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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:ARHGEF10L-CSDE1 (FusionGDB2 ID:HG55160TG7812)

Fusion Gene Summary for ARHGEF10L-CSDE1

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF10L-CSDE1
Fusion gene ID: hg55160tg7812
HgeneTgene
Gene symbol

ARHGEF10L

CSDE1

Gene ID

55160

7812

Gene nameRho guanine nucleotide exchange factor 10 likecold shock domain containing E1
SynonymsGrinchGEFD1S155E|UNR
Cytomap('ARHGEF10L')('CSDE1')

1p36.13

1p13.2

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 10-like proteinRho guanine nucleotide exchange factor (GEF) 10-likecold shock domain-containing protein E1N-ras upstream gene proteinNRAS-relatedcold shock domain containing E1, RNA bindingupstream of NRAS
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000469726, ENST00000167825, 
ENST00000361221, ENST00000375408, 
ENST00000375415, ENST00000434513, 
ENST00000452522, ENST00000375420, 
Fusion gene scores* DoF score12 X 12 X 12=172818 X 14 X 7=1764
# samples 1719
** MAII scorelog2(17/1728*10)=-3.34549656602577
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(19/1764*10)=-3.21477923722657
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGEF10L [Title/Abstract] AND CSDE1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGEF10L(18014242)-CSDE1(115292828), # samples:2
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
HgeneARHGEF10L

GO:0032933

SREBP signaling pathway

16112081

HgeneARHGEF10L

GO:0051496

positive regulation of stress fiber assembly

16112081



check button Fusion gene information
* 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
ChimerDB4BRCATCGA-B6-A402-01AARHGEF10Lchr1

18014242

-CSDE1chr1

115292828

-
ChimerDB4BRCATCGA-B6-A402-01AARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-


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Fusion Gene ORF analysis for ARHGEF10L-CSDE1

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-5UTRENST00000469726ENST00000339438ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
3UTR-5UTRENST00000469726ENST00000358528ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
3UTR-5UTRENST00000469726ENST00000369530ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
3UTR-5UTRENST00000469726ENST00000530886ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
3UTR-intronENST00000469726ENST00000261443ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
3UTR-intronENST00000469726ENST00000438362ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
3UTR-intronENST00000469726ENST00000483407ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
3UTR-intronENST00000469726ENST00000534699ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000167825ENST00000339438ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000167825ENST00000358528ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000167825ENST00000369530ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000167825ENST00000530886ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000361221ENST00000339438ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000361221ENST00000358528ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000361221ENST00000369530ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000361221ENST00000530886ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000375408ENST00000339438ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000375408ENST00000358528ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000375408ENST00000369530ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000375408ENST00000530886ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000375415ENST00000339438ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000375415ENST00000358528ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000375415ENST00000369530ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000375415ENST00000530886ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000434513ENST00000339438ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000434513ENST00000358528ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000434513ENST00000369530ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000434513ENST00000530886ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000452522ENST00000339438ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000452522ENST00000358528ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000452522ENST00000369530ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-5UTRENST00000452522ENST00000530886ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000167825ENST00000261443ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000167825ENST00000438362ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000167825ENST00000483407ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000167825ENST00000534699ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000361221ENST00000261443ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000361221ENST00000438362ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000361221ENST00000483407ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000361221ENST00000534699ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000375408ENST00000261443ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000375408ENST00000438362ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000375408ENST00000483407ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000375408ENST00000534699ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000375415ENST00000261443ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000375415ENST00000438362ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000375415ENST00000483407ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000375415ENST00000534699ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000434513ENST00000261443ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000434513ENST00000438362ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000434513ENST00000483407ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000434513ENST00000534699ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000452522ENST00000261443ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000452522ENST00000438362ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000452522ENST00000483407ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
5CDS-intronENST00000452522ENST00000534699ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
intron-5UTRENST00000375420ENST00000339438ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
intron-5UTRENST00000375420ENST00000358528ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
intron-5UTRENST00000375420ENST00000369530ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
intron-5UTRENST00000375420ENST00000530886ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
intron-intronENST00000375420ENST00000261443ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
intron-intronENST00000375420ENST00000438362ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
intron-intronENST00000375420ENST00000483407ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-
intron-intronENST00000375420ENST00000534699ARHGEF10Lchr1

18014242

+CSDE1chr1

115292828

-

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 ARHGEF10L-CSDE1


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)


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Fusion Protein Features for ARHGEF10L-CSDE1


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/:18014242/:115292828)
- 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
..
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: 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 ARHGEF10L-CSDE1


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 ARHGEF10L-CSDE1


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 ARHGEF10L-CSDE1


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 ARHGEF10L-CSDE1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0004352Autistic Disorder1GENOMICS_ENGLAND
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND