

+SPINK1chr5

147210812

-
intron-intronENST00000510027ENST00000296695SPINK1chr5

147210841

+SPINK1chr5

147210812

-
intron-intronENST00000510027ENST00000510027SPINK1chr5

147210841

+SPINK1chr5

147210812

-

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FusionProtFeatures for SPINK1_SPINK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPINK1

P00995

SPINK1

P00995

Serine protease inhibitor which exhibits anti-trypsinactivity (PubMed:7142173). In the pancreas, protects againsttrypsin-catalyzed premature activation of zymogens (Bysimilarity). {ECO:0000250|UniProtKB:P09036,ECO:0000269|PubMed:7142173}. In the male reproductive tract, binds to sperm headswhere it modulates sperm capacitance by inhibiting calcium uptakeand nitrogen oxide (NO) production.{ECO:0000250|UniProtKB:P09036}. Serine protease inhibitor which exhibits anti-trypsinactivity (PubMed:7142173). In the pancreas, protects againsttrypsin-catalyzed premature activation of zymogens (Bysimilarity). {ECO:0000250|UniProtKB:P09036,ECO:0000269|PubMed:7142173}. In the male reproductive tract, binds to sperm headswhere it modulates sperm capacitance by inhibiting calcium uptakeand nitrogen oxide (NO) production.{ECO:0000250|UniProtKB:P09036}.

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 SPINK1_SPINK1


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 SPINK1_SPINK1


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 SPINK1_SPINK1


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 SPINK1_SPINK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPINK1C0238339Hereditary pancreatitis5CTD_human;ORPHANET;UNIPROT
HgeneSPINK1C0030297Pancreatic Neoplasm1CTD_human;HPO
HgeneSPINK1C0030305Pancreatitis1CTD_human;HPO
HgeneSPINK1C0033578Prostatic Neoplasms1CTD_human
HgeneSPINK1C0149521Pancreatitis, Chronic1CTD_human;HPO
TgeneSPINK1C0238339Hereditary pancreatitis5CTD_human;ORPHANET;UNIPROT
TgeneSPINK1C0030297Pancreatic Neoplasm1CTD_human;HPO
TgeneSPINK1C0030305Pancreatitis1CTD_human;HPO
TgeneSPINK1C0033578Prostatic Neoplasms1CTD_human
TgeneSPINK1C0149521Pancreatitis, Chronic1CTD_human;HPO