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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: 25763

FusionGeneSummary for PACSIN2_ZNF823

check button Fusion gene summary
Fusion gene informationFusion gene name: PACSIN2_ZNF823
Fusion gene ID: 25763
HgeneTgene
Gene symbol

PACSIN2

ZNF823

Gene ID

11252

55552

Gene nameprotein kinase C and casein kinase substrate in neurons 2zinc finger protein 823
SynonymsSDPIIHSZFP36
Cytomap

22q13.2

19p13.2

Type of geneprotein-codingprotein-coding
Descriptionprotein kinase C and casein kinase substrate in neurons protein 2cytoplasmic phosphoprotein PACSIN2syndapin-2syndapin-IIsyndapin2zinc finger protein 823ZFP 36 for a zinc finger proteinzinc finger protein ZFP-36
Modification date2018052320180519
UniProtAcc

Q9UNF0

P16415

Ensembl transtripts involved in fusion geneENST00000337959, ENST00000263246, 
ENST00000407585, ENST00000403744, 
ENST00000402229, 
ENST00000341191, 
ENST00000545749, ENST00000440527, 
Fusion gene scores* DoF score16 X 9 X 8=11522 X 1 X 2=4
# samples 172
** MAII scorelog2(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)

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


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-AR-A24Z-01APACSIN2chr22

43308027

-ZNF823chr19

11836142

-
* 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
Frame-shiftENST00000337959ENST00000341191PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
5CDS-5UTRENST00000337959ENST00000545749PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
5CDS-5UTRENST00000337959ENST00000440527PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
Frame-shiftENST00000263246ENST00000341191PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
5CDS-5UTRENST00000263246ENST00000545749PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
5CDS-5UTRENST00000263246ENST00000440527PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
Frame-shiftENST00000407585ENST00000341191PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
5CDS-5UTRENST00000407585ENST00000545749PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
5CDS-5UTRENST00000407585ENST00000440527PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
Frame-shiftENST00000403744ENST00000341191PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
5CDS-5UTRENST00000403744ENST00000545749PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
5CDS-5UTRENST00000403744ENST00000440527PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
Frame-shiftENST00000402229ENST00000341191PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
5CDS-5UTRENST00000402229ENST00000545749PACSIN2chr22

43308027

-ZNF823chr19

11836142

-
5CDS-5UTRENST00000402229ENST00000440527PACSIN2chr22

43308027

-ZNF823chr19

11836142

-

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FusionProtFeatures for PACSIN2_ZNF823


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

Q9UNF0

ZNF823

P16415

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.

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 PACSIN2_ZNF823


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 PACSIN2_ZNF823


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, TRIM25ZNF823PAK1


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 PACSIN2_ZNF823


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 PACSIN2_ZNF823


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