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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: 17932

FusionGeneSummary for ITPK1_SPINK4

check button Fusion gene summary
Fusion gene informationFusion gene name: ITPK1_SPINK4
Fusion gene ID: 17932
HgeneTgene
Gene symbol

ITPK1

SPINK4

Gene ID

3705

27290

Gene nameinositol-tetrakisphosphate 1-kinaseserine peptidase inhibitor, Kazal type 4
SynonymsITRPK1HEL136|PEC-60|PEC60
Cytomap

14q32.12

9p13.3

Type of geneprotein-codingprotein-coding
Descriptioninositol-tetrakisphosphate 1-kinaseinositol 1,3,4-trisphosphate 5/6-kinaseins(1,3,4)P(3) 5/6-kinaseserine protease inhibitor Kazal-type 4epididymis luminal protein 136gastrointestinal peptidepeptide PEC-60 homolog
Modification date2018052920180519
UniProtAcc

Q13572

O60575

Ensembl transtripts involved in fusion geneENST00000267615, ENST00000354313, 
ENST00000556603, ENST00000555495, 
ENST00000556954, 
ENST00000379725, 
ENST00000379723, ENST00000379721, 
Fusion gene scores* DoF score6 X 6 X 5=1804 X 2 X 5=40
# samples 75
** MAII scorelog2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ITPK1 [Title/Abstract] AND SPINK4 [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
TCGARVLIHCTCGA-DD-A73D-01AITPK1chr14

93581414

-SPINK4chr9

33218363

+
* 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
In-frameENST00000267615ENST00000379725ITPK1chr14

93581414

-SPINK4chr9

33218363

+
5CDS-intronENST00000267615ENST00000379723ITPK1chr14

93581414

-SPINK4chr9

33218363

+
5CDS-intronENST00000267615ENST00000379721ITPK1chr14

93581414

-SPINK4chr9

33218363

+
In-frameENST00000354313ENST00000379725ITPK1chr14

93581414

-SPINK4chr9

33218363

+
5CDS-intronENST00000354313ENST00000379723ITPK1chr14

93581414

-SPINK4chr9

33218363

+
5CDS-intronENST00000354313ENST00000379721ITPK1chr14

93581414

-SPINK4chr9

33218363

+
Frame-shiftENST00000556603ENST00000379725ITPK1chr14

93581414

-SPINK4chr9

33218363

+
5CDS-intronENST00000556603ENST00000379723ITPK1chr14

93581414

-SPINK4chr9

33218363

+
5CDS-intronENST00000556603ENST00000379721ITPK1chr14

93581414

-SPINK4chr9

33218363

+
5UTR-3CDSENST00000555495ENST00000379725ITPK1chr14

93581414

-SPINK4chr9

33218363

+
5UTR-intronENST00000555495ENST00000379723ITPK1chr14

93581414

-SPINK4chr9

33218363

+
5UTR-intronENST00000555495ENST00000379721ITPK1chr14

93581414

-SPINK4chr9

33218363

+
intron-3CDSENST00000556954ENST00000379725ITPK1chr14

93581414

-SPINK4chr9

33218363

+
intron-intronENST00000556954ENST00000379723ITPK1chr14

93581414

-SPINK4chr9

33218363

+
intron-intronENST00000556954ENST00000379721ITPK1chr14

93581414

-SPINK4chr9

33218363

+

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FusionProtFeatures for ITPK1_SPINK4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ITPK1

Q13572

SPINK4

O60575

Kinase that can phosphorylate various inositolpolyphosphate such as Ins(3,4,5,6)P4 or Ins(1,3,4)P3.Phosphorylates Ins(3,4,5,6)P4 at position 1 to formIns(1,3,4,5,6)P5. This reaction is thought to have regulatoryimportance, since Ins(3,4,5,6)P4 is an inhibitor of plasmamembrane Ca(2+)-activated Cl(-) channels, while Ins(1,3,4,5,6)P5is not. Also phosphorylates Ins(1,3,4)P3 on O-5 and O-6 to formIns(1,3,4,6)P4, an essential molecule in the hexakisphosphate(InsP6) pathway. Also acts as an inositol polyphosphatephosphatase that dephosphorylate Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4to Ins(1,3,4)P3, and Ins(1,3,4,5,6)P5 to Ins(3,4,5,6)P4. May alsoact as an isomerase that interconverts the inositoltetrakisphosphate isomers Ins(1,3,4,5)P4 and Ins(1,3,4,6)P4 in thepresence of ADP and magnesium. Probably acts as the rate-limitingenzyme of the InsP6 pathway. Modifies TNF-alpha-induced apoptosisby interfering with the activation of TNFRSF1A-associated deathdomain. {ECO:0000269|PubMed:11909533, ECO:0000269|PubMed:12925536,ECO:0000269|PubMed:17616525}.

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
TgeneSPINK4chr14:93581414chr9:33218363ENST00000379721+0431_86-1587DomainKazal-like

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITPK1chr14:93581414chr9:33218363ENST00000267615-211117_32531415DomainATP-grasp
HgeneITPK1chr14:93581414chr9:33218363ENST00000354313-211117_32531315DomainATP-grasp
HgeneITPK1chr14:93581414chr9:33218363ENST00000556603-211117_32531415DomainATP-grasp
HgeneITPK1chr14:93581414chr9:33218363ENST00000267615-211188_19931415Nucleotide bindingNote=ATP
HgeneITPK1chr14:93581414chr9:33218363ENST00000354313-211188_19931315Nucleotide bindingNote=ATP
HgeneITPK1chr14:93581414chr9:33218363ENST00000556603-211188_19931415Nucleotide bindingNote=ATP


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FusionGeneSequence for ITPK1_SPINK4


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.
>In-frame_ITPK1_ENST00000267615_chr14_93581414_-_SPINK4_ENST00000379725_chr9_33218363_+_182aa
MQTFLKGKRVGYWLSEKKIKKLNFQAFAELCSSANGRYWKEREGRRRDMPGYLLPXLPLCQTTGRIARSLHPDDPGHWELTSPSLDSGGH
THMVPAGGCFAHRPSSRGRGRETAVRSASGSRKAPFLKNAHLXTHGRVSNLFPDVQPGLRHXWAHIYEXMPALLGPDKNQTGHPDHERWQ

>In-frame_ITPK1_ENST00000354313_chr14_93581414_-_SPINK4_ENST00000379725_chr9_33218363_+_182aa
MQTFLKGKRVGYWLSEKKIKKLNFQAFAELCSSANGRYWKEREGRRRDMPGYLLPXLPLCQTTGRIARSLHPDDPGHWELTSPSLDSGGH
THMVPAGGCFAHRPSSRGRGRETAVRSASGSRKAPFLKNAHLXTHGRVSNLFPDVQPGLRHXWAHIYEXMPALLGPDKNQTGHPDHERWQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ITPK1_ENST00000267615_chr14_93581414_-_SPINK4_ENST00000379725_chr9_33218363_+_547nt
ATGCAGACCTTTCTGAAAGGGAAGAGAGTTGGCTACTGGCTGAGCGAGAAGAAAATCAAGAAGCTGAATTTCCAGGCCTTCGCCGAGCTG
TGCAGTTCTGCAAATGGGAGGTACTGGAAAGAACGTGAGGGCAGGAGGAGAGATATGCCAGGGTATTTATTGCCCTAGCTCCCCCTCTGC
CAGACCACAGGTAGAATAGCAAGAAGTCTACATCCTGATGATCCTGGGCATTGGGAGCTCACCTCACCTTCTCTGGACTCTGGAGGGCAC
ACACATATGGTCCCTGCTGGGGGATGCTTCGCACACAGACCGTCTTCCAGAGGCAGGGGCAGGGAAACTGCTGTCAGAAGTGCCAGTGGC
AGCAGGAAAGCTCCCTTTCTCAAGAATGCCCATCTGTGAACACATGGTAGAGTCTCCAACCTGTTCCCAGATGTCCAACCTGGTCTGCGG
CACTGATGGGCTCACATATACGAATGAATGCCAGCTCTGCTTGGCCCGGATAAAAACCAAACAGGACATCCAGATCATGAAAGATGGCAA

>In-frame_ITPK1_ENST00000354313_chr14_93581414_-_SPINK4_ENST00000379725_chr9_33218363_+_547nt
ATGCAGACCTTTCTGAAAGGGAAGAGAGTTGGCTACTGGCTGAGCGAGAAGAAAATCAAGAAGCTGAATTTCCAGGCCTTCGCCGAGCTG
TGCAGTTCTGCAAATGGGAGGTACTGGAAAGAACGTGAGGGCAGGAGGAGAGATATGCCAGGGTATTTATTGCCCTAGCTCCCCCTCTGC
CAGACCACAGGTAGAATAGCAAGAAGTCTACATCCTGATGATCCTGGGCATTGGGAGCTCACCTCACCTTCTCTGGACTCTGGAGGGCAC
ACACATATGGTCCCTGCTGGGGGATGCTTCGCACACAGACCGTCTTCCAGAGGCAGGGGCAGGGAAACTGCTGTCAGAAGTGCCAGTGGC
AGCAGGAAAGCTCCCTTTCTCAAGAATGCCCATCTGTGAACACATGGTAGAGTCTCCAACCTGTTCCCAGATGTCCAACCTGGTCTGCGG
CACTGATGGGCTCACATATACGAATGAATGCCAGCTCTGCTTGGCCCGGATAAAAACCAAACAGGACATCCAGATCATGAAAGATGGCAA


* Fusion transcript sequences (Full-length transcript).
>In-frame_ITPK1_ENST00000267615_chr14_93581414_-_SPINK4_ENST00000379725_chr9_33218363_+_802nt
GGCCGAGGAGGAAGTGGCGGCGGCGGCGGCGGGACTGCGCGCCCCAGCTCCGATCCCCGTTCCGCGTCCCCGCCGCCGGGAGGAGGTGCC
CACTCGCTCGCGGCGCGCGCCGGCCGCCAGACTCGGCCTGTGGGCGATTTCCTCCGGACCCAGGCTCCCCGCCCGAGGAGGAAGATGCAG
ACCTTTCTGAAAGGGAAGAGAGTTGGCTACTGGCTGAGCGAGAAGAAAATCAAGAAGCTGAATTTCCAGGCCTTCGCCGAGCTGTGCAGT
TCTGCAAATGGGAGGTACTGGAAAGAACGTGAGGGCAGGAGGAGAGATATGCCAGGGTATTTATTGCCCTAGCTCCCCCTCTGCCAGACC
ACAGGTAGAATAGCAAGAAGTCTACATCCTGATGATCCTGGGCATTGGGAGCTCACCTCACCTTCTCTGGACTCTGGAGGGCACACACAT
ATGGTCCCTGCTGGGGGATGCTTCGCACACAGACCGTCTTCCAGAGGCAGGGGCAGGGAAACTGCTGTCAGAAGTGCCAGTGGCAGCAGG
AAAGCTCCCTTTCTCAAGAATGCCCATCTGTGAACACATGGTAGAGTCTCCAACCTGTTCCCAGATGTCCAACCTGGTCTGCGGCACTGA
TGGGCTCACATATACGAATGAATGCCAGCTCTGCTTGGCCCGGATAAAAACCAAACAGGACATCCAGATCATGAAAGATGGCAAATGCTG

>In-frame_ITPK1_ENST00000354313_chr14_93581414_-_SPINK4_ENST00000379725_chr9_33218363_+_917nt
CGCCGCCGCGGGCTCAAGCGGGGCGGCCGGGCCAGCGCGGGGCGGCGGCGGGCAGGGGCGGCGAGTGCGCGGGCGCTCGCCGCCGCCCTT
CTCGGCGGGCAGCGCGCGAGGACCAGGCCGAGGAGGAAGTGGCGGCGGCGGCGGCGGGACTGCGCGCCCCAGCTCCGATCCCCGTTCCGC
GTCCCCGCCGCCGGGAGGAGGTGCCCACTCGCTCGCGGCGCGCGCCGGCCGCCAGACTCGGCCTGTGGGCGATTTCCTCCGGACCCAGGC
TCCCCGCCCGAGGAGGAAGATGCAGACCTTTCTGAAAGGGAAGAGAGTTGGCTACTGGCTGAGCGAGAAGAAAATCAAGAAGCTGAATTT
CCAGGCCTTCGCCGAGCTGTGCAGTTCTGCAAATGGGAGGTACTGGAAAGAACGTGAGGGCAGGAGGAGAGATATGCCAGGGTATTTATT
GCCCTAGCTCCCCCTCTGCCAGACCACAGGTAGAATAGCAAGAAGTCTACATCCTGATGATCCTGGGCATTGGGAGCTCACCTCACCTTC
TCTGGACTCTGGAGGGCACACACATATGGTCCCTGCTGGGGGATGCTTCGCACACAGACCGTCTTCCAGAGGCAGGGGCAGGGAAACTGC
TGTCAGAAGTGCCAGTGGCAGCAGGAAAGCTCCCTTTCTCAAGAATGCCCATCTGTGAACACATGGTAGAGTCTCCAACCTGTTCCCAGA
TGTCCAACCTGGTCTGCGGCACTGATGGGCTCACATATACGAATGAATGCCAGCTCTGCTTGGCCCGGATAAAAACCAAACAGGACATCC
AGATCATGAAAGATGGCAAATGCTGATCCCACAGGAGCACCTCAAGCCATGAAGTGTCAGCTGGAGAACAGTGGTGGGCATGGAGAGGAT


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FusionGenePPI for ITPK1_SPINK4


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
ITPK1TRAF2, GPS1, TP53, JUN, ITPK1, NFKBIA, MOV10, TRAC, CRYZL1, SCN2B, DNAAF5, MAPK1, CDC5L, TRIM25SPINK4LAMA3, HTRA1, MINPP1, MICA, PLXNA2, SPPL2B, CERCAM, TMEM67


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 ITPK1_SPINK4


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 ITPK1_SPINK4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITPK1C0027626Neoplasm Invasiveness1CTD_human