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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: 42363

FusionGeneSummary for YPEL2_PAK1

check button Fusion gene summary
Fusion gene informationFusion gene name: YPEL2_PAK1
Fusion gene ID: 42363
HgeneTgene
Gene symbol

YPEL2

PAK1

Gene ID

388403

5585

Gene nameyippee like 2protein kinase N1
SynonymsFKSG4DBK|PAK-1|PAK1|PKN|PKN-ALPHA|PRK1|PRKCL1
Cytomap

17q22

19p13.12

Type of geneprotein-codingprotein-coding
Descriptionprotein yippee-like 2DiGeorge syndrome-related proteinserine/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 N
Modification date2018051920180523
UniProtAcc

Q96QA6

Q13153

Ensembl transtripts involved in fusion geneENST00000581865, ENST00000312655, 
ENST00000585166, 		ENST00000356341, 
ENST00000530617, ENST00000278568, 
ENST00000528203, ENST00000525542, 
Fusion gene scores* DoF score9 X 5 X 4=18012 X 9 X 6=648
# samples 813
** MAII scorelog2(8/180*10)=-1.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/648*10)=-2.31748218985617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: YPEL2 [Title/Abstract] AND PAK1 [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
TgenePAK1

GO:0006357

regulation of transcription by RNA polymerase II

12514133

TgenePAK1

GO:0006468

protein phosphorylation

17332740

TgenePAK1

GO:0035407

histone H3-T11 phosphorylation

18066052


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
TCGALDBRCATCGA-BH-A18R-01AYPEL2chr17

57474849

+PAK1chr11

77047327

-
* 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-3CDSENST00000581865ENST00000356341YPEL2chr17

57474849

+PAK1chr11

77047327

-
intron-3CDSENST00000581865ENST00000530617YPEL2chr17

57474849

+PAK1chr11

77047327

-
intron-3CDSENST00000581865ENST00000278568YPEL2chr17

57474849

+PAK1chr11

77047327

-
intron-3CDSENST00000581865ENST00000528203YPEL2chr17

57474849

+PAK1chr11

77047327

-
intron-5UTRENST00000581865ENST00000525542YPEL2chr17

57474849

+PAK1chr11

77047327

-
3UTR-3CDSENST00000312655ENST00000356341YPEL2chr17

57474849

+PAK1chr11

77047327

-
3UTR-3CDSENST00000312655ENST00000530617YPEL2chr17

57474849

+PAK1chr11

77047327

-
3UTR-3CDSENST00000312655ENST00000278568YPEL2chr17

57474849

+PAK1chr11

77047327

-
3UTR-3CDSENST00000312655ENST00000528203YPEL2chr17

57474849

+PAK1chr11

77047327

-
3UTR-5UTRENST00000312655ENST00000525542YPEL2chr17

57474849

+PAK1chr11

77047327

-
intron-3CDSENST00000585166ENST00000356341YPEL2chr17

57474849

+PAK1chr11

77047327

-
intron-3CDSENST00000585166ENST00000530617YPEL2chr17

57474849

+PAK1chr11

77047327

-
intron-3CDSENST00000585166ENST00000278568YPEL2chr17

57474849

+PAK1chr11

77047327

-
intron-3CDSENST00000585166ENST00000528203YPEL2chr17

57474849

+PAK1chr11

77047327

-
intron-5UTRENST00000585166ENST00000525542YPEL2chr17

57474849

+PAK1chr11

77047327

-

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FusionProtFeatures for YPEL2_PAK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
YPEL2

Q96QA6

PAK1

Q13153

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}.

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 YPEL2_PAK1


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 YPEL2_PAK1


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
YPEL2SRPK2, SRPK1, TRIM25PAK1ARHGEF2, 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, MAPK14


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 YPEL2_PAK1


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 YPEL2_PAK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePAK1C0007134Renal Cell Carcinoma1CTD_human
TgenePAK1C0033687Proteinuria1CTD_human
TgenePAK1C1458155Mammary Neoplasms1CTD_human