|
Fusion gene ID: 25750 |
FusionGeneSummary for PACSIN2_CERK |
Fusion gene summary |
Fusion gene information | Fusion gene name: PACSIN2_CERK | Fusion gene ID: 25750 | Hgene | Tgene | Gene symbol | PACSIN2 | CERK | Gene ID | 11252 | 64781 |
Gene name | protein kinase C and casein kinase substrate in neurons 2 | ceramide kinase | |
Synonyms | SDPII | LK4|dA59H18.2|dA59H18.3|hCERK | |
Cytomap | 22q13.2 | 22q13.31 | |
Type of gene | protein-coding | protein-coding | |
Description | protein kinase C and casein kinase substrate in neurons protein 2cytoplasmic phosphoprotein PACSIN2syndapin-2syndapin-IIsyndapin2 | ceramide kinaseacylsphingosine kinaselipid kinase 4lipid kinase LK4 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9UNF0 | Q8TCT0 | |
Ensembl transtripts involved in fusion gene | ENST00000337959, ENST00000263246, ENST00000407585, ENST00000403744, ENST00000402229, | ENST00000216264, ENST00000541677, ENST00000471929, | |
Fusion gene scores | * DoF score | 16 X 9 X 8=1152 | 5 X 3 X 3=45 |
# samples | 17 | 4 | |
** MAII score | log2(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) |
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 | PACSIN2 | GO:0097320 | plasma membrane tubulation | 23596323 |
Tgene | CERK | GO:0006672 | ceramide metabolic process | 19501188 |
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 | RV | SKCM | TCGA-FS-A4F4-06A | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
* 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 |
intron-3CDS | ENST00000337959 | ENST00000216264 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
intron-3CDS | ENST00000337959 | ENST00000541677 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
intron-intron | ENST00000337959 | ENST00000471929 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
intron-3CDS | ENST00000263246 | ENST00000216264 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
intron-3CDS | ENST00000263246 | ENST00000541677 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
intron-intron | ENST00000263246 | ENST00000471929 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
intron-3CDS | ENST00000407585 | ENST00000216264 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
intron-3CDS | ENST00000407585 | ENST00000541677 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
intron-intron | ENST00000407585 | ENST00000471929 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
5UTR-3CDS | ENST00000403744 | ENST00000216264 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
5UTR-3CDS | ENST00000403744 | ENST00000541677 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
5UTR-intron | ENST00000403744 | ENST00000471929 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
intron-3CDS | ENST00000402229 | ENST00000216264 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
intron-3CDS | ENST00000402229 | ENST00000541677 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
intron-intron | ENST00000402229 | ENST00000471929 | PACSIN2 | chr22 | 43342903 | - | CERK | chr22 | 47083103 | - |
Top |
FusionProtFeatures for PACSIN2_CERK |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PACSIN2 | CERK |
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}. |
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 |
Top |
FusionGeneSequence for PACSIN2_CERK |
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 |
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 |
PACSIN2 | PACSIN3, 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, TRIM25 | CERK | APP, 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 |
- 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 |
Top |
RelatedDrugs for PACSIN2_CERK |
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 |
Top |
RelatedDiseases for PACSIN2_CERK |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PACSIN2 | C3495559 | Juvenile arthritis | 1 | CTD_human |
Tgene | CERK | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |