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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: 25760

FusionGeneSummary for PACSIN2_SPON1

check button Fusion gene summary
Fusion gene informationFusion gene name: PACSIN2_SPON1
Fusion gene ID: 25760
HgeneTgene
Gene symbol

PACSIN2

SPON1

Gene ID

11252

10418

Gene nameprotein kinase C and casein kinase substrate in neurons 2spondin 1
SynonymsSDPIIVSGP/F-spondin|f-spondin
Cytomap

22q13.2

11p15.2

Type of geneprotein-codingprotein-coding
Descriptionprotein kinase C and casein kinase substrate in neurons protein 2cytoplasmic phosphoprotein PACSIN2syndapin-2syndapin-IIsyndapin2spondin-1spondin 1, (f-spondin) extracellular matrix proteinspondin 1, extracellular matrix proteinvascular smooth muscle cell growth-promoting factor
Modification date2018052320180522
UniProtAcc

Q9UNF0

Q9HCB6

Ensembl transtripts involved in fusion geneENST00000337959, ENST00000263246, 
ENST00000407585, ENST00000403744, 
ENST00000402229, 
ENST00000310358, 
Fusion gene scores* DoF score16 X 9 X 8=11525 X 4 X 5=100
# samples 175
** MAII scorelog2(17/1152*10)=-2.76053406530461
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PACSIN2 [Title/Abstract] AND SPON1 [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
TCGARVUCSTCGA-N5-A4RD-01APACSIN2chr22

43308027

-SPON1chr11

14264878

+
* 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
5CDS-3UTRENST00000337959ENST00000310358PACSIN2chr22

43308027

-SPON1chr11

14264878

+
5CDS-3UTRENST00000263246ENST00000310358PACSIN2chr22

43308027

-SPON1chr11

14264878

+
5CDS-3UTRENST00000407585ENST00000310358PACSIN2chr22

43308027

-SPON1chr11

14264878

+
5CDS-3UTRENST00000403744ENST00000310358PACSIN2chr22

43308027

-SPON1chr11

14264878

+
5CDS-3UTRENST00000402229ENST00000310358PACSIN2chr22

43308027

-SPON1chr11

14264878

+

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FusionProtFeatures for PACSIN2_SPON1


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

Q9UNF0

SPON1

Q9HCB6

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}. Cell adhesion protein that promotes the attachment ofspinal cord and sensory neuron cells and the outgrowth of neuritesin vitro. May contribute to the growth and guidance of axons inboth the spinal cord and the PNS (By similarity). Major factor forvascular smooth muscle cell. {ECO:0000250}.

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_SPON1


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_SPON1


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, TRIM25SPON1


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_SPON1


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_SPON1


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