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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: 25838

FusionGeneSummary for PAK4_B9D1

check button Fusion gene summary
Fusion gene informationFusion gene name: PAK4_B9D1
Fusion gene ID: 25838
HgeneTgene
Gene symbol

PAK4

B9D1

Gene ID

10298

27077

Gene namep21 (RAC1) activated kinase 4B9 domain containing 1
Synonyms-B9|EPPB9|JBTS27|MKS9|MKSR1
Cytomap

19q13.2

17p11.2

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase PAK 4p21 protein (Cdc42/Rac)-activated kinase 4p21(CDKN1A)-activated kinase 4protein kinase related to S. cerevisiae STE20, effector for Cdc42HsB9 domain-containing protein 1B9 protein domain 1MKS1-related protein 1endothelial precursor protein B9
Modification date2018052320180522
UniProtAcc

O96013

Q9UPM9

Ensembl transtripts involved in fusion geneENST00000599470, ENST00000321944, 
ENST00000358301, ENST00000597766, 
ENST00000593690, ENST00000599386, 
ENST00000435673, ENST00000360442, 
ENST00000575403, ENST00000477478, 
ENST00000468679, ENST00000461069, 
ENST00000395615, ENST00000261499, 
ENST00000395616, ENST00000268841, 
Fusion gene scores* DoF score13 X 4 X 6=3123 X 2 X 3=18
# samples 133
** MAII scorelog2(13/312*10)=-1.26303440583379
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: PAK4 [Title/Abstract] AND B9D1 [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
TCGARVPAADTCGA-L1-A7W4-01APAK4chr19

39616559

+B9D1chr17

19251193

-
* 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
5UTR-3CDSENST00000599470ENST00000575403PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-3CDSENST00000599470ENST00000477478PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000599470ENST00000468679PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000599470ENST00000461069PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000599470ENST00000395615PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000599470ENST00000261499PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000599470ENST00000395616PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000599470ENST00000268841PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-3CDSENST00000321944ENST00000575403PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-3CDSENST00000321944ENST00000477478PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000321944ENST00000468679PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000321944ENST00000461069PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000321944ENST00000395615PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000321944ENST00000261499PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000321944ENST00000395616PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000321944ENST00000268841PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-3CDSENST00000358301ENST00000575403PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-3CDSENST00000358301ENST00000477478PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000358301ENST00000468679PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000358301ENST00000461069PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000358301ENST00000395615PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000358301ENST00000261499PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000358301ENST00000395616PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000358301ENST00000268841PAK4chr19

39616559

+B9D1chr17

19251193

-
3UTR-3CDSENST00000597766ENST00000575403PAK4chr19

39616559

+B9D1chr17

19251193

-
3UTR-3CDSENST00000597766ENST00000477478PAK4chr19

39616559

+B9D1chr17

19251193

-
3UTR-intronENST00000597766ENST00000468679PAK4chr19

39616559

+B9D1chr17

19251193

-
3UTR-intronENST00000597766ENST00000461069PAK4chr19

39616559

+B9D1chr17

19251193

-
3UTR-intronENST00000597766ENST00000395615PAK4chr19

39616559

+B9D1chr17

19251193

-
3UTR-intronENST00000597766ENST00000261499PAK4chr19

39616559

+B9D1chr17

19251193

-
3UTR-intronENST00000597766ENST00000395616PAK4chr19

39616559

+B9D1chr17

19251193

-
3UTR-intronENST00000597766ENST00000268841PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-3CDSENST00000593690ENST00000575403PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-3CDSENST00000593690ENST00000477478PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000593690ENST00000468679PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000593690ENST00000461069PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000593690ENST00000395615PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000593690ENST00000261499PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000593690ENST00000395616PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000593690ENST00000268841PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-3CDSENST00000599386ENST00000575403PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-3CDSENST00000599386ENST00000477478PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000599386ENST00000468679PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000599386ENST00000461069PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000599386ENST00000395615PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000599386ENST00000261499PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000599386ENST00000395616PAK4chr19

39616559

+B9D1chr17

19251193

-
5UTR-intronENST00000599386ENST00000268841PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-3CDSENST00000435673ENST00000575403PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-3CDSENST00000435673ENST00000477478PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-intronENST00000435673ENST00000468679PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-intronENST00000435673ENST00000461069PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-intronENST00000435673ENST00000395615PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-intronENST00000435673ENST00000261499PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-intronENST00000435673ENST00000395616PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-intronENST00000435673ENST00000268841PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-3CDSENST00000360442ENST00000575403PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-3CDSENST00000360442ENST00000477478PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-intronENST00000360442ENST00000468679PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-intronENST00000360442ENST00000461069PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-intronENST00000360442ENST00000395615PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-intronENST00000360442ENST00000261499PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-intronENST00000360442ENST00000395616PAK4chr19

39616559

+B9D1chr17

19251193

-
intron-intronENST00000360442ENST00000268841PAK4chr19

39616559

+B9D1chr17

19251193

-

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FusionProtFeatures for PAK4_B9D1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PAK4

O96013

B9D1

Q9UPM9

Serine/threonine protein kinase that plays a role in avariety of different signaling pathways including cytoskeletonregulation, cell migration, growth, proliferation or cellsurvival. Activation by various effectors including growth factorreceptors or active CDC42 and RAC1 results in a conformationalchange and a subsequent autophosphorylation on several serineand/or threonine residues. Phosphorylates and inactivates theprotein phosphatase SSH1, leading to increased inhibitoryphosphorylation of the actin binding/depolymerizing factorcofilin. Decreased cofilin activity may lead to stabilization ofactin filaments. Phosphorylates LIMK1, a kinase that also inhibitsthe activity of cofilin. Phosphorylates integrin beta5/ITGB5 andthus regulates cell motility. Phosphorylates ARHGEF2 and activatesthe downstream target RHOA that plays a role in the regulation ofassembly of focal adhesions and actin stress fibers. Stimulatescell survival by phosphorylating the BCL2 antagonist of cell deathBAD. Alternatively, inhibits apoptosis by preventing caspase-8binding to death domain receptors in a kinase independent manner.Plays a role in cell-cycle progression by controlling levels ofthe cell-cycle regulatory protein CDKN1A and by phosphorylatingRAN. {ECO:0000269|PubMed:11278822, ECO:0000269|PubMed:11313478,ECO:0000269|PubMed:14560027, ECO:0000269|PubMed:15660133,ECO:0000269|PubMed:20507994, ECO:0000269|PubMed:20631255,ECO:0000269|PubMed:20805321, ECO:0000269|PubMed:26607847}. Component of the tectonic-like complex, a complexlocalized at the transition zone of primary cilia and acting as abarrier that prevents diffusion of transmembrane proteins betweenthe cilia and plasma membranes. Required for ciliogenesis andsonic hedgehog/SHH signaling (By similarity). {ECO:0000250}.

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 PAK4_B9D1


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 PAK4_B9D1


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
PAK4LRRK1, YWHAG, YWHAQ, CDC42, YWHAZ, SFN, DLST, LIMK1, RAC1, ITGB5, RAN, TERF1, POT1, APP, YWHAE, FBXO25, SRPK2, SRPK1, LATS2, YWHAB, SH3RF2, HECW2, PAK6, PAK7, LRRC16A, ARHGEF11, SUPT5H, GGNBP2, KLHL42, TMPRSS11A, DDX6, NAA20, NAA25, ABL1, PPM1B, NTRK1, TMEM17, XPO1, RCC2, RHOU, PAK4, PXN, VCL, RHOV, HIST1H1A, SNW1, CDC5L, MMP2, ITGB3, ITGAV, CDH1, EGFR, PPM1A, PTPN4, PTPN7, STYX, CDK6, MTUS2, KCTD3, KIF13B, CBY1, RAB3IP, G3BP1B9D1LIG4, EXOSC10, TMEM231, IFI30, CCT2, CCT3, CCT4, CCT5, CCT6A, CCT7, CCT8, COQ6, MTR, PDCL3, PFDN4, TCP1, TXNDC9, INVS, RUVBL1, B9D2, MKS1, CC2D2A, TMEM17, POSTN


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 PAK4_B9D1


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 PAK4_B9D1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneB9D1C0023893Liver Cirrhosis, Experimental1CTD_human