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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:MAPKAPK2-AXDND1 (FusionGDB2 ID:51604)

Fusion Gene Summary for MAPKAPK2-AXDND1

check button Fusion gene summary
Fusion gene informationFusion gene name: MAPKAPK2-AXDND1
Fusion gene ID: 51604
HgeneTgene
Gene symbol

MAPKAPK2

AXDND1

Gene ID

9261

126859

Gene nameMAPK activated protein kinase 2axonemal dynein light chain domain containing 1
SynonymsMAPKAP-K2|MK-2|MK2C1orf125
Cytomap

1q32.1

1q25.2

Type of geneprotein-codingprotein-coding
DescriptionMAP kinase-activated protein kinase 2MAPKAP kinase 2mitogen-activated protein kinase-activated protein kinase 2axonemal dynein light chain domain-containing protein 1
Modification date2020032720200313
UniProtAcc.

Q5T1B0

Ensembl transtripts involved in fusion geneENST00000294981, ENST00000367103, 
ENST00000479009, 
ENST00000457238, 
ENST00000461179, ENST00000367618, 
Fusion gene scores* DoF score8 X 6 X 5=2402 X 3 X 2=12
# samples 82
** MAII scorelog2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MAPKAPK2 [Title/Abstract] AND AXDND1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAPKAPK2(206858853)-AXDND1(179497461), # 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
HgeneMAPKAPK2

GO:0018105

peptidyl-serine phosphorylation

15850461

HgeneMAPKAPK2

GO:0032680

regulation of tumor necrosis factor production

15014438

HgeneMAPKAPK2

GO:0034097

response to cytokine

8774846

HgeneMAPKAPK2

GO:0070935

3'-UTR-mediated mRNA stabilization

14517288|15014438|20932473


check buttonFusion gene breakpoints across MAPKAPK2 (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 AXDND1 (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
ChimerDB4Non-CancerTCGA-G9-6499-11AMAPKAPK2chr1

206858853

+AXDND1chr1

179497461

+


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Fusion Gene ORF analysis for MAPKAPK2-AXDND1

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
5CDS-intronENST00000294981ENST00000457238MAPKAPK2chr1

206858853

+AXDND1chr1

179497461

+
5CDS-intronENST00000294981ENST00000461179MAPKAPK2chr1

206858853

+AXDND1chr1

179497461

+
5CDS-intronENST00000367103ENST00000457238MAPKAPK2chr1

206858853

+AXDND1chr1

179497461

+
5CDS-intronENST00000367103ENST00000461179MAPKAPK2chr1

206858853

+AXDND1chr1

179497461

+
In-frameENST00000294981ENST00000367618MAPKAPK2chr1

206858853

+AXDND1chr1

179497461

+
In-frameENST00000367103ENST00000367618MAPKAPK2chr1

206858853

+AXDND1chr1

179497461

+
intron-3CDSENST00000479009ENST00000367618MAPKAPK2chr1

206858853

+AXDND1chr1

179497461

+
intron-intronENST00000479009ENST00000457238MAPKAPK2chr1

206858853

+AXDND1chr1

179497461

+
intron-intronENST00000479009ENST00000461179MAPKAPK2chr1

206858853

+AXDND1chr1

179497461

+

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)
ENST00000294981MAPKAPK2chr1206858853+ENST00000367618AXDND1chr1179497461+1210565142993283
ENST00000367103MAPKAPK2chr1206858853+ENST00000367618AXDND1chr1179497461+111747249900283

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
ENST00000294981ENST00000367618MAPKAPK2chr1206858853+AXDND1chr1179497461+0.0022148520.9977851
ENST00000367103ENST00000367618MAPKAPK2chr1206858853+AXDND1chr1179497461+0.0023929840.997607

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Fusion Genomic Features for MAPKAPK2-AXDND1


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 MAPKAPK2-AXDND1


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/chr1:206858853/chr1:179497461)
- 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
.AXDND1

Q5T1B0

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
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000294981+11010_4093371.0Compositional biasNote=Pro-rich
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000294981+11035_4093371.0Compositional biasNote=Poly-Pro
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000367103+11010_4093401.0Compositional biasNote=Pro-rich
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000367103+11035_4093401.0Compositional biasNote=Poly-Pro
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000294981+11070_7893371.0Nucleotide bindingATP
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000367103+11070_7893401.0Nucleotide bindingATP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000294981+11064_32593371.0DomainProtein kinase
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000367103+11064_32593401.0DomainProtein kinase
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000294981+110356_36593371.0MotifNote=Nuclear export signal (NES)
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000294981+110371_37493371.0MotifNote=Bipartite nuclear localization signal 1
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000294981+110385_38993371.0MotifNote=Bipartite nuclear localization signal 2
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000367103+110356_36593401.0MotifNote=Nuclear export signal (NES)
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000367103+110371_37493401.0MotifNote=Bipartite nuclear localization signal 1
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000367103+110385_38993401.0MotifNote=Bipartite nuclear localization signal 2
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000294981+110139_14193371.0RegionNote=Staurosporine binding
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000294981+110328_36493371.0RegionAutoinhibitory helix
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000294981+110366_39093371.0RegionNote=p38 MAPK-binding site
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000367103+110139_14193401.0RegionNote=Staurosporine binding
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000367103+110328_36493401.0RegionAutoinhibitory helix
HgeneMAPKAPK2chr1:206858853chr1:179497461ENST00000367103+110366_39093401.0RegionNote=p38 MAPK-binding site
TgeneAXDND1chr1:206858853chr1:179497461ENST000003676182126317_4028701013.0Coiled coilOntology_term=ECO:0000255
TgeneAXDND1chr1:206858853chr1:179497461ENST000003676182126447_4868701013.0Coiled coilOntology_term=ECO:0000255
TgeneAXDND1chr1:206858853chr1:179497461ENST000003676182126572_5978701013.0Coiled coilOntology_term=ECO:0000255
TgeneAXDND1chr1:206858853chr1:179497461ENST000003676182126824_10028701013.0Compositional biasNote=Glu-rich


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Fusion Gene Sequence for MAPKAPK2-AXDND1


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.
>51604_51604_1_MAPKAPK2-AXDND1_MAPKAPK2_chr1_206858853_ENST00000294981_AXDND1_chr1_179497461_ENST00000367618_length(transcript)=1210nt_BP=565nt
GCGGCCGCTTCCCCCCGGCCGGGCCCCCGCCGCCCCGCGGTCCCCAGAGCGCCAGGCCCCCGGGGGGAGGGAGGGAGGGCGCCGGGCCGG
TGGGAGCCAGCGGCGCGCGGTGGGACCCACGGAGCCCCGCGACCCGCCGAGCCTGGAGCCGGGCCGGGTCGGGGAAGCCGGCTCCAGCCC
GGAGCGAACTTCGCAGCCCGTCGGGGGGCGGCGGGGAGGGGGCCCGGAGCCGGAGGAGGGGGCGGCCGCGGGCACCCCCGCCTGTGCCCC
GGCGTCCCCGGGCACCATGCTGTCCAACTCCCAGGGCCAGAGCCCGCCGGTGCCGTTCCCCGCCCCGGCCCCGCCGCCGCAGCCCCCCAC
CCCTGCCCTGCCGCACCCCCCGGCGCAGCCGCCGCCGCCGCCCCCGCAGCAGTTCCCGCAGTTCCACGTCAAGTCCGGCCTGCAGATCAA
GAAGAACGCCATCATCGATGACTACAAGGTCACCAGCCAGGTCCTGGGGCTGGGCATCAACGGCAAAGTTTTGCAGATCTTCAACAAGAG
GACCCAGGAGAAATTCGCCCTCAAACAACCTTCAACATCTACAGAGAAGGAAAAACTCATTCGATTCATTGGAGAAGATGAAAATGTTCA
TTCCAAACCTCTATTTGAAACAGATGTGTTGTCTTCCTGGAGAGAGTCAGCTAAGCAAGGTACATTGGCCCAAAAATATCTTGAAGCAAT
GGCTGTAATTGAACATATGCAGGAGAAGTTACTGGAGGTTGAAAATAGAGCCAGACAGGCAGAGGAGAAGTTTGAAGATGCATATGAGAA
ACTTCATCATACCCTTATAAAAAATAAAGATCTAGAGGAATTAGTCATGACATCAAGAAAGGAGTCTAAAGAAGAGAAAGAAAATCAAGA
TGAAAGAGAAGTAAAAGAAGAAGAAGAACAACAAGAAGAAGAAGAAGTCAGGTCAGCAGAAAATTCCTCAAAATCTCCAAAGAAAGGTCA
CTGAATCCAAGGCAACCTGTGGAAAGAAGAATTCAGATGTCAGTGGGAGCCTCCAGGTGGGAGGAGAGCATGCCTAAACCCTGGTGGCCA
TTGTTCTGTACTAAGGAACAACATTCCCTTTGAAAGGACATTATTTGCCTGTTGTATTTAACTTCACAGTGCCTTGCAAAGAGTTGTTTA

>51604_51604_1_MAPKAPK2-AXDND1_MAPKAPK2_chr1_206858853_ENST00000294981_AXDND1_chr1_179497461_ENST00000367618_length(amino acids)=283AA_BP=141
MEPGRVGEAGSSPERTSQPVGGRRGGGPEPEEGAAAGTPACAPASPGTMLSNSQGQSPPVPFPAPAPPPQPPTPALPHPPAQPPPPPPQQ
FPQFHVKSGLQIKKNAIIDDYKVTSQVLGLGINGKVLQIFNKRTQEKFALKQPSTSTEKEKLIRFIGEDENVHSKPLFETDVLSSWRESA
KQGTLAQKYLEAMAVIEHMQEKLLEVENRARQAEEKFEDAYEKLHHTLIKNKDLEELVMTSRKESKEEKENQDEREVKEEEEQQEEEEVR

--------------------------------------------------------------
>51604_51604_2_MAPKAPK2-AXDND1_MAPKAPK2_chr1_206858853_ENST00000367103_AXDND1_chr1_179497461_ENST00000367618_length(transcript)=1117nt_BP=472nt
GAGCCAGCGGCGCGCGGTGGGACCCACGGAGCCCCGCGACCCGCCGAGCCTGGAGCCGGGCCGGGTCGGGGAAGCCGGCTCCAGCCCGGA
GCGAACTTCGCAGCCCGTCGGGGGGCGGCGGGGAGGGGGCCCGGAGCCGGAGGAGGGGGCGGCCGCGGGCACCCCCGCCTGTGCCCCGGC
GTCCCCGGGCACCATGCTGTCCAACTCCCAGGGCCAGAGCCCGCCGGTGCCGTTCCCCGCCCCGGCCCCGCCGCCGCAGCCCCCCACCCC
TGCCCTGCCGCACCCCCCGGCGCAGCCGCCGCCGCCGCCCCCGCAGCAGTTCCCGCAGTTCCACGTCAAGTCCGGCCTGCAGATCAAGAA
GAACGCCATCATCGATGACTACAAGGTCACCAGCCAGGTCCTGGGGCTGGGCATCAACGGCAAAGTTTTGCAGATCTTCAACAAGAGGAC
CCAGGAGAAATTCGCCCTCAAACAACCTTCAACATCTACAGAGAAGGAAAAACTCATTCGATTCATTGGAGAAGATGAAAATGTTCATTC
CAAACCTCTATTTGAAACAGATGTGTTGTCTTCCTGGAGAGAGTCAGCTAAGCAAGGTACATTGGCCCAAAAATATCTTGAAGCAATGGC
TGTAATTGAACATATGCAGGAGAAGTTACTGGAGGTTGAAAATAGAGCCAGACAGGCAGAGGAGAAGTTTGAAGATGCATATGAGAAACT
TCATCATACCCTTATAAAAAATAAAGATCTAGAGGAATTAGTCATGACATCAAGAAAGGAGTCTAAAGAAGAGAAAGAAAATCAAGATGA
AAGAGAAGTAAAAGAAGAAGAAGAACAACAAGAAGAAGAAGAAGTCAGGTCAGCAGAAAATTCCTCAAAATCTCCAAAGAAAGGTCACTG
AATCCAAGGCAACCTGTGGAAAGAAGAATTCAGATGTCAGTGGGAGCCTCCAGGTGGGAGGAGAGCATGCCTAAACCCTGGTGGCCATTG
TTCTGTACTAAGGAACAACATTCCCTTTGAAAGGACATTATTTGCCTGTTGTATTTAACTTCACAGTGCCTTGCAAAGAGTTGTTTAACT

>51604_51604_2_MAPKAPK2-AXDND1_MAPKAPK2_chr1_206858853_ENST00000367103_AXDND1_chr1_179497461_ENST00000367618_length(amino acids)=283AA_BP=141
MEPGRVGEAGSSPERTSQPVGGRRGGGPEPEEGAAAGTPACAPASPGTMLSNSQGQSPPVPFPAPAPPPQPPTPALPHPPAQPPPPPPQQ
FPQFHVKSGLQIKKNAIIDDYKVTSQVLGLGINGKVLQIFNKRTQEKFALKQPSTSTEKEKLIRFIGEDENVHSKPLFETDVLSSWRESA
KQGTLAQKYLEAMAVIEHMQEKLLEVENRARQAEEKFEDAYEKLHHTLIKNKDLEELVMTSRKESKEEKENQDEREVKEEEEQQEEEEVR

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

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Fusion Gene PPI Analysis for MAPKAPK2-AXDND1


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 MAPKAPK2-AXDND1


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 MAPKAPK2-AXDND1


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