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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:BTBD1-FAH (FusionGDB2 ID:HG53339TG2184)

Fusion Gene Summary for BTBD1-FAH

check button Fusion gene summary
Fusion gene informationFusion gene name: BTBD1-FAH
Fusion gene ID: hg53339tg2184
HgeneTgene
Gene symbol

BTBD1

FAH

Gene ID

53339

2184

Gene nameBTB domain containing 1fumarylacetoacetate hydrolase
SynonymsC15orf1|NS5ATP8-
Cytomap('BTBD1')('FAH')

15q25.2

15q25.1

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing protein 1BTB (POZ) domain containing 1HCV NS5A-transactivated protein 8hepatitis C virus NS5A-transactivated protein 8fumarylacetoacetaseFAAbeta-diketonaseepididymis secretory sperm binding proteinfumarylacetoacetate hydrolase (fumarylacetoacetase)
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000261721, ENST00000379403, 
ENST00000560015, 
Fusion gene scores* DoF score11 X 9 X 9=8914 X 4 X 2=32
# samples 134
** MAII scorelog2(13/891*10)=-2.77691380849347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BTBD1 [Title/Abstract] AND FAH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBTBD1(83698888)-FAH(80450402), # samples:1
Anticipated loss of major functional domain due to fusion event.BTBD1-FAH seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
* 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
* 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
ChimerDB4SARCTCGA-DX-A23R-01ABTBD1chr15

83698888

-FAHchr15

80450402

+


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Fusion Gene ORF analysis for BTBD1-FAH

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-5UTRENST00000261721ENST00000539156BTBD1chr15

83698888

-FAHchr15

80450402

+
5CDS-5UTRENST00000379403ENST00000539156BTBD1chr15

83698888

-FAHchr15

80450402

+
5CDS-intronENST00000261721ENST00000558627BTBD1chr15

83698888

-FAHchr15

80450402

+
5CDS-intronENST00000379403ENST00000558627BTBD1chr15

83698888

-FAHchr15

80450402

+
5UTR-3CDSENST00000560015ENST00000261755BTBD1chr15

83698888

-FAHchr15

80450402

+
5UTR-3CDSENST00000560015ENST00000407106BTBD1chr15

83698888

-FAHchr15

80450402

+
5UTR-3CDSENST00000560015ENST00000561421BTBD1chr15

83698888

-FAHchr15

80450402

+
5UTR-5UTRENST00000560015ENST00000539156BTBD1chr15

83698888

-FAHchr15

80450402

+
5UTR-intronENST00000560015ENST00000558627BTBD1chr15

83698888

-FAHchr15

80450402

+
Frame-shiftENST00000261721ENST00000261755BTBD1chr15

83698888

-FAHchr15

80450402

+
Frame-shiftENST00000261721ENST00000407106BTBD1chr15

83698888

-FAHchr15

80450402

+
Frame-shiftENST00000261721ENST00000561421BTBD1chr15

83698888

-FAHchr15

80450402

+
Frame-shiftENST00000379403ENST00000261755BTBD1chr15

83698888

-FAHchr15

80450402

+
Frame-shiftENST00000379403ENST00000407106BTBD1chr15

83698888

-FAHchr15

80450402

+
Frame-shiftENST00000379403ENST00000561421BTBD1chr15

83698888

-FAHchr15

80450402

+

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 BTBD1-FAH


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)
BTBD1chr1583698887-FAHchr1580450401+6.14E-060.9999939
BTBD1chr1583698887-FAHchr1580450401+6.14E-060.9999939


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.
genomic feature of top 1%

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Fusion Protein Features for BTBD1-FAH


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/:83698888/:80450402)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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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Fusion Gene Sequence for BTBD1-FAH


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 BTBD1-FAH


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 BTBD1-FAH


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 BTBD1-FAH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBTBD1C0520757Delayed Emergence from Anesthesia1CTD_human
HgeneBTBD1C4042763Postoperative Residual Curarization1CTD_human
TgeneC0268490Tyrosinemia, Type I26CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0268483Tyrosinemias2CTD_human
TgeneC0268487Tyrosine Transaminase Deficiency Disease2CTD_human
TgeneC0268623Tyrosinemia, Type III2CTD_human
TgeneC0008370Cholestasis1GENOMICS_ENGLAND
TgeneC0369183Erythrocyte Mean Corpuscular Hemoglobin Test1GENOMICS_ENGLAND
TgeneC1261502Finding of Mean Corpuscular Hemoglobin1GENOMICS_ENGLAND