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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:FTL-APOA1 (FusionGDB2 ID:31668)

Fusion Gene Summary for FTL-APOA1

check button Fusion gene summary
Fusion gene informationFusion gene name: FTL-APOA1
Fusion gene ID: 31668
HgeneTgene
Gene symbol

FTL

APOA1

Gene ID

2512

335

Gene nameferritin light chainapolipoprotein A1
SynonymsLFTD|NBIA3HPALP2|apo(a)
Cytomap

19q13.33

11q23.3

Type of geneprotein-codingprotein-coding
Descriptionferritin light chainepididymis secretory sperm binding proteinferritin L subunitferritin L-chainferritin light polypeptide-like 3ferritin, light polypeptideapolipoprotein A-Iapo-AIepididymis secretory sperm binding protein
Modification date2020032920200329
UniProtAcc.

P02647

Ensembl transtripts involved in fusion geneENST00000331825, ENST00000236850, 
ENST00000359492, ENST00000375323, 
ENST00000375320, ENST00000375329, 
Fusion gene scores* DoF score29 X 29 X 8=67284 X 3 X 2=24
# samples 354
** MAII scorelog2(35/6728*10)=-4.26475087842282
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FTL [Title/Abstract] AND APOA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFTL(49469085)-APOA1(116706692), # samples:1
Anticipated loss of major functional domain due to fusion event.FTL-APOA1 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
TgeneAPOA1

GO:0002740

negative regulation of cytokine secretion involved in immune response

12458630

TgeneAPOA1

GO:0006656

phosphatidylcholine biosynthetic process

4335615

TgeneAPOA1

GO:0007179

transforming growth factor beta receptor signaling pathway

23726972

TgeneAPOA1

GO:0007186

G protein-coupled receptor signaling pathway

16443932

TgeneAPOA1

GO:0007229

integrin-mediated signaling pathway

23726972

TgeneAPOA1

GO:0010804

negative regulation of tumor necrosis factor-mediated signaling pathway

21571275

TgeneAPOA1

GO:0010873

positive regulation of cholesterol esterification

4335615

TgeneAPOA1

GO:0010875

positive regulation of cholesterol efflux

27472885

TgeneAPOA1

GO:0010903

negative regulation of very-low-density lipoprotein particle remodeling

14967812

TgeneAPOA1

GO:0018158

protein oxidation

12576517

TgeneAPOA1

GO:0018206

peptidyl-methionine modification

12576517

TgeneAPOA1

GO:0030301

cholesterol transport

10559507

TgeneAPOA1

GO:0032489

regulation of Cdc42 protein signal transduction

16443932

TgeneAPOA1

GO:0033344

cholesterol efflux

11162594|14703508|15358760|16443932|21481393

TgeneAPOA1

GO:0033700

phospholipid efflux

11162594|14703508

TgeneAPOA1

GO:0034115

negative regulation of heterotypic cell-cell adhesion

21571275

TgeneAPOA1

GO:0034375

high-density lipoprotein particle remodeling

21481393

TgeneAPOA1

GO:0034380

high-density lipoprotein particle assembly

190223

TgeneAPOA1

GO:0035025

positive regulation of Rho protein signal transduction

23726972

TgeneAPOA1

GO:0042632

cholesterol homeostasis

21571275

TgeneAPOA1

GO:0050713

negative regulation of interleukin-1 beta secretion

12458630

TgeneAPOA1

GO:0050728

negative regulation of inflammatory response

21571275

TgeneAPOA1

GO:0050766

positive regulation of phagocytosis

20495215

TgeneAPOA1

GO:0050821

protein stabilization

17655203|20495215

TgeneAPOA1

GO:0050919

negative chemotaxis

23726972

TgeneAPOA1

GO:0051345

positive regulation of hydrolase activity

7638166

TgeneAPOA1

GO:0051496

positive regulation of stress fiber assembly

23726972

TgeneAPOA1

GO:0055091

phospholipid homeostasis

21571275

TgeneAPOA1

GO:0060354

negative regulation of cell adhesion molecule production

21571275

TgeneAPOA1

GO:0060761

negative regulation of response to cytokine stimulus

21571275

TgeneAPOA1

GO:0070328

triglyceride homeostasis

21571275

TgeneAPOA1

GO:0070371

ERK1 and ERK2 cascade

23726972

TgeneAPOA1

GO:1900026

positive regulation of substrate adhesion-dependent cell spreading

23726972

TgeneAPOA1

GO:1902995

positive regulation of phospholipid efflux

27472885


check buttonFusion gene breakpoints across FTL (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across APOA1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4LIHCTCGA-EP-A2KB-01AFTLchr19

49469085

+APOA1chr11

116706692

-


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Fusion Gene ORF analysis for FTL-APOA1

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
Frame-shiftENST00000331825ENST00000236850FTLchr19

49469085

+APOA1chr11

116706692

-
Frame-shiftENST00000331825ENST00000359492FTLchr19

49469085

+APOA1chr11

116706692

-
Frame-shiftENST00000331825ENST00000375323FTLchr19

49469085

+APOA1chr11

116706692

-
In-frameENST00000331825ENST00000375320FTLchr19

49469085

+APOA1chr11

116706692

-
In-frameENST00000331825ENST00000375329FTLchr19

49469085

+APOA1chr11

116706692

-

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)
ENST00000331825FTLchr1949469085+ENST00000375320APOA1chr11116706692-62339730434134
ENST00000331825FTLchr1949469085+ENST00000375329APOA1chr11116706692-62339730434134

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
ENST00000331825ENST00000375320FTLchr1949469085+APOA1chr11116706692-0.353609260.64639074
ENST00000331825ENST00000375329FTLchr1949469085+APOA1chr11116706692-0.353609260.64639074

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Fusion Genomic Features for FTL-APOA1


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.
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.

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Fusion Protein Features for FTL-APOA1


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/chr19:49469085/chr11:116706692)
- 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
.APOA1

P02647

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: Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility. {ECO:0000269|PubMed:1909888}.

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
TgeneAPOA1chr19:49469085chr11:116706692ENST000002368500468_2670268.0RegionNote=10 X approximate tandem repeats
TgeneAPOA1chr19:49469085chr11:116706692ENST000003594920468_2670268.0RegionNote=10 X approximate tandem repeats
TgeneAPOA1chr19:49469085chr11:116706692ENST000003753200468_2670268.0RegionNote=10 X approximate tandem repeats
TgeneAPOA1chr19:49469085chr11:116706692ENST000003753230368_2670268.0RegionNote=10 X approximate tandem repeats
TgeneAPOA1chr19:49469085chr11:116706692ENST0000023685004112_1220268.0RepeatNote=3%3B half-length
TgeneAPOA1chr19:49469085chr11:116706692ENST0000023685004123_1440268.0RepeatNote=4
TgeneAPOA1chr19:49469085chr11:116706692ENST0000023685004145_1660268.0RepeatNote=5
TgeneAPOA1chr19:49469085chr11:116706692ENST0000023685004167_1880268.0RepeatNote=6
TgeneAPOA1chr19:49469085chr11:116706692ENST0000023685004189_2100268.0RepeatNote=7
TgeneAPOA1chr19:49469085chr11:116706692ENST0000023685004211_2320268.0RepeatNote=8
TgeneAPOA1chr19:49469085chr11:116706692ENST0000023685004233_2430268.0RepeatNote=9%3B half-length
TgeneAPOA1chr19:49469085chr11:116706692ENST0000023685004244_2670268.0RepeatNote=10
TgeneAPOA1chr19:49469085chr11:116706692ENST000002368500468_890268.0RepeatNote=1
TgeneAPOA1chr19:49469085chr11:116706692ENST000002368500490_1110268.0RepeatNote=2
TgeneAPOA1chr19:49469085chr11:116706692ENST0000035949204112_1220268.0RepeatNote=3%3B half-length
TgeneAPOA1chr19:49469085chr11:116706692ENST0000035949204123_1440268.0RepeatNote=4
TgeneAPOA1chr19:49469085chr11:116706692ENST0000035949204145_1660268.0RepeatNote=5
TgeneAPOA1chr19:49469085chr11:116706692ENST0000035949204167_1880268.0RepeatNote=6
TgeneAPOA1chr19:49469085chr11:116706692ENST0000035949204189_2100268.0RepeatNote=7
TgeneAPOA1chr19:49469085chr11:116706692ENST0000035949204211_2320268.0RepeatNote=8
TgeneAPOA1chr19:49469085chr11:116706692ENST0000035949204233_2430268.0RepeatNote=9%3B half-length
TgeneAPOA1chr19:49469085chr11:116706692ENST0000035949204244_2670268.0RepeatNote=10
TgeneAPOA1chr19:49469085chr11:116706692ENST000003594920468_890268.0RepeatNote=1
TgeneAPOA1chr19:49469085chr11:116706692ENST000003594920490_1110268.0RepeatNote=2
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532004112_1220268.0RepeatNote=3%3B half-length
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532004123_1440268.0RepeatNote=4
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532004145_1660268.0RepeatNote=5
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532004167_1880268.0RepeatNote=6
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532004189_2100268.0RepeatNote=7
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532004211_2320268.0RepeatNote=8
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532004233_2430268.0RepeatNote=9%3B half-length
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532004244_2670268.0RepeatNote=10
TgeneAPOA1chr19:49469085chr11:116706692ENST000003753200468_890268.0RepeatNote=1
TgeneAPOA1chr19:49469085chr11:116706692ENST000003753200490_1110268.0RepeatNote=2
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532303112_1220268.0RepeatNote=3%3B half-length
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532303123_1440268.0RepeatNote=4
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532303145_1660268.0RepeatNote=5
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532303167_1880268.0RepeatNote=6
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532303189_2100268.0RepeatNote=7
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532303211_2320268.0RepeatNote=8
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532303233_2430268.0RepeatNote=9%3B half-length
TgeneAPOA1chr19:49469085chr11:116706692ENST0000037532303244_2670268.0RepeatNote=10
TgeneAPOA1chr19:49469085chr11:116706692ENST000003753230368_890268.0RepeatNote=1
TgeneAPOA1chr19:49469085chr11:116706692ENST000003753230390_1110268.0RepeatNote=2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFTLchr19:49469085chr11:116706692ENST00000331825+147_1560176.0DomainFerritin-like diiron
HgeneFTLchr19:49469085chr11:116706692ENST00000331825+1454_610176.0RegionNote=Catalytic site for iron oxidation


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Fusion Gene Sequence for FTL-APOA1


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.
>31668_31668_1_FTL-APOA1_FTL_chr19_49469085_ENST00000331825_APOA1_chr11_116706692_ENST00000375320_length(transcript)=623nt_BP=397nt
GTCCCCTCGCAGTTCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTCTCTTCCAGCCTCC
GACCGCCCTCCGATTTCCTCTCCGCTTGCAACCTCCGGGACCATCTTCTCGGCCATCTCCTGCTTCTGGGACCTGCCAGCACCGTTTTTG
TGGTTAGCTCCTTCTTGCCAACCAACCATGAGCTCCCAGATTCGTCAGAATTATTCCACCGACGTGGAGGCAGCCGTCAACAGCCTGGTC
AATTTGTACCTGCAGGCCTCCTACACCTACCTCTCTCTGATTGGCCGAGGAGAAGCGCGAGGGCTACGAGCGTCTCCTGAAGATGCAAAA
CCAGCGTGGCGGCCGCGCTCTCTTCCAGGACATCAAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGA
AGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGT

>31668_31668_1_FTL-APOA1_FTL_chr19_49469085_ENST00000331825_APOA1_chr11_116706692_ENST00000375320_length(amino acids)=134AA_BP=
MSLASTVFGRNRSGDSLPASDRPPISSPLATSGTIFSAISCFWDLPAPFLWLAPSCQPTMSSQIRQNYSTDVEAAVNSLVNLYLQASYTY

--------------------------------------------------------------
>31668_31668_2_FTL-APOA1_FTL_chr19_49469085_ENST00000331825_APOA1_chr11_116706692_ENST00000375329_length(transcript)=623nt_BP=397nt
GTCCCCTCGCAGTTCGGCGGTCCCGCGGGTCTGTCTCTTGCTTCAACAGTGTTTGGACGGAACAGATCCGGGGACTCTCTTCCAGCCTCC
GACCGCCCTCCGATTTCCTCTCCGCTTGCAACCTCCGGGACCATCTTCTCGGCCATCTCCTGCTTCTGGGACCTGCCAGCACCGTTTTTG
TGGTTAGCTCCTTCTTGCCAACCAACCATGAGCTCCCAGATTCGTCAGAATTATTCCACCGACGTGGAGGCAGCCGTCAACAGCCTGGTC
AATTTGTACCTGCAGGCCTCCTACACCTACCTCTCTCTGATTGGCCGAGGAGAAGCGCGAGGGCTACGAGCGTCTCCTGAAGATGCAAAA
CCAGCGTGGCGGCCGCGCTCTCTTCCAGGACATCAAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGA
AGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGT

>31668_31668_2_FTL-APOA1_FTL_chr19_49469085_ENST00000331825_APOA1_chr11_116706692_ENST00000375329_length(amino acids)=134AA_BP=
MSLASTVFGRNRSGDSLPASDRPPISSPLATSGTIFSAISCFWDLPAPFLWLAPSCQPTMSSQIRQNYSTDVEAAVNSLVNLYLQASYTY

--------------------------------------------------------------

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Fusion Gene PPI Analysis for FTL-APOA1


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 FTL-APOA1


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 FTL-APOA1


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