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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: 33673

FusionGeneSummary for SH3KBP1_VSIG1

check button Fusion gene summary
Fusion gene informationFusion gene name: SH3KBP1_VSIG1
Fusion gene ID: 33673
HgeneTgene
Gene symbol

SH3KBP1

VSIG1

Gene ID

30011

340547

Gene nameSH3 domain containing kinase binding protein 1V-set and immunoglobulin domain containing 1
SynonymsCD2BP3|CIN85|GIG10|HSB-1|HSB1|MIG181700062D20Rik|GPA34|dJ889N15.1
Cytomap

Xp22.12

Xq22.3

Type of geneprotein-codingprotein-coding
DescriptionSH3 domain-containing kinase-binding protein 1CD2-binding protein 3SH3-domain kinase binding protein 1Src family kinase-binding protein 1c-Cbl-interacting proteincbl-interacting protein of 85 kDahuman Src family kinase-binding protein 1migration-inV-set and immunoglobulin domain-containing protein 1cell surface A33 antigenglycoprotein A34
Modification date2018052220180523
UniProtAcc

Q96B97

Q86XK7

Ensembl transtripts involved in fusion geneENST00000397821, ENST00000379716, 
ENST00000379698, ENST00000541422, 
ENST00000379697, ENST00000477102, 
ENST00000415430, ENST00000217957, 
ENST00000485533, 
Fusion gene scores* DoF score8 X 7 X 4=2241 X 1 X 1=1
# samples 81
** MAII scorelog2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: SH3KBP1 [Title/Abstract] AND VSIG1 [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

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-EE-A2MS-06ASH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
* 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-shiftENST00000397821ENST00000415430SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
Frame-shiftENST00000397821ENST00000217957SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
5CDS-intronENST00000397821ENST00000485533SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
intron-3CDSENST00000379716ENST00000415430SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
intron-3CDSENST00000379716ENST00000217957SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
intron-intronENST00000379716ENST00000485533SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
intron-3CDSENST00000379698ENST00000415430SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
intron-3CDSENST00000379698ENST00000217957SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
intron-intronENST00000379698ENST00000485533SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
intron-3CDSENST00000541422ENST00000415430SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
intron-3CDSENST00000541422ENST00000217957SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
intron-intronENST00000541422ENST00000485533SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
Frame-shiftENST00000379697ENST00000415430SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
Frame-shiftENST00000379697ENST00000217957SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
5CDS-intronENST00000379697ENST00000485533SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
intron-3CDSENST00000477102ENST00000415430SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
intron-3CDSENST00000477102ENST00000217957SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+
intron-intronENST00000477102ENST00000485533SH3KBP1chrX

19854243

-VSIG1chrX

107301268

+

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FusionProtFeatures for SH3KBP1_VSIG1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SH3KBP1

Q96B97

VSIG1

Q86XK7

Adapter protein involved in regulating diverse signaltransduction pathways. Involved in the regulation of endocytosisand lysosomal degradation of ligand-induced receptor tyrosinekinases, including EGFR and MET/hepatocyte growth factor receptor,through an association with CBL and endophilins. The associationwith CBL, and thus the receptor internalization, may inhibited byan interaction with PDCD6IP and/or SPRY2. Involved in regulationof ligand-dependent endocytosis of the IgE receptor. Attenuatesphosphatidylinositol 3-kinase activity by interaction with itsregulatory subunit (By similarity). May be involved in regulationof cell adhesion; promotes the interaction between TTK2B andPDCD6IP. May be involved in the regulation of cellular stressresponse via the MAPK pathways through its interaction withMAP3K4. Is involved in modulation of tumor necrosis factormediated apoptosis. Plays a role in the regulation of cellmorphology and cytoskeletal organization. Required in the controlof cell shape and migration. {ECO:0000250,ECO:0000269|PubMed:11894095, ECO:0000269|PubMed:11894096,ECO:0000269|PubMed:12177062, ECO:0000269|PubMed:12734385,ECO:0000269|PubMed:12771190, ECO:0000269|PubMed:15090612,ECO:0000269|PubMed:15707590, ECO:0000269|PubMed:16177060,ECO:0000269|PubMed:16256071, ECO:0000269|PubMed:21834987}.

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 SH3KBP1_VSIG1


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 SH3KBP1_VSIG1


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
SH3KBP1SH3GL3, ARHGAP27, PAK2, TJP2, TAF6, SYNJ1, CD2, BLNK, CRK, BCAR1, CBL, SOS1, SH3KBP1, SH3GLB1, SH3GLB2, MET, PDCD6, EGFR, SH3GL2, PIK3R1, GRB2, CBLB, PDGFRB, KIT, SHKBP1, UBC, PAK1, MAP3K4, PDCD6IP, HGS, ARAP1, MVB12A, NPHS1, NPHS2, CD2AP, ZNF219, SPRY2, SPRY1, ITSN2, ELAVL1, MYC, KHDRBS1, DNM2, ZFP36, SH3PXD2B, PHLDB1, PLEKHA5, ANLN, SH3BP2, RAPH1, PHLDB2, ARHGAP17, ASAP1, RACGAP1, SYDE1, RASAL2, DNM1, MICALL1, WASL, GAS2L1, WIPF1, LIMCH1, WIPF2, SYNPO, KIF23, MAP4, MAP7, PRC1, MAP7D3, TUBGCP3, TUBGCP2, TUBGCP4, SEPT9, SEPT2, SEPT11, SEPT6, SEPT10, SEPT7, SEPT8, CKAP4, CDC27, VPS37B, ERC1, ANAPC7, KCTD3, CDC23, SH3D19, ANAPC4, LRRC16A, PALMD, SLAIN2, KIAA1522, ANAPC5, LEMD2, DAG1, PRRC2A, KATNB1, PSRC1, KCTD10, DAB2, POM121, PKP3, FAM83G, WTAP, CDC16, SRGAP1, ATXN2, SHCBP1, SRRM2, HNRNPK, PABPC4, PABPC1, HNRNPC, SRSF7, RNF34, SRRM1, MCM5, PHACTR4, RPA1, CASKIN2, SAMD1, PPFIBP1, PSIP1, ELMSAN1, KLF13, CIZ1, INPPL1, SYNJ2, ABL1, CSNK1A1, RPS6KA4, CDK16, IRF2BP2, IRF2BP1, DNMT1, DDX17, KATNA1, ATP5A1, ATAD3A, DDX28, GTSE1, SERPINH1, ITSN1, DAB1, HRAS, TRA, ACTC1, DDN, SRC, LCK, LYN, FGR, FYN, HCK, TRADD, BIRC2, TRAF1, TRAF2, TNFRSF1A, HIP1R, ARAP3, MAP9, CYGB, INPP5D, ARHGEF1, CLTC, PTK2, PTK2B, FBXO25, RAB5A, CTSB, FAP, LOX, RAF1, FRS3, PSMA3, ASAP2, STAP1, ZBTB7B, PNMA5, ENO1, MOV10, NXF1, UBE2I, CAPZA2, CAPZB, NPLOC4, CDA, CSTF2, IMPDH1, IMPDH2, SEC24C, SEC24D, TSG101, UFD1L, TTC38, RPGRIP1L, TGFBR1, TGFBR2, RAB11A, CDH1, RTKN2, MDC1, SH3BP1, TCP10L, MRPL12, USP27X, TP63, ARHGAP44, FBXO28, CAPZA1, MPP5, ZNF764, CHMP5, KLC2VSIG1UBE4A, CDS1, ATP2A3, IP6K1, RRP1, SLC25A17, DEPDC1, CYP20A1, EXOG, TTI1, FANCL, TMEM160, DAGLB, NF1, C4A, INTS7, TIMELESS, XPR1, INTS4, HUS1, GHITM, RANBP6, RTN4, NLRX1, INTS2, GPN3, MFN2, RUFY1, KIDINS220, PPP2R5E, ATR, COG4, ABCB8, COG5, SLC35F2, TBCD, AP3S1, GLMN, ALG10, MDN1, COQ5, TUBA4A, TUBGCP4, TARBP1, TNPO3, XPO7, SFXN5, GK, TUBB3, SLC22A18, URB2, UTP20, TNPO2, COG6


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 SH3KBP1_VSIG1


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 SH3KBP1_VSIG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSH3KBP1C0009375Colonic Neoplasms1CTD_human