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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: 39846

FusionGeneSummary for TSPAN31_PAK3

check button Fusion gene summary
Fusion gene informationFusion gene name: TSPAN31_PAK3
Fusion gene ID: 39846
HgeneTgene
Gene symbol

TSPAN31

PAK3

Gene ID

6302

8874

Gene nametetraspanin 31Rho guanine nucleotide exchange factor 7
SynonymsSASBETA-PIX|COOL-1|COOL1|Nbla10314|P50|P50BP|P85|P85COOL1|P85SPR|PAK3|PIXB
Cytomap

12q14.1

13q34

Type of geneprotein-codingprotein-coding
Descriptiontetraspanin-31sarcoma-amplified sequencetransmembrane 4 proteintspan-31rho guanine nucleotide exchange factor 7PAK-interacting exchange factor betaRho guanine nucleotide exchange factor (GEF) 7SH3 domain-containing proline-rich protein
Modification date2018052320180522
UniProtAcc

Q12999

O75914

Ensembl transtripts involved in fusion geneENST00000553221, ENST00000257910, 
ENST00000547992, ENST00000547472, 
ENST00000425146, ENST00000446737, 
ENST00000372010, ENST00000519681, 
ENST00000372007, ENST00000518291, 
ENST00000484442, ENST00000262836, 
ENST00000360648, ENST00000417227, 
Fusion gene scores* DoF score10 X 10 X 6=6003 X 3 X 2=18
# samples 133
** MAII scorelog2(13/600*10)=-2.20645087746743
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TSPAN31 [Title/Abstract] AND PAK3 [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
TgenePAK3

GO:0043547

positive regulation of GTPase activity

21048939


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
ChiTaRS3.1AB209699TSPAN31chr12

58141952

+PAK3chrX

110382559

-
* 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-intronENST00000553221ENST00000425146TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000553221ENST00000446737TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000553221ENST00000372010TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000553221ENST00000519681TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000553221ENST00000372007TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000553221ENST00000518291TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000553221ENST00000484442TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000553221ENST00000262836TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000553221ENST00000360648TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000553221ENST00000417227TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000257910ENST00000425146TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000257910ENST00000446737TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000257910ENST00000372010TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000257910ENST00000519681TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000257910ENST00000372007TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000257910ENST00000518291TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000257910ENST00000484442TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000257910ENST00000262836TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000257910ENST00000360648TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000257910ENST00000417227TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000547992ENST00000425146TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000547992ENST00000446737TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000547992ENST00000372010TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000547992ENST00000519681TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000547992ENST00000372007TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000547992ENST00000518291TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000547992ENST00000484442TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000547992ENST00000262836TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000547992ENST00000360648TSPAN31chr12

58141952

+PAK3chrX

110382559

-
3UTR-intronENST00000547992ENST00000417227TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000547472ENST00000425146TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000547472ENST00000446737TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000547472ENST00000372010TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000547472ENST00000519681TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000547472ENST00000372007TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000547472ENST00000518291TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000547472ENST00000484442TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000547472ENST00000262836TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000547472ENST00000360648TSPAN31chr12

58141952

+PAK3chrX

110382559

-
intron-intronENST00000547472ENST00000417227TSPAN31chr12

58141952

+PAK3chrX

110382559

-

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FusionProtFeatures for TSPAN31_PAK3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TSPAN31

Q12999

PAK3

O75914


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 TSPAN31_PAK3


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 TSPAN31_PAK3


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 TSPAN31_PAK3


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 TSPAN31_PAK3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePAK3C0796237Mental Retardation, X-Linked 302CTD_human;UNIPROT