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Fusion gene ID: 25763 |
FusionGeneSummary for PACSIN2_ZNF823 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PACSIN2_ZNF823 | Fusion gene ID: 25763 | Hgene | Tgene | Gene symbol | PACSIN2 | ZNF823 | Gene ID | 11252 | 55552 |
Gene name | protein kinase C and casein kinase substrate in neurons 2 | zinc finger protein 823 | |
Synonyms | SDPII | HSZFP36 | |
Cytomap | 22q13.2 | 19p13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | protein kinase C and casein kinase substrate in neurons protein 2cytoplasmic phosphoprotein PACSIN2syndapin-2syndapin-IIsyndapin2 | zinc finger protein 823ZFP 36 for a zinc finger proteinzinc finger protein ZFP-36 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9UNF0 | P16415 | |
Ensembl transtripts involved in fusion gene | ENST00000337959, ENST00000263246, ENST00000407585, ENST00000403744, ENST00000402229, | ENST00000341191, ENST00000545749, ENST00000440527, | |
Fusion gene scores | * DoF score | 16 X 9 X 8=1152 | 2 X 1 X 2=4 |
# samples | 17 | 2 | |
** MAII score | log2(17/1152*10)=-2.76053406530461 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: PACSIN2 [Title/Abstract] AND ZNF823 [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 |
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-AR-A24Z-01A | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
* 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 |
Frame-shift | ENST00000337959 | ENST00000341191 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
5CDS-5UTR | ENST00000337959 | ENST00000545749 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
5CDS-5UTR | ENST00000337959 | ENST00000440527 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
Frame-shift | ENST00000263246 | ENST00000341191 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
5CDS-5UTR | ENST00000263246 | ENST00000545749 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
5CDS-5UTR | ENST00000263246 | ENST00000440527 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
Frame-shift | ENST00000407585 | ENST00000341191 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
5CDS-5UTR | ENST00000407585 | ENST00000545749 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
5CDS-5UTR | ENST00000407585 | ENST00000440527 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
Frame-shift | ENST00000403744 | ENST00000341191 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
5CDS-5UTR | ENST00000403744 | ENST00000545749 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
5CDS-5UTR | ENST00000403744 | ENST00000440527 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
Frame-shift | ENST00000402229 | ENST00000341191 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
5CDS-5UTR | ENST00000402229 | ENST00000545749 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
5CDS-5UTR | ENST00000402229 | ENST00000440527 | PACSIN2 | chr22 | 43308027 | - | ZNF823 | chr19 | 11836142 | - |
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FusionProtFeatures for PACSIN2_ZNF823 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PACSIN2 | ZNF823 |
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}. | May be involved in transcriptional regulation. |
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 PACSIN2_ZNF823 |
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 PACSIN2_ZNF823 |
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 | ZNF823 | PAK1 |
- 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 PACSIN2_ZNF823 |
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 PACSIN2_ZNF823 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PACSIN2 | C3495559 | Juvenile arthritis | 1 | CTD_human |