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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:FDFT1-CTSB (FusionGDB2 ID:HG2222TG1508)

Fusion Gene Summary for FDFT1-CTSB

check button Fusion gene summary
Fusion gene informationFusion gene name: FDFT1-CTSB
Fusion gene ID: hg2222tg1508
HgeneTgene
Gene symbol

FDFT1

CTSB

Gene ID

2222

1508

Gene namefarnesyl-diphosphate farnesyltransferase 1cathepsin B
SynonymsDGPT|ERG9|SQS|SQSD|SSAPPS|CPSB|RECEUP
Cytomap('FDFT1')('CTSB')

8p23.1

8p23.1

Type of geneprotein-codingprotein-coding
Descriptionsqualene synthaseFPP:FPP farnesyltransferasepresqualene-di-diphosphate synthasesqualene synthetasecathepsin BAPP secretaseamyloid precursor protein secretasecathepsin B1cysteine proteaseepididymis secretory sperm binding protein
Modification date2020032020200313
UniProtAcc

P37268

.
Ensembl transtripts involved in fusion geneENST00000220584, ENST00000443614, 
ENST00000525777, ENST00000525900, 
ENST00000528643, ENST00000528812, 
ENST00000530664, ENST00000538689, 
ENST00000446331, 		ENST00000220584, 
ENST00000538689, ENST00000443614, 
ENST00000446331, ENST00000525777, 
ENST00000525900, ENST00000528643, 
ENST00000528812, ENST00000530664, 
Fusion gene scores* DoF score16 X 12 X 9=172813 X 14 X 6=1092
# samples 2014
** MAII scorelog2(20/1728*10)=-3.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/1092*10)=-2.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FDFT1 [Title/Abstract] AND CTSB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFDFT1(11667359)-CTSB(11701750), # samples:1
Anticipated loss of major functional domain due to fusion event.CTSB-FDFT1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
CTSB-FDFT1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CTSB-FDFT1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
TgeneCTSB

GO:0006508

proteolysis

7890620|8811434

TgeneCTSB

GO:0030574

collagen catabolic process

22952693

TgeneCTSB

GO:0051603

proteolysis involved in cellular protein catabolic process

22952693



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
ChimerDB4LUADTCGA-38-4630-01AFDFT1chr8

11667359

+CTSBchr8

11701750

-


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Fusion Gene ORF analysis for FDFT1-CTSB

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-3UTRENST00000220584ENST00000353047FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000220584ENST00000434271FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000220584ENST00000530640FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000220584ENST00000531089FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000443614ENST00000353047FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000443614ENST00000434271FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000443614ENST00000530640FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000443614ENST00000531089FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000525777ENST00000353047FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000525777ENST00000434271FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000525777ENST00000530640FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000525777ENST00000531089FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000525900ENST00000353047FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000525900ENST00000434271FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000525900ENST00000530640FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000525900ENST00000531089FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000528643ENST00000353047FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000528643ENST00000434271FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000528643ENST00000530640FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000528643ENST00000531089FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000528812ENST00000353047FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000528812ENST00000434271FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000528812ENST00000530640FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000528812ENST00000531089FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000530664ENST00000353047FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000530664ENST00000434271FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000530664ENST00000530640FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000530664ENST00000531089FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000538689ENST00000353047FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000538689ENST00000434271FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000538689ENST00000530640FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-3UTRENST00000538689ENST00000531089FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000220584ENST00000345125FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000220584ENST00000415599FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000220584ENST00000453527FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000220584ENST00000525076FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000220584ENST00000533455FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000220584ENST00000534510FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000443614ENST00000345125FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000443614ENST00000415599FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000443614ENST00000453527FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000443614ENST00000525076FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000443614ENST00000533455FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000443614ENST00000534510FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000525777ENST00000345125FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000525777ENST00000415599FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000525777ENST00000453527FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000525777ENST00000525076FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000525777ENST00000533455FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000525777ENST00000534510FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000525900ENST00000345125FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000525900ENST00000415599FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000525900ENST00000453527FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000525900ENST00000525076FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000525900ENST00000533455FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000525900ENST00000534510FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000528643ENST00000345125FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000528643ENST00000415599FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000528643ENST00000453527FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000528643ENST00000525076FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000528643ENST00000533455FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000528643ENST00000534510FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000528812ENST00000345125FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000528812ENST00000415599FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000528812ENST00000453527FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000528812ENST00000525076FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000528812ENST00000533455FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000528812ENST00000534510FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000530664ENST00000345125FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000530664ENST00000415599FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000530664ENST00000453527FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000530664ENST00000525076FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000530664ENST00000533455FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000530664ENST00000534510FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000538689ENST00000345125FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000538689ENST00000415599FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000538689ENST00000453527FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000538689ENST00000525076FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000538689ENST00000533455FDFT1chr8

11667359

+CTSBchr8

11701750

-
5CDS-intronENST00000538689ENST00000534510FDFT1chr8

11667359

+CTSBchr8

11701750

-
intron-3UTRENST00000446331ENST00000353047FDFT1chr8

11667359

+CTSBchr8

11701750

-
intron-3UTRENST00000446331ENST00000434271FDFT1chr8

11667359

+CTSBchr8

11701750

-
intron-3UTRENST00000446331ENST00000530640FDFT1chr8

11667359

+CTSBchr8

11701750

-
intron-3UTRENST00000446331ENST00000531089FDFT1chr8

11667359

+CTSBchr8

11701750

-
intron-intronENST00000446331ENST00000345125FDFT1chr8

11667359

+CTSBchr8

11701750

-
intron-intronENST00000446331ENST00000415599FDFT1chr8

11667359

+CTSBchr8

11701750

-
intron-intronENST00000446331ENST00000453527FDFT1chr8

11667359

+CTSBchr8

11701750

-
intron-intronENST00000446331ENST00000525076FDFT1chr8

11667359

+CTSBchr8

11701750

-
intron-intronENST00000446331ENST00000533455FDFT1chr8

11667359

+CTSBchr8

11701750

-
intron-intronENST00000446331ENST00000534510FDFT1chr8

11667359

+CTSBchr8

11701750

-

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 FDFT1-CTSB


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)


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Fusion Protein Features for FDFT1-CTSB


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/:11667359/:11701750)
- 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
FDFT1

P37268

.
FUNCTION: Catalyzes the condensation of 2 farnesyl pyrophosphate (FPP) moieties to form squalene. Proceeds in two distinct steps. In the first half-reaction, two molecules of FPP react to form the stable presqualene diphosphate intermediate (PSQPP), with concomitant release of a proton and a molecule of inorganic diphosphate. In the second half-reaction, PSQPP undergoes heterolysis, isomerization, and reduction with NADPH or NADH to form squalene. It is the first committed enzyme of the sterol biosynthesis pathway. {ECO:0000269|PubMed:10896663, ECO:0000269|PubMed:24531458}.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 FDFT1-CTSB


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 FDFT1-CTSB


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 FDFT1-CTSB


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 FDFT1-CTSB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFDFT1C0006868Cannabis Abuse1CTD_human
HgeneFDFT1C0006870Cannabis Dependence1CTD_human
HgeneFDFT1C0009171Cocaine Abuse1CTD_human
HgeneFDFT1C0018614Hashish Abuse1CTD_human
HgeneFDFT1C0024809Marijuana Abuse1CTD_human
HgeneFDFT1C0031391Phencyclidine Abuse1CTD_human
HgeneFDFT1C0036572Seizures1GENOMICS_ENGLAND
HgeneFDFT1C0037268Skin Abnormalities1GENOMICS_ENGLAND
HgeneFDFT1C0234398Visual Cortex Disorder1GENOMICS_ENGLAND
HgeneFDFT1C0236735Cannabis-Related Disorder1CTD_human
HgeneFDFT1C0236736Cocaine-Related Disorders1CTD_human
HgeneFDFT1C0236742Phencyclidine-Related Disorders1CTD_human
HgeneFDFT1C0600427Cocaine Dependence1CTD_human
HgeneFDFT1C2239176Liver carcinoma1CTD_human
HgeneFDFT1C3553450Profound global developmental delay1GENOMICS_ENGLAND
HgeneFDFT1C3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneFDFT1C4022810Abnormality of nervous system morphology1GENOMICS_ENGLAND
HgeneFDFT1C4025871Abnormality of the face1GENOMICS_ENGLAND
HgeneFDFT1C4048268Cortical visual impairment1GENOMICS_ENGLAND
TgeneC0027626Neoplasm Invasiveness2CTD_human
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0017636Glioblastoma1CTD_human
TgeneC0026848Myopathy1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0033687Proteinuria1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0334588Giant Cell Glioblastoma1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0406756Keratolytic winter erythema1CTD_human;ORPHANET
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC1621958Glioblastoma Multiforme1CTD_human