FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 25812

FusionGeneSummary for PAK1_ERG

check button Fusion gene summary
Fusion gene informationFusion gene name: PAK1_ERG
Fusion gene ID: 25812
HgeneTgene
Gene symbol

PAK1

ERG

Gene ID

5585

2078

Gene nameprotein kinase N1ERG, ETS transcription factor
SynonymsDBK|PAK-1|PAK1|PKN|PKN-ALPHA|PRK1|PRKCL1erg-3|p55
Cytomap

19p13.12

21q22.2

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase N1protease-activated kinase 1protein kinase C-like 1protein kinase C-like PKNprotein kinase C-related kinase 1protein kinase PKN-alphaserine-threonine kinase Nserine/threonine protein kinase Ntranscriptional regulator ERGFUS/ERG fusion proteinTMPRSS2/ERG fusionerythroblast transformation-specific transcription factor ERG variant 10ets-relatedtranscriptional regulator ERG (transforming protein ERG)v-ets avian erythroblastosis virus E26 on
Modification date2018052320180523
UniProtAcc

Q13153

P11308

Ensembl transtripts involved in fusion geneENST00000356341, ENST00000530617, 
ENST00000278568, ENST00000528203, 
ENST00000525542, 
ENST00000398907, 
ENST00000398905, ENST00000288319, 
ENST00000398897, ENST00000398911, 
ENST00000398910, ENST00000417133, 
ENST00000442448, ENST00000453032, 
ENST00000398919, ENST00000429727, 
ENST00000485493, 
Fusion gene scores* DoF score21 X 8 X 8=134413 X 15 X 8=1560
# samples 23226
** MAII scorelog2(23/1344*10)=-2.54682737183439
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(226/1560*10)=0.53477674355294
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PAK1 [Title/Abstract] AND ERG [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
HgenePAK1

GO:0006357

regulation of transcription by RNA polymerase II

12514133

HgenePAK1

GO:0006468

protein phosphorylation

17332740

HgenePAK1

GO:0035407

histone H3-T11 phosphorylation

18066052

TgeneERG

GO:0045944

positive regulation of transcription by RNA polymerase II

18195090|23913826


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
TCGARVBRCATCGA-LL-A441-01APAK1chr11

77184597

-ERGchr21

39956869

-
* 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-intronENST00000356341ENST00000398907PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-intronENST00000356341ENST00000398905PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-intronENST00000356341ENST00000288319PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-intronENST00000356341ENST00000398897PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-intronENST00000356341ENST00000398911PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-5UTRENST00000356341ENST00000398910PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-5UTRENST00000356341ENST00000417133PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-5UTRENST00000356341ENST00000442448PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-intronENST00000356341ENST00000453032PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-5UTRENST00000356341ENST00000398919PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-intronENST00000356341ENST00000429727PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-5UTRENST00000356341ENST00000485493PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000530617ENST00000398907PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000530617ENST00000398905PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000530617ENST00000288319PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000530617ENST00000398897PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000530617ENST00000398911PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000530617ENST00000398910PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000530617ENST00000417133PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000530617ENST00000442448PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000530617ENST00000453032PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000530617ENST00000398919PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000530617ENST00000429727PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000530617ENST00000485493PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-intronENST00000278568ENST00000398907PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-intronENST00000278568ENST00000398905PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-intronENST00000278568ENST00000288319PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-intronENST00000278568ENST00000398897PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-intronENST00000278568ENST00000398911PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-5UTRENST00000278568ENST00000398910PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-5UTRENST00000278568ENST00000417133PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-5UTRENST00000278568ENST00000442448PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-intronENST00000278568ENST00000453032PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-5UTRENST00000278568ENST00000398919PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-intronENST00000278568ENST00000429727PAK1chr11

77184597

-ERGchr21

39956869

-
5UTR-5UTRENST00000278568ENST00000485493PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000528203ENST00000398907PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000528203ENST00000398905PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000528203ENST00000288319PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000528203ENST00000398897PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000528203ENST00000398911PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000528203ENST00000398910PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000528203ENST00000417133PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000528203ENST00000442448PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000528203ENST00000453032PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000528203ENST00000398919PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000528203ENST00000429727PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000528203ENST00000485493PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000525542ENST00000398907PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000525542ENST00000398905PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000525542ENST00000288319PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000525542ENST00000398897PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000525542ENST00000398911PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000525542ENST00000398910PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000525542ENST00000417133PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000525542ENST00000442448PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000525542ENST00000453032PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000525542ENST00000398919PAK1chr11

77184597

-ERGchr21

39956869

-
intron-intronENST00000525542ENST00000429727PAK1chr11

77184597

-ERGchr21

39956869

-
intron-5UTRENST00000525542ENST00000485493PAK1chr11

77184597

-ERGchr21

39956869

-

Top

FusionProtFeatures for PAK1_ERG


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PAK1

Q13153

ERG

P11308

Protein kinase involved in intracellular signalingpathways downstream of integrins and receptor-type kinases thatplays an important role in cytoskeleton dynamics, in celladhesion, migration, proliferation, apoptosis, mitosis, and invesicle-mediated transport processes. Can directly phosphorylateBAD and protects cells against apoptosis. Activated by interactionwith CDC42 and RAC1. Functions as GTPase effector that links theRho-related GTPases CDC42 and RAC1 to the JNK MAP kinase pathway.Phosphorylates and activates MAP2K1, and thereby mediatesactivation of downstream MAP kinases. Involved in thereorganization of the actin cytoskeleton, actin stress fibers andof focal adhesion complexes. Phosphorylates the tubulin chaperoneTBCB and thereby plays a role in the regulation of microtubulebiogenesis and organization of the tubulin cytoskeleton. Plays arole in the regulation of insulin secretion in response toelevated glucose levels. Part of a ternary complex that containsPAK1, DVL1 and MUSK that is important for MUSK-dependentregulation of AChR clustering during the formation of theneuromuscular junction (NMJ). Activity is inhibited in cellsundergoing apoptosis, potentially due to binding of CDC2L1 andCDC2L2. Phosphorylates MYL9/MLC2. Phosphorylates RAF1 at 'Ser-338'and 'Ser-339' resulting in: activation of RAF1, stimulation ofRAF1 translocation to mitochondria, phosphorylation of BAD byRAF1, and RAF1 binding to BCL2. Phosphorylates SNAI1 at 'Ser-246'promoting its transcriptional repressor activity by increasing itsaccumulation in the nucleus. In podocytes, promotes NR3C2 nuclearlocalization. Required for atypical chemokine receptor ACKR2-induced phosphorylation of LIMK1 and cofilin (CFL1) and for theup-regulation of ACKR2 from endosomal compartment to cellmembrane, increasing its efficiency in chemokine uptake anddegradation. In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3, maybe through CFL1phosphorylation and inactivation. Plays a role in RUFY3-mediatedfacilitating gastric cancer cells migration and invasion(PubMed:25766321). {ECO:0000269|PubMed:10551809,ECO:0000269|PubMed:11733498, ECO:0000269|PubMed:12624090,ECO:0000269|PubMed:12876277, ECO:0000269|PubMed:14585966,ECO:0000269|PubMed:15611088, ECO:0000269|PubMed:15831477,ECO:0000269|PubMed:15833848, ECO:0000269|PubMed:16278681,ECO:0000269|PubMed:17726028, ECO:0000269|PubMed:17989089,ECO:0000269|PubMed:22669945, ECO:0000269|PubMed:23633677,ECO:0000269|PubMed:25766321, ECO:0000269|PubMed:8805275,ECO:0000269|PubMed:9032240, ECO:0000269|PubMed:9395435,ECO:0000269|PubMed:9528787}. Transcriptional regulator. May participate intranscriptional regulation through the recruitment of SETDB1histone methyltransferase and subsequent modification of localchromatin structure.

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


Top

FusionGeneSequence for PAK1_ERG


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).

Top

FusionGenePPI for PAK1_ERG


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
PAK1ARHGEF2, ARPC1B, AKT1, RAC1, CDC42, CDK11A, ERBB2, ABI3, DYNLL1, PKLR, PLCG1, PAK1IP1, LIMK1, CDK5, RAF1, HGS, NCK1, ARHGEF7, MYLK, BAIAP2, NCK2, BMX, RHOJ, PAK1, SH3KBP1, HSP90AA1, YWHAG, YWHAZ, DYRK1B, ZBTB18, ZC3H7A, ZNF823, ZNF83, MYNN, C5orf42, ZNF418, HIST1H4A, TGM2, ARHGEF6, ELF3, GNB1, MAP3K1, MYO6, TGFBR1, TGFBR2, APP, CRIPAK, CHORDC1, ESR1, BAD, HIST1H3A, LYN, DYNLL2, PAK2, FBXO28, GIT1, SORBS3, BRSK1, EGFR, PYCARD, GIT2, H2AFX, SLC25A41, TAS2R41, ILKAP, PPAT, RELA, RHOU, SNW1, ICAM1, LPXN, FSD1, OR2K2, SOX2, SETX, FGB, PPM1A, PPP2CA, PPP1CA, MAPK14ERGJUN, ETS2, AR, HSPA4, HSPA8, NEDD4, PRKDC, XRCC5, XRCC6, PARP1, XRCC4, NME1, DDX3X, PCBP1, HNRNPA2B1, DDX5, TRIM21, TPM1, HNRNPM, EIF2S1, RPLP0, PRPF8, RPL7A, HNRNPDL, TUBB, CAD, ACTB, ATP5A1, RPS18, HNRNPU, SPTAN1, DNAJA1, DNAJA2, DNAJA4, APP, USP9X, ADAR, CDC5L, CLTC, DDX21, DDX23, DKC1, EEF1A2, ELAVL1, FBL, HNRNPA1, HNRNPAB, HNRNPC, HNRNPD, HNRNPF, HNRNPH1, HNRNPH3, HNRNPUL1, HNRNPUL2, HSPD1, ILF2, ILF3, LANCL1, MATR3, NCL, NOLC1, NONO, NPM1, NUMA1, POLR2A, PRPF40A, PUF60, RCC2, SF3B1, SF3B2, SF3B3, SFPQ, SNRNP200, SYN1, TOP1, TOP2B, XRN2, CUL3, SPOP, TRIM25, UBR5, TRIM33, RING1, UBR4, RNF2, TRIP12, HUWE1, STUB1, UHRF1, HERC2, BRD4, BRD2, BRD3


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


Top

RelatedDrugs for PAK1_ERG


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for PAK1_ERG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePAK1C0007134Renal Cell Carcinoma1CTD_human
HgenePAK1C0033687Proteinuria1CTD_human
HgenePAK1C1458155Mammary Neoplasms1CTD_human
TgeneERGC0033578Prostatic Neoplasms5CTD_human
TgeneERGC0023418leukemia1CTD_human
TgeneERGC0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneERGC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human