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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-CCDC38 (FusionGDB2 ID:51622)

Fusion Gene Summary for MAPKAPK5-CCDC38

check button Fusion gene summary
Fusion gene informationFusion gene name: MAPKAPK5-CCDC38
Fusion gene ID: 51622
HgeneTgene
Gene symbol

MAPKAPK5

CCDC38

Gene ID

8550

120935

Gene nameMAPK activated protein kinase 5coiled-coil domain containing 38
SynonymsMAPKAP-K5|MK-5|MK5|PRAK-
Cytomap

12q24.12-q24.13

12q23.1

Type of geneprotein-codingprotein-coding
DescriptionMAP kinase-activated protein kinase 5MAPKAP kinase 5MAPKAPK-5mitogen-activated protein kinase-activated protein kinase 5p38-regulated/activated protein kinasecoiled-coil domain-containing protein 38
Modification date2020031320200313
UniProtAcc

Q8IW41

.
Ensembl transtripts involved in fusion geneENST00000546394, ENST00000547305, 
ENST00000550735, ENST00000551404, 
ENST00000344280, ENST00000546386, 
ENST00000549752, 
Fusion gene scores* DoF score13 X 12 X 10=15602 X 2 X 2=8
# samples 202
** MAII scorelog2(20/1560*10)=-2.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: MAPKAPK5 [Title/Abstract] AND CCDC38 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAPKAPK5(112280573)-CCDC38(96266238), # samples:2
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
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 CCDC38 (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
ChimerDB4SARCTCGA-3B-A9HO-01AMAPKAPK5chr12

112280573

-CCDC38chr12

96266238

-
ChimerDB4SARCTCGA-3B-A9HO-01AMAPKAPK5chr12

112280573

+CCDC38chr12

96266238

-


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Fusion Gene ORF analysis for MAPKAPK5-CCDC38

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-3CDSENST00000546394ENST00000344280MAPKAPK5chr12

112280573

+CCDC38chr12

96266238

-
3UTR-intronENST00000546394ENST00000546386MAPKAPK5chr12

112280573

+CCDC38chr12

96266238

-
3UTR-intronENST00000546394ENST00000549752MAPKAPK5chr12

112280573

+CCDC38chr12

96266238

-
5CDS-intronENST00000547305ENST00000546386MAPKAPK5chr12

112280573

+CCDC38chr12

96266238

-
5CDS-intronENST00000547305ENST00000549752MAPKAPK5chr12

112280573

+CCDC38chr12

96266238

-
5CDS-intronENST00000550735ENST00000546386MAPKAPK5chr12

112280573

+CCDC38chr12

96266238

-
5CDS-intronENST00000550735ENST00000549752MAPKAPK5chr12

112280573

+CCDC38chr12

96266238

-
5CDS-intronENST00000551404ENST00000546386MAPKAPK5chr12

112280573

+CCDC38chr12

96266238

-
5CDS-intronENST00000551404ENST00000549752MAPKAPK5chr12

112280573

+CCDC38chr12

96266238

-
In-frameENST00000547305ENST00000344280MAPKAPK5chr12

112280573

+CCDC38chr12

96266238

-
In-frameENST00000550735ENST00000344280MAPKAPK5chr12

112280573

+CCDC38chr12

96266238

-
In-frameENST00000551404ENST00000344280MAPKAPK5chr12

112280573

+CCDC38chr12

96266238

-

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)
ENST00000550735MAPKAPK5chr12112280573+ENST00000344280CCDC38chr1296266238-12337923751205276
ENST00000551404MAPKAPK5chr12112280573+ENST00000344280CCDC38chr1296266238-58514433557174
ENST00000547305MAPKAPK5chr12112280573+ENST00000344280CCDC38chr1296266238-73629528708226

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
ENST00000550735ENST00000344280MAPKAPK5chr12112280573+CCDC38chr1296266238-0.0053810930.9946189
ENST00000551404ENST00000344280MAPKAPK5chr12112280573+CCDC38chr1296266238-0.0041867170.9958133
ENST00000547305ENST00000344280MAPKAPK5chr12112280573+CCDC38chr1296266238-0.0025589340.99744105

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Fusion Genomic Features for MAPKAPK5-CCDC38


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.

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Fusion Protein Features for MAPKAPK5-CCDC38


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/chr12:96266238)
- 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

.
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}.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}.

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
TgeneCCDC38chr12:112280573chr12:96266238ENST000003442801216497_522426564.0Coiled coilOntology_term=ECO:0000255

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMAPKAPK5chr12:112280573chr12:96266238ENST00000550735+114409_44012472.0Coiled coilOntology_term=ECO:0000255
HgeneMAPKAPK5chr12:112280573chr12:96266238ENST00000551404+114409_44012474.0Coiled coilOntology_term=ECO:0000255
HgeneMAPKAPK5chr12:112280573chr12:96266238ENST00000550735+11422_30412472.0DomainProtein kinase
HgeneMAPKAPK5chr12:112280573chr12:96266238ENST00000551404+11422_30412474.0DomainProtein kinase
HgeneMAPKAPK5chr12:112280573chr12:96266238ENST00000550735+11428_3612472.0Nucleotide bindingATP
HgeneMAPKAPK5chr12:112280573chr12:96266238ENST00000551404+11428_3612474.0Nucleotide bindingATP
TgeneCCDC38chr12:112280573chr12:96266238ENST000003442801216129_212426564.0Coiled coilOntology_term=ECO:0000255
TgeneCCDC38chr12:112280573chr12:96266238ENST000003442801216384_415426564.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for MAPKAPK5-CCDC38


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.
>51622_51622_1_MAPKAPK5-CCDC38_MAPKAPK5_chr12_112280573_ENST00000547305_CCDC38_chr12_96266238_ENST00000344280_length(transcript)=736nt_BP=295nt
GCGGCCGCGTGGGGCCCAGCACAAAGACCTGTCCCCAGGGGCCGCCGCCTCCGCCGCTGCTGCTGCCGCCAGCCTAGAGCCGCCCGCCGA
AGCAGAGCCGGCGCCGGGGTCCTCATCCCCACCGGTCCCGAGGGGCGGCTGCTGCCCGTCGCCACGAGGCCCAGGGGCCCGAGTGCCGAG
CCCTTTGCTCCCTCGGCCGCGCGGGGACAGGGCTGCTGAGCAGCCTCCGCCTCTCCCGGCTGTGGGGGCCCCACTGAGTATGTCGGAGGA
GAGCGACATGGACAAAGCCATCAAGGAAATACTGATAGACTCACTTAGTAAAAAGATTACTCAAGTATACAAAGTCTGCATTGGAGATGC
TGAGGATGACGGCCTCAACCCAATTCAAAAGCTGGTAAAAGTAGAATCTCGCCTGGTAGAACTGTGTGACCTCATCGAATCCATTCCCAA
AGAAAATGTGGAGGCAATTGAGAGGATGAAACAGAAAGAATGGCGGCAAAAGTTTCGTGATGAGAAAATGAAAGAAAAACAAAGACACCA
ACAGGAAAGGCTAAAAGCTGCTCTGGAAAAAGCAGTAGCACAACCAAAGAAAAAGTTGGGAAGACGACTTGTCTTTCATTCAAAACCTCC
ATCTGGTAACAAACAGCAGCTACCTTTAGTCAATGAAACAAAAACAAAATCACAAGAGGAAGAATATTTTTTTACTTGAATAAAAGCAGT

>51622_51622_1_MAPKAPK5-CCDC38_MAPKAPK5_chr12_112280573_ENST00000547305_CCDC38_chr12_96266238_ENST00000344280_length(amino acids)=226AA_BP=89
MSPGAAASAAAAAASLEPPAEAEPAPGSSSPPVPRGGCCPSPRGPGARVPSPLLPRPRGDRAAEQPPPLPAVGAPLSMSEESDMDKAIKE
ILIDSLSKKITQVYKVCIGDAEDDGLNPIQKLVKVESRLVELCDLIESIPKENVEAIERMKQKEWRQKFRDEKMKEKQRHQQERLKAALE

--------------------------------------------------------------
>51622_51622_2_MAPKAPK5-CCDC38_MAPKAPK5_chr12_112280573_ENST00000550735_CCDC38_chr12_96266238_ENST00000344280_length(transcript)=1233nt_BP=792nt
ATTAGCGCAGCGCCATCGCCGCGGAAGGCCCAGGGGCCTGTCCTGTATGCGGCGTGTCTTAGGGAGGCCCAGGCGGACGCCTGCAAGTCG
GGTGCGCGGTTCGGGGGCGGCTCGGAAACCCCAGCGGAAGGCAGCAAGGGGCGCGTGGGGCCGTGGAGTCACGAAGCTGGGCGGCAGGAG
GGGCGGCCTGGAGCTCCCGCGGGGCACAGCGCGTGCGTGAGGGCGGCCGGCGGGGCTGCCCGGCGCGGGTGTCCCGGCGATGTGTGGCGC
TGAGGCGGCGGCGGGAGCAGCGGCGCCGAGCTCTGCTTCGGCTTCGGCTTCGGCTTCGCGGCGGTGCAGGCGGCGGAGGCGGAGGCGCAG
GCTCTTCTTTAGGACCTGGCGAGCCCAGGTCTAAGCGGCGGCCCCGCGAGGCCCTTGCACGGCGCCCCGGGTCGAGGCCCTCCCCGCCTC
GCCCTACCCCAGGAGCCTGCCTCCCCAGCTGGGGATGAGGCTAGGAGGCGGCCGCGTGGGGCCCAGCACAAAGACCTGTCCCCAGGGGCC
GCCGCCTCCGCCGCTGCTGCTGCCGCCAGCCTAGAGCCGCCCGCCGAAGCAGAGCCGGCGCCGGGGTCCTCATCCCCACCGGTCCCGAGG
GGCGGCTGCTGCCCGTCGCCACGAGGCCCAGGGGCCCGAGTGCCGAGCCCTTTGCTCCCTCGGCCGCGCGGGGACAGGGCTGCTGAGCAG
CCTCCGCCTCTCCCGGCTGTGGGGGCCCCACTGAGTATGTCGGAGGAGAGCGACATGGACAAAGCCATCAAGGAAATACTGATAGACTCA
CTTAGTAAAAAGATTACTCAAGTATACAAAGTCTGCATTGGAGATGCTGAGGATGACGGCCTCAACCCAATTCAAAAGCTGGTAAAAGTA
GAATCTCGCCTGGTAGAACTGTGTGACCTCATCGAATCCATTCCCAAAGAAAATGTGGAGGCAATTGAGAGGATGAAACAGAAAGAATGG
CGGCAAAAGTTTCGTGATGAGAAAATGAAAGAAAAACAAAGACACCAACAGGAAAGGCTAAAAGCTGCTCTGGAAAAAGCAGTAGCACAA
CCAAAGAAAAAGTTGGGAAGACGACTTGTCTTTCATTCAAAACCTCCATCTGGTAACAAACAGCAGCTACCTTTAGTCAATGAAACAAAA

>51622_51622_2_MAPKAPK5-CCDC38_MAPKAPK5_chr12_112280573_ENST00000550735_CCDC38_chr12_96266238_ENST00000344280_length(amino acids)=276AA_BP=139
MASPGLSGGPARPLHGAPGRGPPRLALPQEPASPAGDEARRRPRGAQHKDLSPGAAASAAAAAASLEPPAEAEPAPGSSSPPVPRGGCCP
SPRGPGARVPSPLLPRPRGDRAAEQPPPLPAVGAPLSMSEESDMDKAIKEILIDSLSKKITQVYKVCIGDAEDDGLNPIQKLVKVESRLV
ELCDLIESIPKENVEAIERMKQKEWRQKFRDEKMKEKQRHQQERLKAALEKAVAQPKKKLGRRLVFHSKPPSGNKQQLPLVNETKTKSQE

--------------------------------------------------------------
>51622_51622_3_MAPKAPK5-CCDC38_MAPKAPK5_chr12_112280573_ENST00000551404_CCDC38_chr12_96266238_ENST00000344280_length(transcript)=585nt_BP=144nt
CCACGAGGCCCAGGGGCCCGAGTGCCGAGCCCTTTGCTCCCTCGGCCGCGCGGGGACAGGGCTGCTGAGCAGCCTCCGCCTCTCCCGGCT
GTGGGGGCCCCACTGAGTATGTCGGAGGAGAGCGACATGGACAAAGCCATCAAGGAAATACTGATAGACTCACTTAGTAAAAAGATTACT
CAAGTATACAAAGTCTGCATTGGAGATGCTGAGGATGACGGCCTCAACCCAATTCAAAAGCTGGTAAAAGTAGAATCTCGCCTGGTAGAA
CTGTGTGACCTCATCGAATCCATTCCCAAAGAAAATGTGGAGGCAATTGAGAGGATGAAACAGAAAGAATGGCGGCAAAAGTTTCGTGAT
GAGAAAATGAAAGAAAAACAAAGACACCAACAGGAAAGGCTAAAAGCTGCTCTGGAAAAAGCAGTAGCACAACCAAAGAAAAAGTTGGGA
AGACGACTTGTCTTTCATTCAAAACCTCCATCTGGTAACAAACAGCAGCTACCTTTAGTCAATGAAACAAAAACAAAATCACAAGAGGAA

>51622_51622_3_MAPKAPK5-CCDC38_MAPKAPK5_chr12_112280573_ENST00000551404_CCDC38_chr12_96266238_ENST00000344280_length(amino acids)=174AA_BP=37
MLPRPRGDRAAEQPPPLPAVGAPLSMSEESDMDKAIKEILIDSLSKKITQVYKVCIGDAEDDGLNPIQKLVKVESRLVELCDLIESIPKE

--------------------------------------------------------------

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Fusion Gene PPI Analysis for MAPKAPK5-CCDC38


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-CCDC38


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-CCDC38


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