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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: 3908

FusionGeneSummary for BBX_VSTM1

check button Fusion gene summary
Fusion gene informationFusion gene name: BBX_VSTM1
Fusion gene ID: 3908
HgeneTgene
Gene symbol

BBX

VSTM1

Gene ID

56987

284415

Gene nameBBX, HMG-box containingV-set and transmembrane domain containing 1
SynonymsARTC1|HBP2|HSPC339|MDS001SIRL-1|SIRL1|UNQ3033
Cytomap

3q13.12

19q13.42

Type of geneprotein-codingprotein-coding
DescriptionHMG box transcription factor BBXAg recognized by Treg cells 1HMG box-containing protein 2bobby sox homologx 001 proteinV-set and transmembrane domain-containing protein 1LAIR homologOSCAR-like transcript-1signal inhibitory receptor on leukocytes-1
Modification date2018051920180519
UniProtAcc

Q8WY36

Q6UX27

Ensembl transtripts involved in fusion geneENST00000415149, ENST00000402543, 
ENST00000325805, ENST00000416476, 
ENST00000406780, ENST00000473542, 
ENST00000338372, ENST00000376626, 
ENST00000425006, ENST00000366170, 
Fusion gene scores* DoF score11 X 10 X 7=7702 X 1 X 2=4
# samples 152
** MAII scorelog2(15/770*10)=-2.35989594508638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: BBX [Title/Abstract] AND VSTM1 [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
TCGARVSARCTCGA-FX-A2QS-01ABBXchr3

107245245

+VSTM1chr19

54545623

-
* 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
5UTR-3CDSENST00000415149ENST00000338372BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-intronENST00000415149ENST00000376626BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-3UTRENST00000415149ENST00000425006BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-3UTRENST00000415149ENST00000366170BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-3CDSENST00000402543ENST00000338372BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-intronENST00000402543ENST00000376626BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-3UTRENST00000402543ENST00000425006BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-3UTRENST00000402543ENST00000366170BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-3CDSENST00000325805ENST00000338372BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-intronENST00000325805ENST00000376626BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-3UTRENST00000325805ENST00000425006BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-3UTRENST00000325805ENST00000366170BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-3CDSENST00000416476ENST00000338372BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-intronENST00000416476ENST00000376626BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-3UTRENST00000416476ENST00000425006BBXchr3

107245245

+VSTM1chr19

54545623

-
5UTR-3UTRENST00000416476ENST00000366170BBXchr3

107245245

+VSTM1chr19

54545623

-
intron-3CDSENST00000406780ENST00000338372BBXchr3

107245245

+VSTM1chr19

54545623

-
intron-intronENST00000406780ENST00000376626BBXchr3

107245245

+VSTM1chr19

54545623

-
intron-3UTRENST00000406780ENST00000425006BBXchr3

107245245

+VSTM1chr19

54545623

-
intron-3UTRENST00000406780ENST00000366170BBXchr3

107245245

+VSTM1chr19

54545623

-
intron-3CDSENST00000473542ENST00000338372BBXchr3

107245245

+VSTM1chr19

54545623

-
intron-intronENST00000473542ENST00000376626BBXchr3

107245245

+VSTM1chr19

54545623

-
intron-3UTRENST00000473542ENST00000425006BBXchr3

107245245

+VSTM1chr19

54545623

-
intron-3UTRENST00000473542ENST00000366170BBXchr3

107245245

+VSTM1chr19

54545623

-

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FusionProtFeatures for BBX_VSTM1


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

Q8WY36

VSTM1

Q6UX27

Transcription factor that is necessary for cell cycleprogression from G1 to S phase. {ECO:0000269|PubMed:11680820}. Isoform 2: Behaves as a cytokine, promoting IL17Asecretion by CD4+ T-cells, and differentiation and activation ofIL17 producing helper T-cells (TH17). Isoform 1: Inhibitory immune receptor involved in theregulation of phagocytes.

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 BBX_VSTM1


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 BBX_VSTM1


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
BBXNEDD4L, ELAVL1, APP, HSP90AA1, HDAC1, RPA3, RPA2, RPA1, SCGN, NIFK, HIST1H2BG, APC, CDC42, RAB5C, S100A4, FOXJ2, ARIH1, H2AFY2, GPATCH4, ZNF512, RSBN1, RPL18A, MECP2, TRIM44, PPP1R15A, ZSCAN31, SPAG1, TRIM25VSTM1LMNA


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 BBX_VSTM1


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 BBX_VSTM1


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