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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:SLC35C2-ELMO2 (FusionGDB2 ID:82959)

Fusion Gene Summary for SLC35C2-ELMO2

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC35C2-ELMO2
Fusion gene ID: 82959
HgeneTgene
Gene symbol

SLC35C2

ELMO2

Gene ID

51006

63916

Gene namesolute carrier family 35 member C2engulfment and cell motility 2
SynonymsBA394O2.1|C20orf5|CGI-15|OVCOV1CED-12|CED12|Ced-12A|ELMO-2|VMPI
Cytomap

20q13.12

20q13.12

Type of geneprotein-codingprotein-coding
Descriptionsolute carrier family 35 member C2ovarian cancer-overexpressed gene 1 proteinsolute carrier family 35 (GDP-fucose transporter), member C2engulfment and cell motility protein 2PH domain protein CED12Aced-12 homolog 2protein ced-12 homolog A
Modification date2020031320200313
UniProtAcc.

Q96JJ3

Ensembl transtripts involved in fusion geneENST00000243896, ENST00000317734, 
ENST00000372227, ENST00000372229, 
ENST00000372230, ENST00000543605, 
ENST00000493599, 
ENST00000488853, 
ENST00000290246, ENST00000352077, 
ENST00000396391, ENST00000439931, 
ENST00000445496, ENST00000454865, 
ENST00000372176, 
Fusion gene scores* DoF score3 X 4 X 3=363 X 4 X 2=24
# samples 44
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SLC35C2 [Title/Abstract] AND ELMO2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSLC35C2(44983521)-ELMO2(44996199), # samples:1
Anticipated loss of major functional domain due to fusion event.SLC35C2-ELMO2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
SLC35C2-ELMO2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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 SLC35C2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ELMO2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4SKCMTCGA-FS-A1YX-06ASLC35C2chr20

44983521

-ELMO2chr20

44996199

-


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Fusion Gene ORF analysis for SLC35C2-ELMO2

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-intronENST00000243896ENST00000488853SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
5CDS-intronENST00000317734ENST00000488853SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
5CDS-intronENST00000372227ENST00000488853SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
5CDS-intronENST00000372229ENST00000488853SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
5CDS-intronENST00000372230ENST00000488853SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
5CDS-intronENST00000543605ENST00000488853SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000243896ENST00000290246SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000243896ENST00000352077SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000243896ENST00000396391SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000243896ENST00000439931SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000243896ENST00000445496SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000243896ENST00000454865SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000317734ENST00000290246SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000317734ENST00000352077SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000317734ENST00000396391SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000317734ENST00000439931SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000317734ENST00000445496SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000317734ENST00000454865SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372227ENST00000290246SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372227ENST00000352077SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372227ENST00000372176SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372227ENST00000396391SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372227ENST00000439931SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372227ENST00000445496SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372229ENST00000290246SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372229ENST00000352077SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372229ENST00000396391SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372229ENST00000439931SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372229ENST00000445496SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372229ENST00000454865SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372230ENST00000290246SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372230ENST00000352077SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372230ENST00000396391SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372230ENST00000439931SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372230ENST00000445496SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000372230ENST00000454865SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000543605ENST00000290246SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000543605ENST00000352077SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000543605ENST00000396391SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000543605ENST00000439931SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000543605ENST00000445496SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
Frame-shiftENST00000543605ENST00000454865SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
In-frameENST00000243896ENST00000372176SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
In-frameENST00000317734ENST00000372176SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
In-frameENST00000372227ENST00000454865SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
In-frameENST00000372229ENST00000372176SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
In-frameENST00000372230ENST00000372176SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
In-frameENST00000543605ENST00000372176SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
intron-3CDSENST00000493599ENST00000290246SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
intron-3CDSENST00000493599ENST00000352077SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
intron-3CDSENST00000493599ENST00000372176SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
intron-3CDSENST00000493599ENST00000396391SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
intron-3CDSENST00000493599ENST00000439931SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
intron-3CDSENST00000493599ENST00000445496SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
intron-3CDSENST00000493599ENST00000454865SLC35C2chr20

44983521

-ELMO2chr20

44996199

-
intron-intronENST00000493599ENST00000488853SLC35C2chr20

44983521

-ELMO2chr20

44996199

-

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 SLC35C2-ELMO2


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.
genomic feature

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 SLC35C2-ELMO2


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/chr20:44983521/chr20:44996199)
- 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
.ELMO2

Q96JJ3

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: Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1. {ECO:0000269|PubMed:11595183, ECO:0000269|PubMed:11703939, ECO:0000269|PubMed:20679435, ECO:0000269|PubMed:27476657}.

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
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000243896-710104_124220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000243896-710136_156220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000243896-71014_34220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000243896-710158_178220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000243896-710202_222220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000243896-71042_62220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000317734-710104_124199345.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000317734-710136_156199345.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000317734-71014_34199345.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000317734-710158_178199345.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000317734-71042_62199345.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372227-710104_124220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372227-710136_156220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372227-71014_34220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372227-710158_178220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372227-710202_222220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372227-71042_62220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372230-710104_124220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372230-710136_156220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372230-71014_34220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372230-710158_178220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372230-710202_222220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372230-71042_62220366.0TransmembraneHelical
TgeneELMO2chr20:44983521chr20:44996199ENST000002902462022700_707654721.0MotifNote=SH3-binding
TgeneELMO2chr20:44983521chr20:44996199ENST000003963911921700_707654721.0MotifNote=SH3-binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000243896-710242_262220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000243896-710294_316220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000317734-710202_222199345.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000317734-710242_262199345.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000317734-710294_316199345.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372227-710242_262220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372227-710294_316220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372230-710242_262220366.0TransmembraneHelical
HgeneSLC35C2chr20:44983521chr20:44996199ENST00000372230-710294_316220366.0TransmembraneHelical
TgeneELMO2chr20:44983521chr20:44996199ENST000002902462022311_485654721.0DomainELMO
TgeneELMO2chr20:44983521chr20:44996199ENST000002902462022553_674654721.0DomainNote=PH
TgeneELMO2chr20:44983521chr20:44996199ENST000003963911921311_485654721.0DomainELMO
TgeneELMO2chr20:44983521chr20:44996199ENST000003963911921553_674654721.0DomainNote=PH


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Fusion Gene Sequence for SLC35C2-ELMO2


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 SLC35C2-ELMO2


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 SLC35C2-ELMO2


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 SLC35C2-ELMO2


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