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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:BTBD9-BTBD9 (FusionGDB2 ID:10487)

Fusion Gene Summary for BTBD9-BTBD9

check button Fusion gene summary
Fusion gene informationFusion gene name: BTBD9-BTBD9
Fusion gene ID: 10487
HgeneTgene
Gene symbol

BTBD9

BTBD9

Gene ID

114781

114781

Gene nameBTB domain containing 9BTB domain containing 9
SynonymsdJ322I12.1dJ322I12.1
Cytomap

6p21.2

6p21.2

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing protein 9BTB (POZ) domain containing 9BTB/POZ domain-containing protein 9BTB (POZ) domain containing 9
Modification date2020031320200313
UniProtAcc

Q96Q07

Q96Q07

Ensembl transtripts involved in fusion geneENST00000314100, ENST00000403056, 
ENST00000408958, ENST00000419706, 
ENST00000481247, 		ENST00000314100, 
ENST00000403056, ENST00000408958, 
ENST00000419706, ENST00000481247, 
Fusion gene scores* DoF score18 X 16 X 9=259218 X 18 X 7=2268
# samples 2120
** MAII scorelog2(21/2592*10)=-3.6256044852185
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/2268*10)=-3.5033487351675
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BTBD9 [Title/Abstract] AND BTBD9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBTBD9(38224272)-BTBD9(38142931), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across BTBD9 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across BTBD9 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ACV406868BTBD9chr6

38404710

-BTBD9chr6

38404913

+
ChiTaRS5.0N/AF13287BTBD9chr6

38224272

-BTBD9chr6

38142931

+
ChiTaRS5.0N/AT77387BTBD9chr6

38224272

-BTBD9chr6

38142931

+


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Fusion Gene ORF analysis for BTBD9-BTBD9

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-3CDSENST00000314100ENST00000314100BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000314100ENST00000403056BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000314100ENST00000408958BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000314100ENST00000419706BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000314100ENST00000481247BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000403056ENST00000314100BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000403056ENST00000403056BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000403056ENST00000408958BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000403056ENST00000419706BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000403056ENST00000481247BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000408958ENST00000314100BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000408958ENST00000403056BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000408958ENST00000408958BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000408958ENST00000419706BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000408958ENST00000481247BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000419706ENST00000314100BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000419706ENST00000403056BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000419706ENST00000408958BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000419706ENST00000419706BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000419706ENST00000481247BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000481247ENST00000314100BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000481247ENST00000403056BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000481247ENST00000408958BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000481247ENST00000419706BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-3CDSENST00000481247ENST00000481247BTBD9chr6

38224272

-BTBD9chr6

38142931

+
intron-intronENST00000314100ENST00000314100BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000314100ENST00000403056BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000314100ENST00000408958BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000314100ENST00000419706BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000314100ENST00000481247BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000403056ENST00000314100BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000403056ENST00000403056BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000403056ENST00000408958BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000403056ENST00000419706BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000403056ENST00000481247BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000408958ENST00000314100BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000408958ENST00000403056BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000408958ENST00000408958BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000408958ENST00000419706BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000408958ENST00000481247BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000419706ENST00000314100BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000419706ENST00000403056BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000419706ENST00000408958BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000419706ENST00000419706BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000419706ENST00000481247BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000481247ENST00000314100BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000481247ENST00000403056BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000481247ENST00000408958BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000481247ENST00000419706BTBD9chr6

38404710

-BTBD9chr6

38404913

+
intron-intronENST00000481247ENST00000481247BTBD9chr6

38404710

-BTBD9chr6

38404913

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for BTBD9-BTBD9


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for BTBD9-BTBD9


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:38224272/:38142931)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q96Q07

BTBD9

Q96Q07


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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Fusion Gene Sequence for BTBD9-BTBD9


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for BTBD9-BTBD9


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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Related Drugs for BTBD9-BTBD9


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for BTBD9-BTBD9


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