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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:FRMD4A-TMEM45B (FusionGDB2 ID:31337)

Fusion Gene Summary for FRMD4A-TMEM45B

check button Fusion gene summary
Fusion gene informationFusion gene name: FRMD4A-TMEM45B
Fusion gene ID: 31337
HgeneTgene
Gene symbol

FRMD4A

TMEM45B

Gene ID

55691

120224

Gene nameFERM domain containing 4Atransmembrane protein 45B
SynonymsCCAFCA|FRMD4|bA295P9.4-
Cytomap

10p13

11q24.3

Type of geneprotein-codingprotein-coding
DescriptionFERM domain-containing protein 4AFERM domain containing 4transmembrane protein 45B
Modification date2020031320200313
UniProtAcc

Q9P2Q2

.
Ensembl transtripts involved in fusion geneENST00000357447, ENST00000378503, 
ENST00000475141, ENST00000493380, 
ENST00000342409, ENST00000358621, 
ENST00000492155, 
ENST00000281441, 
ENST00000524567, ENST00000525709, 
Fusion gene scores* DoF score16 X 15 X 7=16805 X 5 X 4=100
# samples 176
** MAII scorelog2(17/1680*10)=-3.30485458152842
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FRMD4A [Title/Abstract] AND TMEM45B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFRMD4A(14372057)-TMEM45B(129722370), # samples:3
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

check buttonFusion gene breakpoints across FRMD4A (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 TMEM45B (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
ChimerDB4OVTCGA-04-1362-01AFRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+


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Fusion Gene ORF analysis for FRMD4A-TMEM45B

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-5UTRENST00000357447ENST00000281441FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
5CDS-5UTRENST00000357447ENST00000524567FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
5CDS-5UTRENST00000378503ENST00000281441FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
5CDS-5UTRENST00000378503ENST00000524567FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
5CDS-5UTRENST00000475141ENST00000281441FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
5CDS-5UTRENST00000475141ENST00000524567FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
5CDS-5UTRENST00000493380ENST00000281441FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
5CDS-5UTRENST00000493380ENST00000524567FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
5CDS-intronENST00000357447ENST00000525709FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
5CDS-intronENST00000378503ENST00000525709FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
5CDS-intronENST00000475141ENST00000525709FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
5CDS-intronENST00000493380ENST00000525709FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
intron-5UTRENST00000342409ENST00000281441FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
intron-5UTRENST00000342409ENST00000524567FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
intron-5UTRENST00000358621ENST00000281441FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
intron-5UTRENST00000358621ENST00000524567FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
intron-5UTRENST00000492155ENST00000281441FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
intron-5UTRENST00000492155ENST00000524567FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
intron-intronENST00000342409ENST00000525709FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
intron-intronENST00000358621ENST00000525709FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+
intron-intronENST00000492155ENST00000525709FRMD4Achr10

14372057

-TMEM45Bchr11

129722370

+

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 FRMD4A-TMEM45B


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)
FRMD4Achr1014372056-TMEM45Bchr11129722369+0.0022771520.9977228
FRMD4Achr1014372056-TMEM45Bchr11129722369+0.0022771520.9977228

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 FRMD4A-TMEM45B


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/:14372057/:129722370)
- 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
FRMD4A

Q9P2Q2

.
FUNCTION: Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling (PubMed:27044754). {ECO:0000250|UniProtKB:Q8BIE6, ECO:0000269|PubMed:27044754}.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 FRMD4A-TMEM45B


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 FRMD4A-TMEM45B


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 FRMD4A-TMEM45B


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 FRMD4A-TMEM45B


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