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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: 25844

FusionGeneSummary for PAK4_MALL

check button Fusion gene summary
Fusion gene informationFusion gene name: PAK4_MALL
Fusion gene ID: 25844
HgeneTgene
Gene symbol

PAK4

MALL

Gene ID

10298

7851

Gene namep21 (RAC1) activated kinase 4mal, T cell differentiation protein like
Synonyms-BENE
Cytomap

19q13.2

2q13

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 Cdc42HsMAL-like protein
Modification date2018052320180523
UniProtAcc

O96013

Q13021

Ensembl transtripts involved in fusion geneENST00000599470, ENST00000321944, 
ENST00000358301, ENST00000597766, 
ENST00000593690, ENST00000599386, 
ENST00000435673, ENST00000360442, 
ENST00000272462, ENST00000427178, 
Fusion gene scores* DoF score13 X 4 X 6=3124 X 4 X 2=32
# samples 134
** MAII scorelog2(13/312*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PAK4 [Title/Abstract] AND MALL [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
ChiTaRS3.1BQ016010PAK4chr19

39669993

-MALLchr2

110842708

+
* 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-3UTRENST00000599470ENST00000272462PAK4chr19

39669993

-MALLchr2

110842708

+
intron-3UTRENST00000599470ENST00000427178PAK4chr19

39669993

-MALLchr2

110842708

+
3UTR-3UTRENST00000321944ENST00000272462PAK4chr19

39669993

-MALLchr2

110842708

+
3UTR-3UTRENST00000321944ENST00000427178PAK4chr19

39669993

-MALLchr2

110842708

+
3UTR-3UTRENST00000358301ENST00000272462PAK4chr19

39669993

-MALLchr2

110842708

+
3UTR-3UTRENST00000358301ENST00000427178PAK4chr19

39669993

-MALLchr2

110842708

+
intron-3UTRENST00000597766ENST00000272462PAK4chr19

39669993

-MALLchr2

110842708

+
intron-3UTRENST00000597766ENST00000427178PAK4chr19

39669993

-MALLchr2

110842708

+
3UTR-3UTRENST00000593690ENST00000272462PAK4chr19

39669993

-MALLchr2

110842708

+
3UTR-3UTRENST00000593690ENST00000427178PAK4chr19

39669993

-MALLchr2

110842708

+
3UTR-3UTRENST00000599386ENST00000272462PAK4chr19

39669993

-MALLchr2

110842708

+
3UTR-3UTRENST00000599386ENST00000427178PAK4chr19

39669993

-MALLchr2

110842708

+
3UTR-3UTRENST00000435673ENST00000272462PAK4chr19

39669993

-MALLchr2

110842708

+
3UTR-3UTRENST00000435673ENST00000427178PAK4chr19

39669993

-MALLchr2

110842708

+
3UTR-3UTRENST00000360442ENST00000272462PAK4chr19

39669993

-MALLchr2

110842708

+
3UTR-3UTRENST00000360442ENST00000427178PAK4chr19

39669993

-MALLchr2

110842708

+

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FusionProtFeatures for PAK4_MALL


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

O96013

MALL

Q13021

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}.

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_MALL


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_MALL


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 PAK4_MALL


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_MALL


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