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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:MAPKAPK5-ALDH2 (FusionGDB2 ID:51620)

Fusion Gene Summary for MAPKAPK5-ALDH2

check button Fusion gene summary
Fusion gene informationFusion gene name: MAPKAPK5-ALDH2
Fusion gene ID: 51620
HgeneTgene
Gene symbol

MAPKAPK5

ALDH2

Gene ID

8550

217

Gene nameMAPK activated protein kinase 5aldehyde dehydrogenase 2 family member
SynonymsMAPKAP-K5|MK-5|MK5|PRAKALDH-E2|ALDHI|ALDM
Cytomap

12q24.12-q24.13

12q24.12

Type of geneprotein-codingprotein-coding
DescriptionMAP kinase-activated protein kinase 5MAPKAP kinase 5MAPKAPK-5mitogen-activated protein kinase-activated protein kinase 5p38-regulated/activated protein kinasealdehyde dehydrogenase, mitochondrialALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase 2 family (mitochondrial)epididymis secretory sperm binding proteinliver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2
Modification date2020031320200313
UniProtAcc

Q8IW41

P05091

Ensembl transtripts involved in fusion geneENST00000546394, ENST00000550735, 
ENST00000551404, ENST00000547305, 
ENST00000261733, ENST00000416293, 
Fusion gene scores* DoF score13 X 12 X 10=15606 X 9 X 7=378
# samples 208
** MAII scorelog2(20/1560*10)=-2.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/378*10)=-2.24031432933371
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAPKAPK5 [Title/Abstract] AND ALDH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAPKAPK5(112280573)-ALDH2(112241663), # samples:3
MAPKAPK5(112280573)-ALDH2(112237710), # samples:3
Anticipated loss of major functional domain due to fusion event.MAPKAPK5-ALDH2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MAPKAPK5-ALDH2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
MAPKAPK5-ALDH2 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
MAPKAPK5-ALDH2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
MAPKAPK5-ALDH2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
MAPKAPK5-ALDH2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneMAPKAPK5

GO:0006417

regulation of translation

21329882

HgeneMAPKAPK5

GO:0007265

Ras protein signal transduction

17254968

HgeneMAPKAPK5

GO:0046777

protein autophosphorylation

21329882

HgeneMAPKAPK5

GO:0090400

stress-induced premature senescence

17254968


check buttonFusion gene breakpoints across MAPKAPK5 (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 ALDH2 (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
ChimerDB4ACCTCGA-OR-A5J7-01AMAPKAPK5chr12

112280573

-ALDH2chr12

112241663

+
ChimerDB4ACCTCGA-OR-A5J7-01AMAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
ChimerDB4LUADTCGA-86-8054-01AMAPKAPK5chr12

112280573

-ALDH2chr12

112237710

+
ChimerDB4LUADTCGA-86-8054-01AMAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
ChimerDB4STADTCGA-BR-A452-01AMAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
ChimerDB4STADTCGA-BR-A452-01AMAPKAPK5chr12

112321572

+ALDH2chr12

112213409

+


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Fusion Gene ORF analysis for MAPKAPK5-ALDH2

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-3CDSENST00000546394ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
3UTR-3CDSENST00000546394ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
3UTR-3CDSENST00000546394ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
3UTR-3CDSENST00000546394ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
5CDS-intronENST00000550735ENST00000261733MAPKAPK5chr12

112321572

+ALDH2chr12

112213409

+
5CDS-intronENST00000550735ENST00000416293MAPKAPK5chr12

112321572

+ALDH2chr12

112213409

+
5CDS-intronENST00000551404ENST00000261733MAPKAPK5chr12

112321572

+ALDH2chr12

112213409

+
5CDS-intronENST00000551404ENST00000416293MAPKAPK5chr12

112321572

+ALDH2chr12

112213409

+
Frame-shiftENST00000547305ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
Frame-shiftENST00000547305ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
Frame-shiftENST00000550735ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
Frame-shiftENST00000550735ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
Frame-shiftENST00000551404ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
Frame-shiftENST00000551404ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
In-frameENST00000547305ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
In-frameENST00000547305ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
In-frameENST00000550735ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
In-frameENST00000550735ENST00000261733MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
In-frameENST00000550735ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
In-frameENST00000550735ENST00000416293MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
In-frameENST00000551404ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
In-frameENST00000551404ENST00000261733MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
In-frameENST00000551404ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
In-frameENST00000551404ENST00000416293MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
intron-3CDSENST00000546394ENST00000261733MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
intron-3CDSENST00000546394ENST00000416293MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
intron-3CDSENST00000547305ENST00000261733MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
intron-3CDSENST00000547305ENST00000416293MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
intron-intronENST00000546394ENST00000261733MAPKAPK5chr12

112321572

+ALDH2chr12

112213409

+
intron-intronENST00000546394ENST00000416293MAPKAPK5chr12

112321572

+ALDH2chr12

112213409

+
intron-intronENST00000547305ENST00000261733MAPKAPK5chr12

112321572

+ALDH2chr12

112213409

+
intron-intronENST00000547305ENST00000416293MAPKAPK5chr12

112321572

+ALDH2chr12

112213409

+

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 MAPKAPK5-ALDH2


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.
genomic feature of top 1%

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Fusion Protein Features for MAPKAPK5-ALDH2


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/chr12:112280573/chr12:112241663)
- 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
MAPKAPK5

Q8IW41

ALDH2

P05091

FUNCTION: Tumor suppressor serine/threonine-protein kinase involved in mTORC1 signaling and post-transcriptional regulation. Phosphorylates FOXO3, ERK3/MAPK6, ERK4/MAPK4, HSP27/HSPB1, p53/TP53 and RHEB. Acts as a tumor suppressor by mediating Ras-induced senescence and phosphorylating p53/TP53. Involved in post-transcriptional regulation of MYC by mediating phosphorylation of FOXO3: phosphorylation of FOXO3 leads to promote nuclear localization of FOXO3, enabling expression of miR-34b and miR-34c, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent MYC translation. Acts as a negative regulator of mTORC1 signaling by mediating phosphorylation and inhibition of RHEB. Part of the atypical MAPK signaling via its interaction with ERK3/MAPK6 or ERK4/MAPK4: the precise role of the complex formed with ERK3/MAPK6 or ERK4/MAPK4 is still unclear, but the complex follows a complex set of phosphorylation events: upon interaction with atypical MAPK (ERK3/MAPK6 or ERK4/MAPK4), ERK3/MAPK6 (or ERK4/MAPK4) is phosphorylated and then mediates phosphorylation and activation of MAPKAPK5, which in turn phosphorylates ERK3/MAPK6 (or ERK4/MAPK4). Mediates phosphorylation of HSP27/HSPB1 in response to PKA/PRKACA stimulation, inducing F-actin rearrangement. {ECO:0000269|PubMed:17254968, ECO:0000269|PubMed:17728103, ECO:0000269|PubMed:19166925, ECO:0000269|PubMed:21329882, ECO:0000269|PubMed:9628874}.

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
HgeneMAPKAPK5chr12:112318331chr12:112219722ENST00000550735+81428_36220472.0Nucleotide bindingATP
HgeneMAPKAPK5chr12:112318331chr12:112219722ENST00000551404+81428_36220474.0Nucleotide bindingATP
TgeneALDH2chr12:112318331chr12:112219722ENST00000261733013262_26738518.0Nucleotide bindingNAD
TgeneALDH2chr12:112318331chr12:112219722ENST00000416293012262_26738471.0Nucleotide bindingNAD

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMAPKAPK5chr12:112280573chr12:112237710ENST00000550735+114409_44012472.0Coiled coilOntology_term=ECO:0000255
HgeneMAPKAPK5chr12:112280573chr12:112237710ENST00000551404+114409_44012474.0Coiled coilOntology_term=ECO:0000255
HgeneMAPKAPK5chr12:112318331chr12:112219722ENST00000550735+814409_440220472.0Coiled coilOntology_term=ECO:0000255
HgeneMAPKAPK5chr12:112318331chr12:112219722ENST00000551404+814409_440220474.0Coiled coilOntology_term=ECO:0000255
HgeneMAPKAPK5chr12:112280573chr12:112237710ENST00000550735+11422_30412472.0DomainProtein kinase
HgeneMAPKAPK5chr12:112280573chr12:112237710ENST00000551404+11422_30412474.0DomainProtein kinase
HgeneMAPKAPK5chr12:112318331chr12:112219722ENST00000550735+81422_304220472.0DomainProtein kinase
HgeneMAPKAPK5chr12:112318331chr12:112219722ENST00000551404+81422_304220474.0DomainProtein kinase
HgeneMAPKAPK5chr12:112280573chr12:112237710ENST00000550735+11428_3612472.0Nucleotide bindingATP
HgeneMAPKAPK5chr12:112280573chr12:112237710ENST00000551404+11428_3612474.0Nucleotide bindingATP
TgeneALDH2chr12:112280573chr12:112237710ENST00000261733913262_267416518.0Nucleotide bindingNAD
TgeneALDH2chr12:112280573chr12:112237710ENST00000416293812262_267369471.0Nucleotide bindingNAD


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Fusion Gene Sequence for MAPKAPK5-ALDH2


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 MAPKAPK5-ALDH2


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 MAPKAPK5-ALDH2


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 MAPKAPK5-ALDH2


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