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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: 4550

FusionGeneSummary for BTBD9_VSNL1

check button Fusion gene summary
Fusion gene informationFusion gene name: BTBD9_VSNL1
Fusion gene ID: 4550
HgeneTgene
Gene symbol

BTBD9

VSNL1

Gene ID

114781

7447

Gene nameBTB domain containing 9visinin like 1
SynonymsdJ322I12.1HLP3|HPCAL3|HUVISL1|VILIP|VILIP-1
Cytomap

6p21.2

2p24.2

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing protein 9BTB (POZ) domain containing 9visinin-like protein 1VLP-1hippocalcin-like protein 3
Modification date2018052320180519
UniProtAcc

Q96Q07

P62760

Ensembl transtripts involved in fusion geneENST00000314100, ENST00000481247, 
ENST00000419706, ENST00000408958, 
ENST00000403056, 		ENST00000404666, 
ENST00000295156, ENST00000406397, 
ENST00000483921, 
Fusion gene scores* DoF score12 X 9 X 7=7563 X 4 X 3=36
# samples 154
** MAII scorelog2(15/756*10)=-2.33342373372519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BTBD9 [Title/Abstract] AND VSNL1 [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
ChiTaRS3.1AX746689BTBD9chr6

38141711

-VSNL1chr2

17836700

+
ChiTaRS3.1AK090930BTBD9chr6

38141711

-VSNL1chr2

17836700

+
* 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
intron-3UTRENST00000314100ENST00000404666BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000314100ENST00000295156BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000314100ENST00000406397BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-intronENST00000314100ENST00000483921BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000481247ENST00000404666BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000481247ENST00000295156BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000481247ENST00000406397BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-intronENST00000481247ENST00000483921BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000419706ENST00000404666BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000419706ENST00000295156BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000419706ENST00000406397BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-intronENST00000419706ENST00000483921BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000408958ENST00000404666BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000408958ENST00000295156BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000408958ENST00000406397BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-intronENST00000408958ENST00000483921BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000403056ENST00000404666BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000403056ENST00000295156BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-3UTRENST00000403056ENST00000406397BTBD9chr6

38141711

-VSNL1chr2

17836700

+
intron-intronENST00000403056ENST00000483921BTBD9chr6

38141711

-VSNL1chr2

17836700

+

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FusionProtFeatures for BTBD9_VSNL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BTBD9

Q96Q07

VSNL1

P62760

Regulates (in vitro) the inhibition of rhodopsinphosphorylation in a calcium-dependent manner. {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 BTBD9_VSNL1


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 BTBD9_VSNL1


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


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 BTBD9_VSNL1


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 BTBD9_VSNL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBTBD9C0035258Restless Legs Syndrome1CTD_human
HgeneBTBD9C0036341Schizophrenia1PSYGENET
TgeneVSNL1C0036341Schizophrenia2PSYGENET
TgeneVSNL1C0002395Alzheimer's Disease1CTD_human