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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:CD46-NUCB2 (FusionGDB2 ID:14578)

Fusion Gene Summary for CD46-NUCB2

check button Fusion gene summary
Fusion gene informationFusion gene name: CD46-NUCB2
Fusion gene ID: 14578
HgeneTgene
Gene symbol

CD46

NUCB2

Gene ID

4179

4925

Gene nameCD46 moleculenucleobindin 2
SynonymsAHUS2|MCP|MIC10|TLX|TRA2.10HEL-S-109|NEFA
Cytomap

1q32.2

11p15.1

Type of geneprotein-codingprotein-coding
Descriptionmembrane cofactor proteinCD46 antigen, complement regulatory proteinCD46 molecule, complement regulatory proteinantigen identified by monoclonal antibody TRA-2-10complement membrane cofactor proteinmeasles virus receptormembrane cofactor protein (CDnucleobindin-2DNA-binding protein NEFAepididymis secretory protein Li 109gastric cancer antigen Zg4nesfatin 1novel DNA binding/EF-hand/leucine zipper proteinnucleobinding 2prepronesfatin
Modification date2020031320200329
UniProtAcc

P15529

.
Ensembl transtripts involved in fusion geneENST00000367042, ENST00000354848, 
ENST00000441839, ENST00000322875, 
ENST00000367041, ENST00000358170, 
ENST00000322918, ENST00000361067, 
ENST00000367047, ENST00000357714, 
ENST00000469535, ENST00000360212, 
ENST00000480003, 		ENST00000323688, 
ENST00000529010, ENST00000458064, 
ENST00000532240, 
Fusion gene scores* DoF score12 X 12 X 6=86411 X 12 X 4=528
# samples 1413
** MAII scorelog2(14/864*10)=-2.6256044852185
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/528*10)=-2.02202630633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CD46 [Title/Abstract] AND NUCB2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCD46(207967509)-NUCB2(17336989), # 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
HgeneCD46

GO:0008593

regulation of Notch signaling pathway

23086448

HgeneCD46

GO:0010629

negative regulation of gene expression

23086448

HgeneCD46

GO:0032613

interleukin-10 production

23086448

HgeneCD46

GO:0032733

positive regulation of interleukin-10 production

12540904

HgeneCD46

GO:0035581

sequestering of extracellular ligand from receptor

23086448

HgeneCD46

GO:0042102

positive regulation of T cell proliferation

12540904

HgeneCD46

GO:0043382

positive regulation of memory T cell differentiation

12540904

HgeneCD46

GO:0045591

positive regulation of regulatory T cell differentiation

12540904

HgeneCD46

GO:0071636

positive regulation of transforming growth factor beta production

12540904


check buttonFusion gene breakpoints across CD46 (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 NUCB2 (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/ABF991091CD46chr1

207967509

-NUCB2chr11

17336989

+


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Fusion Gene ORF analysis for CD46-NUCB2

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-3CDSENST00000367042ENST00000323688CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000367042ENST00000529010CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000367042ENST00000458064CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000367042ENST00000532240CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000354848ENST00000323688CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000354848ENST00000529010CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000354848ENST00000458064CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000354848ENST00000532240CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000441839ENST00000323688CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000441839ENST00000529010CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000441839ENST00000458064CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000441839ENST00000532240CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000322875ENST00000323688CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000322875ENST00000529010CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000322875ENST00000458064CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000322875ENST00000532240CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000367041ENST00000323688CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000367041ENST00000529010CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000367041ENST00000458064CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000367041ENST00000532240CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000358170ENST00000323688CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000358170ENST00000529010CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000358170ENST00000458064CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000358170ENST00000532240CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000322918ENST00000323688CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000322918ENST00000529010CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000322918ENST00000458064CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000322918ENST00000532240CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000361067ENST00000323688CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000361067ENST00000529010CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000361067ENST00000458064CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000361067ENST00000532240CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000367047ENST00000323688CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000367047ENST00000529010CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000367047ENST00000458064CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000367047ENST00000532240CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000357714ENST00000323688CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000357714ENST00000529010CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000357714ENST00000458064CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000357714ENST00000532240CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000469535ENST00000323688CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000469535ENST00000529010CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000469535ENST00000458064CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000469535ENST00000532240CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000360212ENST00000323688CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-3CDSENST00000360212ENST00000529010CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000360212ENST00000458064CD46chr1

207967509

-NUCB2chr11

17336989

+
3UTR-intronENST00000360212ENST00000532240CD46chr1

207967509

-NUCB2chr11

17336989

+
intron-3CDSENST00000480003ENST00000323688CD46chr1

207967509

-NUCB2chr11

17336989

+
intron-3CDSENST00000480003ENST00000529010CD46chr1

207967509

-NUCB2chr11

17336989

+
intron-intronENST00000480003ENST00000458064CD46chr1

207967509

-NUCB2chr11

17336989

+
intron-intronENST00000480003ENST00000532240CD46chr1

207967509

-NUCB2chr11

17336989

+

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 CD46-NUCB2


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 CD46-NUCB2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD46

P15529

.
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).FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 CD46-NUCB2


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 CD46-NUCB2


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 CD46-NUCB2


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 CD46-NUCB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD46C2752040HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 26GENOMICS_ENGLAND;UNIPROT
HgeneCD46C2931788Atypical Hemolytic Uremic Syndrome2CTD_human;GENOMICS_ENGLAND
HgeneCD46C0019061Hemolytic-Uremic Syndrome1GENOMICS_ENGLAND
HgeneCD46C0025007Measles1CTD_human
HgeneCD46C0162739HELLP Syndrome1ORPHANET
HgeneCD46C0272242Complement deficiency disease1GENOMICS_ENGLAND
HgeneCD46C3658266Prostatic Cancer, Castration-Resistant1CTD_human
HgeneCD46C3658267Prostatic Neoplasms, Castration-Resistant1CTD_human
HgeneCD46C4087273C3 glomerulopathy1GENOMICS_ENGLAND
TgeneNUCB2C0033578Prostatic Neoplasms1CTD_human
TgeneNUCB2C0376358Malignant neoplasm of prostate1CTD_human