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Fusion gene ID: 25834 |
FusionGeneSummary for PAK2_PIGX |
Fusion gene summary |
Fusion gene information | Fusion gene name: PAK2_PIGX | Fusion gene ID: 25834 | Hgene | Tgene | Gene symbol | PAK2 | PIGX | Gene ID | 5586 | 54965 |
Gene name | protein kinase N2 | phosphatidylinositol glycan anchor biosynthesis class X | |
Synonyms | PAK2|PRK2|PRKCL2|PRO2042|Pak-2|STK7 | PIG-X | |
Cytomap | 1p22.2 | 3q29 | |
Type of gene | protein-coding | protein-coding | |
Description | serine/threonine-protein kinase N2PKN gammacardiolipin-activated protein kinase Pak2protein kinase C-like 2protein-kinase C-related kinase 2 | phosphatidylinositol-glycan biosynthesis class X proteinGPI-mannosyltransferase subunit | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q13177 | Q8TBF5 | |
Ensembl transtripts involved in fusion gene | ENST00000327134, | ENST00000314118, ENST00000421265, ENST00000541663, ENST00000495440, | |
Fusion gene scores | * DoF score | 9 X 7 X 10=630 | 4 X 3 X 4=48 |
# samples | 13 | 6 | |
** MAII score | log2(13/630*10)=-2.27684020535882 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/48*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: PAK2 [Title/Abstract] AND PIGX [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PAK2 | GO:0006468 | protein phosphorylation | 17332740 |
Hgene | PAK2 | GO:0010631 | epithelial cell migration | 21754995 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | BRCA | TCGA-C8-A26W-01A | PAK2 | chr3 | 196467028 | + | PIGX | chr3 | 196443729 | + |
TCGA | LD | LIHC | TCGA-BC-A10R-01A | PAK2 | chr3 | 196509704 | + | PIGX | chr3 | 196460630 | + |
TCGA | LD | PRAD | TCGA-EJ-5525-01A | PAK2 | chr3 | 196467028 | + | PIGX | chr3 | 196443729 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-5UTR | ENST00000327134 | ENST00000314118 | PAK2 | chr3 | 196467028 | + | PIGX | chr3 | 196443729 | + |
5UTR-5UTR | ENST00000327134 | ENST00000421265 | PAK2 | chr3 | 196467028 | + | PIGX | chr3 | 196443729 | + |
5UTR-5UTR | ENST00000327134 | ENST00000541663 | PAK2 | chr3 | 196467028 | + | PIGX | chr3 | 196443729 | + |
5UTR-3UTR | ENST00000327134 | ENST00000495440 | PAK2 | chr3 | 196467028 | + | PIGX | chr3 | 196443729 | + |
Frame-shift | ENST00000327134 | ENST00000314118 | PAK2 | chr3 | 196509704 | + | PIGX | chr3 | 196460630 | + |
5CDS-intron | ENST00000327134 | ENST00000421265 | PAK2 | chr3 | 196509704 | + | PIGX | chr3 | 196460630 | + |
5CDS-intron | ENST00000327134 | ENST00000541663 | PAK2 | chr3 | 196509704 | + | PIGX | chr3 | 196460630 | + |
5CDS-intron | ENST00000327134 | ENST00000495440 | PAK2 | chr3 | 196509704 | + | PIGX | chr3 | 196460630 | + |
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FusionProtFeatures for PAK2_PIGX |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PAK2 | PIGX |
Serine/threonine protein kinase that plays a role in avariety of different signaling pathways including cytoskeletonregulation, cell motility, cell cycle progression, apoptosis orproliferation. Acts as downstream effector of the small GTPasesCDC42 and RAC1. Activation by the binding of active CDC42 and RAC1results in a conformational change and a subsequentautophosphorylation on several serine and/or threonine residues.Full-length PAK2 stimulates cell survival and cell growth.Phosphorylates MAPK4 and MAPK6 and activates the downstream targetMAPKAPK5, a regulator of F-actin polymerization and cellmigration. Phosphorylates JUN and plays an important role in EGF-induced cell proliferation. Phosphorylates many other substratesincluding histone H4 to promote assembly of H3.3 and H4 intonucleosomes, BAD, ribosomal protein S6, or MBP. Additionally,associates with ARHGEF7 and GIT1 to perform kinase-independentfunctions such as spindle orientation control during mitosis. Onthe other hand, apoptotic stimuli such as DNA damage lead tocaspase-mediated cleavage of PAK2, generating PAK-2p34, an activep34 fragment that translocates to the nucleus and promotescellular apoptosis involving the JNK signaling pathway. Caspase-activated PAK2 phosphorylates MKNK1 and reduces cellulartranslation. {ECO:0000269|PubMed:12853446,ECO:0000269|PubMed:15234964, ECO:0000269|PubMed:16617111,ECO:0000269|PubMed:19923322, ECO:0000269|PubMed:21177766,ECO:0000269|PubMed:21317288, ECO:0000269|PubMed:21724829,ECO:0000269|PubMed:9171063}. | Essential component of glycosylphosphatidylinositol-mannosyltransferase 1 which transfers the first of the 4 mannosesin the GPI-anchor precursors during GPI-anchor biosynthesis.Probably acts by stabilizing the mannosyltransferase PIGM (Bysimilarity). {ECO:0000250}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PAK2_PIGX |
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 PAK2_PIGX |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PAK2 | GIT1, GIT2, MYH10, MCM3, SH3KBP1, CDC42, ABI3, MYL2, DOCK2, RAC2, ABL1, RAC1, DST, EP300, BRAF, ELAVL1, HIST1H4F, HCK, LCK, SRC, SH3RF3, SORBS3, ARHGEF7, APP, MYC, HSPA5, PAK2, RIOK3, G6PD, NPEPPS, CAPNS1, CKB, EEF2, ERP44, ISOC1, LDHB, PAFAH1B1, SCLY, YWHAB, YWHAH, YWHAZ, PFAS, SFN, TGM2, UBE2R2, UBFD1, YWHAE, YWHAG, ZFYVE19, PAK1, RHOJ, FSD1, OR10H3, SOX2, NCK2, PLK2, GDI1, MYO6, ILKAP, MAPK3, PLAA, PSME1, THOC3, PDIA3, STAT1, NTRK1, SCLT1, CDKN2AIP, SKP1, FBXO28, CASP3, MKNK1, CDH1, ARHGEF6, SNRNP27, OCRL, ICAM1, FGB, KIFAP3, LPXN, USP47, PPM1A, MAPK14 | PIGX | FBXW11, CHRM3 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PAK2_PIGX |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PAK2_PIGX |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PAK2 | C0033687 | Proteinuria | 1 | CTD_human |
Hgene | PAK2 | C0036341 | Schizophrenia | 1 | CTD_human |