FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:CD46-PDC (FusionGDB2 ID:14535)

Fusion Gene Summary for CD46-PDC

check button Fusion gene summary
Fusion gene informationFusion gene name: CD46-PDC
Fusion gene ID: 14535
HgeneTgene
Gene symbol

CD46

PDC

Gene ID

4179

25953

Gene nameCD46 moleculePNKD metallo-beta-lactamase domain containing
SynonymsAHUS2|MCP|MIC10|TLX|TRA2.10BRP17|DYT8|FKSG19|FPD1|KIPP1184|MR-1|MR-1S|MR1|PDC|PKND1|PNKD1|R1|TAHCCP2
Cytomap

1q32.2

2q35

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 (CDprobable hydrolase PNKDPNKD, MBL domain containingbrain protein 17myofibrillogenesis regulator 1trans-activated by hepatitis C virus core protein 2
Modification date2020031320200313
UniProtAcc

P15529

O75340

Ensembl transtripts involved in fusion geneENST00000469535, ENST00000322875, 
ENST00000322918, ENST00000354848, 
ENST00000357714, ENST00000358170, 
ENST00000360212, ENST00000361067, 
ENST00000367041, ENST00000367042, 
ENST00000367047, ENST00000441839, 
ENST00000480003, 		ENST00000391997, 
ENST00000340129, ENST00000456239, 
ENST00000497198, 
Fusion gene scores* DoF score12 X 12 X 6=8642 X 2 X 2=8
# samples 142
** MAII scorelog2(14/864*10)=-2.6256044852185
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

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

Most frequent breakpointCD46(207925654)-PDC(186418615), # 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 PDC (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-AN-A0XV-01ACD46chr1

207925654

+PDCchr1

186418615

-


Top

Fusion Gene ORF analysis for CD46-PDC

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-5UTRENST00000469535ENST00000391997CD46chr1

207925654

+PDCchr1

186418615

-
3UTR-intronENST00000469535ENST00000340129CD46chr1

207925654

+PDCchr1

186418615

-
3UTR-intronENST00000469535ENST00000456239CD46chr1

207925654

+PDCchr1

186418615

-
3UTR-intronENST00000469535ENST00000497198CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-5UTRENST00000322875ENST00000391997CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-5UTRENST00000322918ENST00000391997CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-5UTRENST00000354848ENST00000391997CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-5UTRENST00000357714ENST00000391997CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-5UTRENST00000358170ENST00000391997CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-5UTRENST00000360212ENST00000391997CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-5UTRENST00000361067ENST00000391997CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-5UTRENST00000367041ENST00000391997CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-5UTRENST00000367042ENST00000391997CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-5UTRENST00000367047ENST00000391997CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-5UTRENST00000441839ENST00000391997CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-5UTRENST00000480003ENST00000391997CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000322875ENST00000340129CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000322875ENST00000456239CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000322875ENST00000497198CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000322918ENST00000340129CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000322918ENST00000456239CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000322918ENST00000497198CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000354848ENST00000340129CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000354848ENST00000456239CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000354848ENST00000497198CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000357714ENST00000340129CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000357714ENST00000456239CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000357714ENST00000497198CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000358170ENST00000340129CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000358170ENST00000456239CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000358170ENST00000497198CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000360212ENST00000340129CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000360212ENST00000456239CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000360212ENST00000497198CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000361067ENST00000340129CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000361067ENST00000456239CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000361067ENST00000497198CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000367041ENST00000340129CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000367041ENST00000456239CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000367041ENST00000497198CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000367042ENST00000340129CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000367042ENST00000456239CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000367042ENST00000497198CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000367047ENST00000340129CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000367047ENST00000456239CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000367047ENST00000497198CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000441839ENST00000340129CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000441839ENST00000456239CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000441839ENST00000497198CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000480003ENST00000340129CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000480003ENST00000456239CD46chr1

207925654

+PDCchr1

186418615

-
5CDS-intronENST00000480003ENST00000497198CD46chr1

207925654

+PDCchr1

186418615

-

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

Top

Fusion Genomic Features for CD46-PDC


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.

Top

Fusion Protein Features for CD46-PDC


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/:207925654/:186418615)
- 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

PDC

O75340

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: Calcium sensor that plays a key role in processes such as endoplasmic reticulum (ER)-Golgi vesicular transport, endosomal biogenesis or membrane repair. Acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium: calcium-binding triggers exposure of apolar surface, promoting interaction with different sets of proteins thanks to 3 different hydrophobic pockets, leading to translocation to membranes (PubMed:20691033, PubMed:25667979). Involved in ER-Golgi transport by promoting the association between PDCD6IP and TSG101, thereby bridging together the ESCRT-III and ESCRT-I complexes (PubMed:19520058). Together with PEF1, acts as calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in ER-Golgi transport by regulating the size of COPII coats (PubMed:27716508). In response to cytosolic calcium increase, the heterodimer formed with PEF1 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (PubMed:27716508). Involved in the regulation of the distribution and function of MCOLN1 in the endosomal pathway (PubMed:19864416). Promotes localization and polymerization of TFG at endoplasmic reticulum exit site (PubMed:27813252). Required for T-cell receptor-, Fas-, and glucocorticoid-induced apoptosis (By similarity). May mediate Ca(2+)-regulated signals along the death pathway: interaction with DAPK1 can accelerate apoptotic cell death by increasing caspase-3 activity (PubMed:16132846). Its role in apoptosis may however be indirect, as suggested by knockout experiments (By similarity). May inhibit KDR/VEGFR2-dependent angiogenesis; the function involves inhibition of VEGF-induced phosphorylation of the Akt signaling pathway (PubMed:21893193). In case of infection by HIV-1 virus, indirectly inhibits HIV-1 production by affecting viral Gag expression and distribution (PubMed:27784779). {ECO:0000250|UniProtKB:P12815, ECO:0000269|PubMed:16132846, ECO:0000269|PubMed:19520058, ECO:0000269|PubMed:19864416, ECO:0000269|PubMed:20691033, ECO:0000269|PubMed:21893193, ECO:0000269|PubMed:25667979, ECO:0000269|PubMed:27716508, ECO:0000269|PubMed:27784779, ECO:0000269|PubMed:27813252}.; FUNCTION: [Isoform 2]: Has a lower Ca(2+) affinity than isoform 1 (By similarity). {ECO:0000250|UniProtKB:P12815}.

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


Top

Fusion Gene Sequence for CD46-PDC


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.

Top

Fusion Gene PPI Analysis for CD46-PDC


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


Top

Related Drugs for CD46-PDC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for CD46-PDC


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