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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-MAPKAPK2 (FusionGDB2 ID:HG4179TG9261)

Fusion Gene Summary for CD46-MAPKAPK2

check button Fusion gene summary
Fusion gene informationFusion gene name: CD46-MAPKAPK2
Fusion gene ID: hg4179tg9261
HgeneTgene
Gene symbol

CD46

MAPKAPK2

Gene ID

4179

9261

Gene nameCD46 moleculeMAPK activated protein kinase 2
SynonymsAHUS2|MCP|MIC10|TLX|TRA2.10MAPKAP-K2|MK-2|MK2
Cytomap('CD46')('MAPKAPK2')

1q32.2

1q32.1

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 (CDMAP kinase-activated protein kinase 2MAPKAP kinase 2mitogen-activated protein kinase-activated protein kinase 2
Modification date2020031320200327
UniProtAcc.

P49137

Ensembl transtripts involved in fusion geneENST00000469535, ENST00000322875, 
ENST00000354848, ENST00000357714, 
ENST00000358170, ENST00000360212, 
ENST00000361067, ENST00000367041, 
ENST00000367042, ENST00000367047, 
ENST00000480003, ENST00000322918, 
ENST00000441839, 
Fusion gene scores* DoF score12 X 12 X 6=8644 X 3 X 4=48
# samples 146
** MAII scorelog2(14/864*10)=-2.6256044852185
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CD46 [Title/Abstract] AND MAPKAPK2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCD46(207959027)-MAPKAPK2(206902055), # samples:2
Anticipated loss of major functional domain due to fusion event.CD46-MAPKAPK2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CD46-MAPKAPK2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
CD46-MAPKAPK2 seems lost the major protein functional domain in Tgene partner, which is a kinase 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
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

TgeneMAPKAPK2

GO:0018105

peptidyl-serine phosphorylation

15850461

TgeneMAPKAPK2

GO:0032680

regulation of tumor necrosis factor production

15014438

TgeneMAPKAPK2

GO:0034097

response to cytokine

8774846

TgeneMAPKAPK2

GO:0070935

3'-UTR-mediated mRNA stabilization

14517288|15014438|20932473



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
ChimerDB4STADTCGA-CG-4449-01ACD46chr1

207959027

-MAPKAPK2chr1

206902055

+
ChimerDB4STADTCGA-CG-4449-01ACD46chr1

207959027

+MAPKAPK2chr1

206902055

+
ChimerDB4STADTCGA-CG-4449CD46chr1

207959027

+MAPKAPK2chr1

206902054

+


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Fusion Gene ORF analysis for CD46-MAPKAPK2

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-3CDSENST00000469535ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
3UTR-3CDSENST00000469535ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
3UTR-3CDSENST00000469535ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
3UTR-3CDSENST00000469535ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
3UTR-intronENST00000469535ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
3UTR-intronENST00000469535ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
5CDS-intronENST00000322875ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
5CDS-intronENST00000322875ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
5CDS-intronENST00000354848ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
5CDS-intronENST00000354848ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
5CDS-intronENST00000357714ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
5CDS-intronENST00000357714ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
5CDS-intronENST00000358170ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
5CDS-intronENST00000358170ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
5CDS-intronENST00000360212ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
5CDS-intronENST00000360212ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
5CDS-intronENST00000361067ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
5CDS-intronENST00000361067ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
5CDS-intronENST00000367041ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
5CDS-intronENST00000367041ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
5CDS-intronENST00000367042ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
5CDS-intronENST00000367042ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
5CDS-intronENST00000367047ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
5CDS-intronENST00000367047ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
5CDS-intronENST00000480003ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
5CDS-intronENST00000480003ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000322875ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000322875ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000322875ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000322875ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000354848ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000354848ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000354848ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000354848ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000357714ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000357714ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000357714ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000357714ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000358170ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000358170ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000358170ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000358170ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000360212ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000360212ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000360212ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000360212ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000361067ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000361067ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000361067ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000361067ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000367041ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000367041ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000367041ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000367041ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000367042ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000367042ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000367042ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000367042ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000367047ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000367047ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000367047ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000367047ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000480003ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000480003ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
Frame-shiftENST00000480003ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
Frame-shiftENST00000480003ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
intron-3CDSENST00000322918ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
intron-3CDSENST00000322918ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
intron-3CDSENST00000322918ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
intron-3CDSENST00000322918ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
intron-3CDSENST00000441839ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
intron-3CDSENST00000441839ENST00000294981CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
intron-3CDSENST00000441839ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
intron-3CDSENST00000441839ENST00000367103CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
intron-intronENST00000322918ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
intron-intronENST00000322918ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902054

+
intron-intronENST00000441839ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902055

+
intron-intronENST00000441839ENST00000479009CD46chr1

207959027

+MAPKAPK2chr1

206902054

+

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-MAPKAPK2


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)
CD46chr1207959027+MAPKAPK2chr1206902054+1.32E-060.9999987
CD46chr1207959027+MAPKAPK2chr1206902054+1.32E-060.9999987
CD46chr1207959027+MAPKAPK2chr1206902054+1.32E-060.9999987
CD46chr1207959027+MAPKAPK2chr1206902054+1.32E-060.9999987


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 CD46-MAPKAPK2


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/:207959027/:206902055)
- 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
.MAPKAPK2

P49137

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: Stress-activated serine/threonine-protein kinase involved in cytokine production, endocytosis, reorganization of the cytoskeleton, cell migration, cell cycle control, chromatin remodeling, DNA damage response and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. Phosphorylates ALOX5, CDC25B, CDC25C, CEP131, ELAVL1, HNRNPA0, HSP27/HSPB1, KRT18, KRT20, LIMK1, LSP1, PABPC1, PARN, PDE4A, RCSD1, RPS6KA3, TAB3 and TTP/ZFP36. Phosphorylates HSF1; leading to the interaction with HSP90 proteins and inhibiting HSF1 homotrimerization, DNA-binding and transactivation activities (PubMed:16278218). Mediates phosphorylation of HSP27/HSPB1 in response to stress, leading to the dissociation of HSP27/HSPB1 from large small heat-shock protein (sHsps) oligomers and impairment of their chaperone activities and ability to protect against oxidative stress effectively. Involved in inflammatory response by regulating tumor necrosis factor (TNF) and IL6 production post-transcriptionally: acts by phosphorylating AU-rich elements (AREs)-binding proteins ELAVL1, HNRNPA0, PABPC1 and TTP/ZFP36, leading to the regulation of the stability and translation of TNF and IL6 mRNAs. Phosphorylation of TTP/ZFP36, a major post-transcriptional regulator of TNF, promotes its binding to 14-3-3 proteins and reduces its ARE mRNA affinity, leading to inhibition of dependent degradation of ARE-containing transcripts. Phosphorylates CEP131 in response to cellular stress induced by ultraviolet irradiation which promotes binding of CEP131 to 14-3-3 proteins and inhibits formation of novel centriolar satellites (PubMed:26616734). Also involved in late G2/M checkpoint following DNA damage through a process of post-transcriptional mRNA stabilization: following DNA damage, relocalizes from nucleus to cytoplasm and phosphorylates HNRNPA0 and PARN, leading to stabilization of GADD45A mRNA. Involved in toll-like receptor signaling pathway (TLR) in dendritic cells: required for acute TLR-induced macropinocytosis by phosphorylating and activating RPS6KA3. {ECO:0000269|PubMed:10383393, ECO:0000269|PubMed:11844797, ECO:0000269|PubMed:12456657, ECO:0000269|PubMed:12565831, ECO:0000269|PubMed:14499342, ECO:0000269|PubMed:14517288, ECO:0000269|PubMed:15014438, ECO:0000269|PubMed:15629715, ECO:0000269|PubMed:16278218, ECO:0000269|PubMed:16456544, ECO:0000269|PubMed:17481585, ECO:0000269|PubMed:18021073, ECO:0000269|PubMed:20932473, ECO:0000269|PubMed:26616734, ECO:0000269|PubMed:8093612, ECO:0000269|PubMed:8280084, ECO:0000269|PubMed:8774846}.

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-MAPKAPK2


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-MAPKAPK2


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-MAPKAPK2


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-MAPKAPK2


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