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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:PINX1-FDFT1 (FusionGDB2 ID:65463)

Fusion Gene Summary for PINX1-FDFT1

check button Fusion gene summary
Fusion gene informationFusion gene name: PINX1-FDFT1
Fusion gene ID: 65463
HgeneTgene
Gene symbol

PINX1

FDFT1

Gene ID

54984

2222

Gene namePIN2 (TERF1) interacting telomerase inhibitor 1farnesyl-diphosphate farnesyltransferase 1
SynonymsGno1|LPTL|LPTS|Pxr1DGPT|ERG9|SQS|SQSD|SS
Cytomap

8p23.1

8p23.1

Type of geneprotein-codingprotein-coding
DescriptionPIN2/TERF1-interacting telomerase inhibitor 167-11-3 proteinPIN2-interacting protein 1TRF1-interacting protein 1hepatocellular carcinoma-related putative tumor suppressorliver-related putative tumor suppressorpin2-interacting protein X1protein 67-1squalene synthaseFPP:FPP farnesyltransferasepresqualene-di-diphosphate synthasesqualene synthetase
Modification date2020032720200320
UniProtAcc.

P37268

Ensembl transtripts involved in fusion geneENST00000314787, ENST00000426190, 
ENST00000519088, ENST00000520018, 
ENST00000220584, ENST00000528812, 
ENST00000530664, ENST00000538689, 
ENST00000443614, ENST00000446331, 
ENST00000525777, ENST00000525900, 
ENST00000528643, 
Fusion gene scores* DoF score7 X 7 X 5=24512 X 9 X 5=540
# samples 811
** MAII scorelog2(8/245*10)=-1.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/540*10)=-2.29545588352617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PINX1 [Title/Abstract] AND FDFT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPINX1(10677702)-FDFT1(11666302), # samples:1
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
HgenePINX1

GO:0007004

telomere maintenance via telomerase

11701125

HgenePINX1

GO:0010972

negative regulation of G2/M transition of mitotic cell cycle

11701125

HgenePINX1

GO:0032211

negative regulation of telomere maintenance via telomerase

11701125

HgenePINX1

GO:0051974

negative regulation of telomerase activity

11701125

HgenePINX1

GO:1902570

protein localization to nucleolus

24415760

HgenePINX1

GO:1904744

positive regulation of telomeric DNA binding

19265708|24415760

HgenePINX1

GO:1904751

positive regulation of protein localization to nucleolus

19265708


check buttonFusion gene breakpoints across PINX1 (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 FDFT1 (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
ChimerDB4ESCATCGA-VR-A8EWPINX1chr8

10677702

-FDFT1chr8

11666302

+


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Fusion Gene ORF analysis for PINX1-FDFT1

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-5UTRENST00000314787ENST00000220584PINX1chr8

10677702

-FDFT1chr8

11666302

+
5CDS-5UTRENST00000314787ENST00000528812PINX1chr8

10677702

-FDFT1chr8

11666302

+
5CDS-5UTRENST00000314787ENST00000530664PINX1chr8

10677702

-FDFT1chr8

11666302

+
5CDS-5UTRENST00000314787ENST00000538689PINX1chr8

10677702

-FDFT1chr8

11666302

+
5CDS-intronENST00000314787ENST00000443614PINX1chr8

10677702

-FDFT1chr8

11666302

+
5CDS-intronENST00000314787ENST00000446331PINX1chr8

10677702

-FDFT1chr8

11666302

+
5CDS-intronENST00000314787ENST00000525777PINX1chr8

10677702

-FDFT1chr8

11666302

+
5CDS-intronENST00000314787ENST00000525900PINX1chr8

10677702

-FDFT1chr8

11666302

+
5CDS-intronENST00000314787ENST00000528643PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-5UTRENST00000426190ENST00000220584PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-5UTRENST00000426190ENST00000528812PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-5UTRENST00000426190ENST00000530664PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-5UTRENST00000426190ENST00000538689PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-5UTRENST00000519088ENST00000220584PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-5UTRENST00000519088ENST00000528812PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-5UTRENST00000519088ENST00000530664PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-5UTRENST00000519088ENST00000538689PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-5UTRENST00000520018ENST00000220584PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-5UTRENST00000520018ENST00000528812PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-5UTRENST00000520018ENST00000530664PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-5UTRENST00000520018ENST00000538689PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000426190ENST00000443614PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000426190ENST00000446331PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000426190ENST00000525777PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000426190ENST00000525900PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000426190ENST00000528643PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000519088ENST00000443614PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000519088ENST00000446331PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000519088ENST00000525777PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000519088ENST00000525900PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000519088ENST00000528643PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000520018ENST00000443614PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000520018ENST00000446331PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000520018ENST00000525777PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000520018ENST00000525900PINX1chr8

10677702

-FDFT1chr8

11666302

+
intron-intronENST00000520018ENST00000528643PINX1chr8

10677702

-FDFT1chr8

11666302

+

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 PINX1-FDFT1


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)
PINX1chr810677702-FDFT1chr811666302+0.98733720.012662845
PINX1chr810677702-FDFT1chr811666302+0.98733720.012662845

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.
genomic feature

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 PINX1-FDFT1


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/:10677702/:11666302)
- 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: 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: 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}.

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 PINX1-FDFT1


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 PINX1-FDFT1


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 PINX1-FDFT1


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 PINX1-FDFT1


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