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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:LRRFIP1-CAB39 (FusionGDB2 ID:50072)

Fusion Gene Summary for LRRFIP1-CAB39

check button Fusion gene summary
Fusion gene informationFusion gene name: LRRFIP1-CAB39
Fusion gene ID: 50072
HgeneTgene
Gene symbol

LRRFIP1

CAB39

Gene ID

9208

51719

Gene nameLRR binding FLII interacting protein 1calcium binding protein 39
SynonymsFLAP-1|FLAP1|FLIIAP1|GCF-2|GCF2|HUFI-1|TRIPCGI-66|MO25
Cytomap

2q37.3

2q37.1

Type of geneprotein-codingprotein-coding
Descriptionleucine-rich repeat flightless-interacting protein 1GC-binding factor 2LRR FLII-interacting protein 1NEDD8-conjugating enzymeTAR RNA-interacting proteinleucine rich repeat (in FLII) interacting protein 1calcium-binding protein 39MO25alpha
Modification date2020031320200313
UniProtAcc

Q32MZ4

Q9H9S4

Ensembl transtripts involved in fusion geneENST00000244815, ENST00000289175, 
ENST00000308482, ENST00000392000, 
ENST00000468950, 
ENST00000258418, 
ENST00000409788, ENST00000410084, 
ENST00000484398, 
Fusion gene scores* DoF score16 X 12 X 9=17288 X 7 X 5=280
# samples 208
** MAII scorelog2(20/1728*10)=-3.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LRRFIP1 [Title/Abstract] AND CAB39 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointLRRFIP1(238617273)-CAB39(231624673), # 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
HgeneLRRFIP1

GO:0000122

negative regulation of transcription by RNA polymerase II

14522076

TgeneCAB39

GO:0010800

positive regulation of peptidyl-threonine phosphorylation

24393035

TgeneCAB39

GO:0018105

peptidyl-serine phosphorylation

24393035

TgeneCAB39

GO:0023014

signal transduction by protein phosphorylation

24393035

TgeneCAB39

GO:0035556

intracellular signal transduction

24393035

TgeneCAB39

GO:0071902

positive regulation of protein serine/threonine kinase activity

19892943|24393035


check buttonFusion gene breakpoints across LRRFIP1 (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 CAB39 (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-IG-A625LRRFIP1chr2

238617273

+CAB39chr2

231624673

+


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Fusion Gene ORF analysis for LRRFIP1-CAB39

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-5UTRENST00000244815ENST00000258418LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-5UTRENST00000244815ENST00000409788LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-5UTRENST00000244815ENST00000410084LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-5UTRENST00000289175ENST00000258418LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-5UTRENST00000289175ENST00000409788LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-5UTRENST00000289175ENST00000410084LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-5UTRENST00000308482ENST00000258418LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-5UTRENST00000308482ENST00000409788LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-5UTRENST00000308482ENST00000410084LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-5UTRENST00000392000ENST00000258418LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-5UTRENST00000392000ENST00000409788LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-5UTRENST00000392000ENST00000410084LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-intronENST00000244815ENST00000484398LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-intronENST00000289175ENST00000484398LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-intronENST00000308482ENST00000484398LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
5CDS-intronENST00000392000ENST00000484398LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
intron-5UTRENST00000468950ENST00000258418LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
intron-5UTRENST00000468950ENST00000409788LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
intron-5UTRENST00000468950ENST00000410084LRRFIP1chr2

238617273

+CAB39chr2

231624673

+
intron-intronENST00000468950ENST00000484398LRRFIP1chr2

238617273

+CAB39chr2

231624673

+

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 LRRFIP1-CAB39


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)
LRRFIP1chr2238617273+CAB39chr2231624673+3.10E-070.99999964
LRRFIP1chr2238617273+CAB39chr2231624673+3.10E-070.99999964

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.
genomic feature of top 1%

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Fusion Protein Features for LRRFIP1-CAB39


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/:238617273/:231624673)
- 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
LRRFIP1

Q32MZ4

CAB39

Q9H9S4

FUNCTION: Transcriptional repressor which preferentially binds to the GC-rich consensus sequence (5'-AGCCCCCGGCG-3') and may regulate expression of TNF, EGFR and PDGFA. May control smooth muscle cells proliferation following artery injury through PDGFA repression. May also bind double-stranded RNA. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding. {ECO:0000269|PubMed:10364563, ECO:0000269|PubMed:14522076, ECO:0000269|PubMed:16199883, ECO:0000269|PubMed:19265123, ECO:0000269|PubMed:9705290}.FUNCTION: Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1 (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 LRRFIP1-CAB39


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 LRRFIP1-CAB39


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 LRRFIP1-CAB39


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 LRRFIP1-CAB39


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