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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:CDC42SE2-LYRM7 (FusionGDB2 ID:14910)

Fusion Gene Summary for CDC42SE2-LYRM7

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC42SE2-LYRM7
Fusion gene ID: 14910
HgeneTgene
Gene symbol

CDC42SE2

LYRM7

Gene ID

56990

90624

Gene nameCDC42 small effector 2LYR motif containing 7
SynonymsSPEC2C5orf31|MC3DN8|MZM1L
Cytomap

5q31.1

5q23.3-q31.1

Type of geneprotein-codingprotein-coding
DescriptionCDC42 small effector protein 2non-kinase Cdc42 effector protein SPEC2small effector of CDC42 protein 2complex III assembly factor LYRM7LYR motif-containing protein 7Lyrm7 homolog
Modification date2020031320200313
UniProtAcc

Q9NRR3

Q5U5X0

Ensembl transtripts involved in fusion geneENST00000504701, ENST00000360515, 
ENST00000395246, ENST00000503291, 
ENST00000505065, 
ENST00000379380, 
ENST00000507584, ENST00000510516, 
ENST00000521227, 
Fusion gene scores* DoF score6 X 5 X 4=1202 X 2 X 2=8
# samples 72
** MAII scorelog2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: CDC42SE2 [Title/Abstract] AND LYRM7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDC42SE2(130599859)-LYRM7(130515788), # 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
HgeneCDC42SE2

GO:0009966

regulation of signal transduction

10816584

TgeneLYRM7

GO:0034551

mitochondrial respiratory chain complex III assembly

23168492

TgeneLYRM7

GO:0045333

cellular respiration

23168492


check buttonFusion gene breakpoints across CDC42SE2 (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 LYRM7 (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
ChimerDB4LUADTCGA-44-4112-01ACDC42SE2chr5

130599859

+LYRM7chr5

130515788

+


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Fusion Gene ORF analysis for CDC42SE2-LYRM7

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
3UTR-3CDSENST00000504701ENST00000379380CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
3UTR-3CDSENST00000504701ENST00000507584CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
3UTR-3CDSENST00000504701ENST00000510516CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
3UTR-intronENST00000504701ENST00000521227CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-3CDSENST00000360515ENST00000379380CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-3CDSENST00000360515ENST00000507584CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-3CDSENST00000360515ENST00000510516CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-3CDSENST00000395246ENST00000379380CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-3CDSENST00000395246ENST00000507584CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-3CDSENST00000395246ENST00000510516CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-3CDSENST00000503291ENST00000379380CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-3CDSENST00000503291ENST00000507584CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-3CDSENST00000503291ENST00000510516CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-3CDSENST00000505065ENST00000379380CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-3CDSENST00000505065ENST00000507584CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-3CDSENST00000505065ENST00000510516CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-intronENST00000360515ENST00000521227CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-intronENST00000395246ENST00000521227CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-intronENST00000503291ENST00000521227CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+
5UTR-intronENST00000505065ENST00000521227CDC42SE2chr5

130599859

+LYRM7chr5

130515788

+

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 CDC42SE2-LYRM7


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)
CDC42SE2chr5130599859+LYRM7chr5130515787+9.37E-091
CDC42SE2chr5130599859+LYRM7chr5130515787+9.37E-091

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 CDC42SE2-LYRM7


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/:130599859/:130515788)
- 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
CDC42SE2

Q9NRR3

LYRM7

Q5U5X0

FUNCTION: Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages. {ECO:0000269|PubMed:10816584, ECO:0000269|PubMed:15840583}.FUNCTION: Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane. {ECO:0000269|PubMed:23168492}.

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 CDC42SE2-LYRM7


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 CDC42SE2-LYRM7


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 CDC42SE2-LYRM7


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 CDC42SE2-LYRM7


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