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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 21034

FusionGeneSummary for MAPKAPK5_ALDH2

check button Fusion gene summary
Fusion gene informationFusion gene name: MAPKAPK5_ALDH2
Fusion gene ID: 21034
HgeneTgene
Gene symbol

MAPKAPK5

ALDH2

Gene ID

8550

217

Gene namemitogen-activated protein kinase-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 5MAPK-activated protein kinase 5MAPKAP kinase 5MAPKAPK-5p38-regulated/activated protein kinasealdehyde dehydrogenase, mitochondrialALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase 2 family (mitochondrial)liver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2
Modification date2018052320180527
UniProtAcc

Q8IW41

P05091

Ensembl transtripts involved in fusion geneENST00000550735, ENST00000551404, 
ENST00000547305, ENST00000546394, 
ENST00000416293, ENST00000261733, 
Fusion gene scores* DoF score8 X 8 X 7=4483 X 5 X 4=60
# samples 125
** MAII scorelog2(12/448*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVACCTCGA-OR-A5J7-01AMAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
TCGARVLUADTCGA-86-8054-01AMAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
TCGALDSTADTCGA-BR-A452-01AMAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shitENST00000550735ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
Frame-shitENST00000550735ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
Frame-shitENST00000551404ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
Frame-shitENST00000551404ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
Frame-shitENST00000547305ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
Frame-shitENST00000547305ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
3UTR-3CDSENST00000546394ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
3UTR-3CDSENST00000546394ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112241663

+
In-frameENST00000550735ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
In-frameENST00000550735ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
In-frameENST00000551404ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
In-frameENST00000551404ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
In-frameENST00000547305ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
In-frameENST00000547305ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
3UTR-3CDSENST00000546394ENST00000416293MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
3UTR-3CDSENST00000546394ENST00000261733MAPKAPK5chr12

112280573

+ALDH2chr12

112237710

+
In-frameENST00000550735ENST00000416293MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
In-frameENST00000550735ENST00000261733MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
In-frameENST00000551404ENST00000416293MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
In-frameENST00000551404ENST00000261733MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
intron-3CDSENST00000547305ENST00000416293MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
intron-3CDSENST00000547305ENST00000261733MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
intron-3CDSENST00000546394ENST00000416293MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+
intron-3CDSENST00000546394ENST00000261733MAPKAPK5chr12

112318331

+ALDH2chr12

112219722

+

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FusionProtFeatures for MAPKAPK5_ALDH2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAPKAPK5

Q8IW41

ALDH2

P05091

Tumor suppressor serine/threonine-protein kinaseinvolved 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 ofFOXO3: phosphorylation of FOXO3 leads to promote nuclearlocalization of FOXO3, enabling expression of miR-34b and miR-34c,2 post-transcriptional regulators of MYC that bind to the 3'UTR ofMYC transcript and prevent MYC translation. Acts as a negativeregulator of mTORC1 signaling by mediating phosphorylation andinhibition of RHEB. Part of the atypical MAPK signaling via itsinteraction with ERK3/MAPK6 or ERK4/MAPK4: the precise role of thecomplex formed with ERK3/MAPK6 or ERK4/MAPK4 is still unclear, butthe complex follows a complex set of phosphorylation events: uponinteraction with atypical MAPK (ERK3/MAPK6 or ERK4/MAPK4),ERK3/MAPK6 (or ERK4/MAPK4) is phosphorylated and then mediatesphosphorylation and activation of MAPKAPK5, which in turnphosphorylates ERK3/MAPK6 (or ERK4/MAPK4). Mediatesphosphorylation of HSP27/HSPB1 in response to PKA/PRKACAstimulation, 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_36220472Nucleotide bindingATP
HgeneMAPKAPK5chr12:112318331chr12:112219722ENST00000551404+81428_36220474Nucleotide bindingATP
TgeneALDH2chr12:112318331chr12:112219722ENST00000261733+013262_26738518Nucleotide bindingNAD
TgeneALDH2chr12:112318331chr12:112219722ENST00000416293+012262_26738471Nucleotide bindingNAD

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMAPKAPK5chr12:112280573chr12:112237710ENST00000550735+114409_44012472Coiled coilOntology_term=ECO:0000255
HgeneMAPKAPK5chr12:112280573chr12:112237710ENST00000551404+114409_44012474Coiled coilOntology_term=ECO:0000255
HgeneMAPKAPK5chr12:112318331chr12:112219722ENST00000550735+814409_440220472Coiled coilOntology_term=ECO:0000255
HgeneMAPKAPK5chr12:112318331chr12:112219722ENST00000551404+814409_440220474Coiled coilOntology_term=ECO:0000255
HgeneMAPKAPK5chr12:112280573chr12:112237710ENST00000550735+11422_30412472DomainProtein kinase
HgeneMAPKAPK5chr12:112280573chr12:112237710ENST00000551404+11422_30412474DomainProtein kinase
HgeneMAPKAPK5chr12:112318331chr12:112219722ENST00000550735+81422_304220472DomainProtein kinase
HgeneMAPKAPK5chr12:112318331chr12:112219722ENST00000551404+81422_304220474DomainProtein kinase
HgeneMAPKAPK5chr12:112280573chr12:112237710ENST00000550735+11428_3612472Nucleotide bindingATP
HgeneMAPKAPK5chr12:112280573chr12:112237710ENST00000551404+11428_3612474Nucleotide bindingATP
TgeneALDH2chr12:112280573chr12:112237710ENST00000261733+913262_267416518Nucleotide bindingNAD
TgeneALDH2chr12:112280573chr12:112237710ENST00000416293+812262_267369471Nucleotide bindingNAD


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FusionGeneSequence for MAPKAPK5_ALDH2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
MAPKAPK5HSPB1, HSPB2, MAPK6, MAPK14, RPL13, ZNF282, TAB1, MAPK4, MAPKAPK2, LSR, CDCA8, ZNF576, SRPK2, SRPK1, TP53, MAPK9, MAPK1, EIF4EBP1, MAPKAPK5ALDH2UNC119, SLC35F6, IGSF21, CRMP1, C14orf1, EIF6, HSPE1, HSPD1, UBA5, ICT1, CUL3, APP, ALDH1A1, RPL13A, SERPINB5, IGKC, ALDH1A2, ALDH6A1, FGB, SERPINA1, TF, FGG, IGHG1, IGHG3, IGHG4, APOA1, FGA, CALML5, BTRC, LDHA, LDHAL6A, LDHB, RPE, SOD2, ESD, PDCD6IP, PGM1, UQCRC2, NTRK1, HSPB2, IGHA1, RPL11, ARID1A, XRCC3, ATAD5, APC, PHB2, RAD23B, SIRT3


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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RelatedDrugs for MAPKAPK5_ALDH2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneALDH2P05091DB00822DisulfiramAldehyde dehydrogenase, mitochondrialsmall moleculeapproved

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RelatedDiseases for MAPKAPK5_ALDH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneALDH2C0001973Alcoholic Intoxication, Chronic7CTD_human;PSYGENET
TgeneALDH2C0001969Alcoholic Intoxication5PSYGENET
TgeneALDH2C0085762Alcohol abuse5PSYGENET
TgeneALDH2C0393756Hangover from alcohol4PSYGENET
TgeneALDH2C0236664Alcohol-Related Disorders3PSYGENET
TgeneALDH2C0004096Asthma2CTD_human
TgeneALDH2C0005586Bipolar Disorder2PSYGENET
TgeneALDH2C0279626Squamous cell carcinoma of esophagus2CTD_human
TgeneALDH2C0009404Colorectal Neoplasms1CTD_human
TgeneALDH2C0014859Esophageal Neoplasms1CTD_human
TgeneALDH2C0016382Flushing1CTD_human
TgeneALDH2C0021364Male infertility1CTD_human
TgeneALDH2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneALDH2C0028796Dermatitis, Occupational1CTD_human
TgeneALDH2C0032927Precancerous Conditions1CTD_human
TgeneALDH2C0042373Vascular Diseases1CTD_human
TgeneALDH2C0242973Ventricular Dysfunction1CTD_human
TgeneALDH2C0342257Complications of Diabetes Mellitus1CTD_human
TgeneALDH2C0349464Wernicke-Korsakoff Syndrome1PSYGENET
TgeneALDH2C0520459Necrotizing Enterocolitis1CTD_human
TgeneALDH2C2674838ALCOHOL SENSITIVITY, ACUTE1CTD_human