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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:CCDC40-PLEC (FusionGDB2 ID:13802)

Fusion Gene Summary for CCDC40-PLEC

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC40-PLEC
Fusion gene ID: 13802
HgeneTgene
Gene symbol

CCDC40

PLEC

Gene ID

55036

5339

Gene namecoiled-coil domain containing 40plectin
SynonymsCFAP172|CILD15|FAP172EBS1|EBSMD|EBSND|EBSO|EBSOG|EBSPA|HD1|LGMD2Q|LGMDR17|PCN|PLEC1|PLEC1b|PLTN
Cytomap

17q25.3

8q24.3

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 40plectinhemidesmosomal protein 1plectin 1, intermediate filament binding protein 500kDa
Modification date2020031320200313
UniProtAcc

Q4G0X9

PLEC

Ensembl transtripts involved in fusion geneENST00000269318, ENST00000374876, 
ENST00000374877, ENST00000397545, 
ENST00000573903, 		ENST00000322810, 
ENST00000345136, ENST00000354589, 
ENST00000354958, ENST00000356346, 
ENST00000357649, ENST00000398774, 
ENST00000436759, ENST00000527096, 
Fusion gene scores* DoF score6 X 5 X 4=12010 X 8 X 6=480
# samples 610
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/480*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCDC40 [Title/Abstract] AND PLEC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCDC40(78049426)-PLEC(144989321), # samples:1
PLEC(144989321)-CCDC40(78049426), # 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
TgenePLEC

GO:0031581

hemidesmosome assembly

12482924


check buttonFusion gene breakpoints across CCDC40 (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 PLEC (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
ChiTaRS5.0N/AAA641161CCDC40chr17

78049426

+PLECchr8

144989321

+


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Fusion Gene ORF analysis for CCDC40-PLEC

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
intron-intronENST00000269318ENST00000322810CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000269318ENST00000345136CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000269318ENST00000354589CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000269318ENST00000354958CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000269318ENST00000356346CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000269318ENST00000357649CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000269318ENST00000398774CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000269318ENST00000436759CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000269318ENST00000527096CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374876ENST00000322810CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374876ENST00000345136CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374876ENST00000354589CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374876ENST00000354958CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374876ENST00000356346CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374876ENST00000357649CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374876ENST00000398774CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374876ENST00000436759CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374876ENST00000527096CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374877ENST00000322810CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374877ENST00000345136CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374877ENST00000354589CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374877ENST00000354958CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374877ENST00000356346CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374877ENST00000357649CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374877ENST00000398774CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374877ENST00000436759CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000374877ENST00000527096CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000397545ENST00000322810CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000397545ENST00000345136CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000397545ENST00000354589CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000397545ENST00000354958CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000397545ENST00000356346CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000397545ENST00000357649CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000397545ENST00000398774CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000397545ENST00000436759CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000397545ENST00000527096CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000573903ENST00000322810CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000573903ENST00000345136CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000573903ENST00000354589CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000573903ENST00000354958CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000573903ENST00000356346CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000573903ENST00000357649CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000573903ENST00000398774CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000573903ENST00000436759CCDC40chr17

78049426

+PLECchr8

144989321

+
intron-intronENST00000573903ENST00000527096CCDC40chr17

78049426

+PLECchr8

144989321

+

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 CCDC40-PLEC


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.

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 CCDC40-PLEC


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/:78049426/:144989321)
- 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
CCDC40

Q4G0X9

PLEC

PLEC

FUNCTION: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 (PubMed:21131974). {ECO:0000250|UniProtKB:A8IQT2, ECO:0000269|PubMed:21131974}.4684

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 CCDC40-PLEC


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 CCDC40-PLEC


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 CCDC40-PLEC


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 CCDC40-PLEC


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