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: 25750

FusionGeneSummary for PACSIN2_CERK

check button Fusion gene summary
Fusion gene informationFusion gene name: PACSIN2_CERK
Fusion gene ID: 25750
HgeneTgene
Gene symbol

PACSIN2

CERK

Gene ID

11252

64781

Gene nameprotein kinase C and casein kinase substrate in neurons 2ceramide kinase
SynonymsSDPIILK4|dA59H18.2|dA59H18.3|hCERK
Cytomap

22q13.2

22q13.31

Type of geneprotein-codingprotein-coding
Descriptionprotein kinase C and casein kinase substrate in neurons protein 2cytoplasmic phosphoprotein PACSIN2syndapin-2syndapin-IIsyndapin2ceramide kinaseacylsphingosine kinaselipid kinase 4lipid kinase LK4
Modification date2018052320180519
UniProtAcc

Q9UNF0

Q8TCT0

Ensembl transtripts involved in fusion geneENST00000337959, ENST00000263246, 
ENST00000407585, ENST00000403744, 
ENST00000402229, 
ENST00000216264, 
ENST00000541677, ENST00000471929, 
Fusion gene scores* DoF score16 X 9 X 8=11525 X 3 X 3=45
# samples 174
** MAII scorelog2(17/1152*10)=-2.76053406530461
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/45*10)=-0.169925001442312
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PACSIN2 [Title/Abstract] AND CERK [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
HgenePACSIN2

GO:0097320

plasma membrane tubulation

23596323

TgeneCERK

GO:0006672

ceramide metabolic process

19501188


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
TCGARVSKCMTCGA-FS-A4F4-06APACSIN2chr22

43342903

-CERKchr22

47083103

-
* 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-3CDSENST00000337959ENST00000216264PACSIN2chr22

43342903

-CERKchr22

47083103

-
intron-3CDSENST00000337959ENST00000541677PACSIN2chr22

43342903

-CERKchr22

47083103

-
intron-intronENST00000337959ENST00000471929PACSIN2chr22

43342903

-CERKchr22

47083103

-
intron-3CDSENST00000263246ENST00000216264PACSIN2chr22

43342903

-CERKchr22

47083103

-
intron-3CDSENST00000263246ENST00000541677PACSIN2chr22

43342903

-CERKchr22

47083103

-
intron-intronENST00000263246ENST00000471929PACSIN2chr22

43342903

-CERKchr22

47083103

-
intron-3CDSENST00000407585ENST00000216264PACSIN2chr22

43342903

-CERKchr22

47083103

-
intron-3CDSENST00000407585ENST00000541677PACSIN2chr22

43342903

-CERKchr22

47083103

-
intron-intronENST00000407585ENST00000471929PACSIN2chr22

43342903

-CERKchr22

47083103

-
5UTR-3CDSENST00000403744ENST00000216264PACSIN2chr22

43342903

-CERKchr22

47083103

-
5UTR-3CDSENST00000403744ENST00000541677PACSIN2chr22

43342903

-CERKchr22

47083103

-
5UTR-intronENST00000403744ENST00000471929PACSIN2chr22

43342903

-CERKchr22

47083103

-
intron-3CDSENST00000402229ENST00000216264PACSIN2chr22

43342903

-CERKchr22

47083103

-
intron-3CDSENST00000402229ENST00000541677PACSIN2chr22

43342903

-CERKchr22

47083103

-
intron-intronENST00000402229ENST00000471929PACSIN2chr22

43342903

-CERKchr22

47083103

-

Top

FusionProtFeatures for PACSIN2_CERK


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PACSIN2

Q9UNF0

CERK

Q8TCT0

Lipid-binding protein that is able to promote thetubulation of the phosphatidic acid-containing membranes itpreferentially binds. Plays a role in intracellular vesicle-mediated transport. Involved in the endocytosis of cell-surfacereceptors like the EGF receptor, contributing to itsinternalization in the absence of EGF stimulus. May also play arole in the formation of caveolae at the cell membrane. RecruitsDNM2 to caveolae, and thereby plays a role in caveola-mediatedendocytosis. {ECO:0000269|PubMed:21610094,ECO:0000269|PubMed:21693584, ECO:0000269|PubMed:23129763,ECO:0000269|PubMed:23236520, ECO:0000269|PubMed:23596323}. Catalyzes specifically the phosphorylation of ceramideto form ceramide 1-phosphate. Acts efficiently on natural andanalog ceramides (C6, C8, C16 ceramides, and C8-dihydroceramide),to a lesser extent on C2-ceramide and C6-dihydroceramide, but noton other lipids, such as various sphingosines. Bindsphosphoinositides. {ECO:0000269|PubMed:19168031}.

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 PACSIN2_CERK


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 PACSIN2_CERK


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
PACSIN2PACSIN3, PACSIN1, PACSIN2, FASLG, DNM1, SYNJ1, WASL, CARS, CYFIP2, ASAP1, DNM2, HSPA1A, HSPA8, KHDRBS1, MICALL1, APBB1IP, WAS, WIPF1, SBK1, TERF1, TERF2IP, POT1, SHBG, ANKS1A, COL4A3BP, FTL, PLOD2, PTPN12, UGP2, VASN, PPP2R5C, SWAP70, MEOX2, MOV10, NXF1, COBL, COBLL1, THG1L, WIPF2, MPRIP, HSPD1, PTGES3, ST13, EWSR1, TMEM17, ERP44, CDH1, RAI14, GTF2E2, TRIM25CERKAPP, ALAS1, MTUS2, KRTAP10-3, NOTCH2NL, TNFRSF9, KCTD17, HEPACAM2, CCNDBP1, NTRK1, BUB1B, NR3C1, PRMT1, IK, NCBP1, ALDH18A1, HLTF, SPG7, TAF13, USP1, BAG6, UBL4A, GEMIN2, PRPF4, WDR46, DDX23, CELF1, U2AF2, WDR43, APOL2, TBC1D22A, CCDC174, EIF4ENIF1, RAD18, RBM26, ILKAP, PRRC2B, CIRH1A, GMNN, VWCE, HAVCR2, CD83, TPCN2, IL20RA, MRAP2, TRIM25


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 PACSIN2_CERK


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 PACSIN2_CERK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePACSIN2C3495559Juvenile arthritis1CTD_human
TgeneCERKC0023893Liver Cirrhosis, Experimental1CTD_human