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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:KLHL26-CD46 (FusionGDB2 ID:42984)

Fusion Gene Summary for KLHL26-CD46

check button Fusion gene summary
Fusion gene informationFusion gene name: KLHL26-CD46
Fusion gene ID: 42984
HgeneTgene
Gene symbol

KLHL26

CD46

Gene ID

55295

4179

Gene namekelch like family member 26CD46 molecule
Synonyms-AHUS2|MCP|MIC10|TLX|TRA2.10
Cytomap

19p13.11

1q32.2

Type of geneprotein-codingprotein-coding
Descriptionkelch-like protein 26kelch-like 26membrane cofactor proteinCD46 antigen, complement regulatory proteinCD46 molecule, complement regulatory proteinantigen identified by monoclonal antibody TRA-2-10complement membrane cofactor proteinmeasles virus receptormembrane cofactor protein (CD
Modification date2020031320200313
UniProtAcc.

P15529

Ensembl transtripts involved in fusion geneENST00000300976, ENST00000595182, 
ENST00000599006, ENST00000596843, 
ENST00000360212, ENST00000469535, 
ENST00000480003, ENST00000357714, 
ENST00000367047, ENST00000322875, 
ENST00000322918, ENST00000354848, 
ENST00000358170, ENST00000361067, 
ENST00000367041, ENST00000367042, 
ENST00000441839, 
Fusion gene scores* DoF score7 X 4 X 5=14016 X 13 X 7=1456
# samples 817
** MAII scorelog2(8/140*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/1456*10)=-3.098403704061
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KLHL26 [Title/Abstract] AND CD46 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKLHL26(18747947)-CD46(207930359), # samples:1
Anticipated loss of major functional domain due to fusion event.KLHL26-CD46 seems lost the major protein functional domain in Hgene 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
TgeneCD46

GO:0008593

regulation of Notch signaling pathway

23086448

TgeneCD46

GO:0010629

negative regulation of gene expression

23086448

TgeneCD46

GO:0032613

interleukin-10 production

23086448

TgeneCD46

GO:0032733

positive regulation of interleukin-10 production

12540904

TgeneCD46

GO:0035581

sequestering of extracellular ligand from receptor

23086448

TgeneCD46

GO:0042102

positive regulation of T cell proliferation

12540904

TgeneCD46

GO:0043382

positive regulation of memory T cell differentiation

12540904

TgeneCD46

GO:0045591

positive regulation of regulatory T cell differentiation

12540904

TgeneCD46

GO:0071636

positive regulation of transforming growth factor beta production

12540904


check buttonFusion gene breakpoints across KLHL26 (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 CD46 (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
ChimerDB4BRCATCGA-AC-A2B8-01AKLHL26chr19

18747947

+CD46chr1

207930359

+


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Fusion Gene ORF analysis for KLHL26-CD46

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-3UTRENST00000300976ENST00000360212KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-3UTRENST00000300976ENST00000469535KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-3UTRENST00000300976ENST00000480003KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-3UTRENST00000595182ENST00000360212KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-3UTRENST00000595182ENST00000469535KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-3UTRENST00000595182ENST00000480003KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-3UTRENST00000599006ENST00000360212KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-3UTRENST00000599006ENST00000469535KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-3UTRENST00000599006ENST00000480003KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-intronENST00000300976ENST00000357714KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-intronENST00000300976ENST00000367047KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-intronENST00000595182ENST00000357714KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-intronENST00000595182ENST00000367047KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-intronENST00000599006ENST00000357714KLHL26chr19

18747947

+CD46chr1

207930359

+
5CDS-intronENST00000599006ENST00000367047KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000300976ENST00000322875KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000300976ENST00000322918KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000300976ENST00000354848KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000300976ENST00000358170KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000300976ENST00000361067KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000300976ENST00000367041KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000300976ENST00000367042KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000300976ENST00000441839KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000595182ENST00000322875KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000595182ENST00000322918KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000595182ENST00000354848KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000595182ENST00000358170KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000595182ENST00000361067KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000595182ENST00000367041KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000595182ENST00000367042KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000595182ENST00000441839KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000599006ENST00000322875KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000599006ENST00000322918KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000599006ENST00000354848KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000599006ENST00000358170KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000599006ENST00000361067KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000599006ENST00000367041KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000599006ENST00000367042KLHL26chr19

18747947

+CD46chr1

207930359

+
Frame-shiftENST00000599006ENST00000441839KLHL26chr19

18747947

+CD46chr1

207930359

+
intron-3CDSENST00000596843ENST00000322875KLHL26chr19

18747947

+CD46chr1

207930359

+
intron-3CDSENST00000596843ENST00000322918KLHL26chr19

18747947

+CD46chr1

207930359

+
intron-3CDSENST00000596843ENST00000354848KLHL26chr19

18747947

+CD46chr1

207930359

+
intron-3CDSENST00000596843ENST00000358170KLHL26chr19

18747947

+CD46chr1

207930359

+
intron-3CDSENST00000596843ENST00000361067KLHL26chr19

18747947

+CD46chr1

207930359

+
intron-3CDSENST00000596843ENST00000367041KLHL26chr19

18747947

+CD46chr1

207930359

+
intron-3CDSENST00000596843ENST00000367042KLHL26chr19

18747947

+CD46chr1

207930359

+
intron-3CDSENST00000596843ENST00000441839KLHL26chr19

18747947

+CD46chr1

207930359

+
intron-3UTRENST00000596843ENST00000360212KLHL26chr19

18747947

+CD46chr1

207930359

+
intron-3UTRENST00000596843ENST00000469535KLHL26chr19

18747947

+CD46chr1

207930359

+
intron-3UTRENST00000596843ENST00000480003KLHL26chr19

18747947

+CD46chr1

207930359

+
intron-intronENST00000596843ENST00000357714KLHL26chr19

18747947

+CD46chr1

207930359

+
intron-intronENST00000596843ENST00000367047KLHL26chr19

18747947

+CD46chr1

207930359

+

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 KLHL26-CD46


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)
KLHL26chr1918747947+CD46chr1207930358+0.0013535520.99864644
KLHL26chr1918747947+CD46chr1207930358+0.0013535520.99864644

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 KLHL26-CD46


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/:18747947/:207930359)
- 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
.CD46

P15529

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: Acts as a cofactor for complement factor I, a serine protease which protects autologous cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1 cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore are thought to prevent autoimmunity. {ECO:0000269|PubMed:10843656, ECO:0000269|PubMed:12540904}.; FUNCTION: (Microbial infection) A number of viral and bacterial pathogens seem to bind MCP in order to exploit its immune regulation property and directly induce an immunosuppressive phenotype in T-cells.; FUNCTION: (Microbial infection) Acts as a receptor for Adenovirus subgroup B2 and Ad3. {ECO:0000269|PubMed:12915534, ECO:0000269|PubMed:14566335, ECO:0000269|PubMed:15047806, ECO:0000269|PubMed:15078926, ECO:0000269|PubMed:15919905, ECO:0000269|PubMed:16254377}.; FUNCTION: (Microbial infection) Acts as a receptor for cultured Measles virus. {ECO:0000269|PubMed:10972291}.; FUNCTION: (Microbial infection) Acts as a receptor for Herpesvirus 6/HHV-6. {ECO:0000269|PubMed:12663806, ECO:0000269|PubMed:12724329}.; FUNCTION: (Microbial infection) May act as a receptor for pathogenic bacteria Neisseria and Streptococcus pyogenes (PubMed:7708671, PubMed:9379894, PubMed:11260136, PubMed:11971006).

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 KLHL26-CD46


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 KLHL26-CD46


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 KLHL26-CD46


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 KLHL26-CD46


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