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Fusion gene ID: 21035 |
FusionGeneSummary for MAPKAPK5_CCDC38 |
Fusion gene summary |
Fusion gene information | Fusion gene name: MAPKAPK5_CCDC38 | Fusion gene ID: 21035 | Hgene | Tgene | Gene symbol | MAPKAPK5 | CCDC38 | Gene ID | 8550 | 120935 |
Gene name | mitogen-activated protein kinase-activated protein kinase 5 | coiled-coil domain containing 38 | |
Synonyms | MAPKAP-K5|MK-5|MK5|PRAK | - | |
Cytomap | 12q24.12-q24.13 | 12q23.1 | |
Type of gene | protein-coding | protein-coding | |
Description | MAP kinase-activated protein kinase 5MAPK-activated protein kinase 5MAPKAP kinase 5MAPKAPK-5p38-regulated/activated protein kinase | coiled-coil domain-containing protein 38 | |
Modification date | 20180523 | 20180329 | |
UniProtAcc | Q8IW41 | Q502W7 | |
Ensembl transtripts involved in fusion gene | ENST00000550735, ENST00000551404, ENST00000547305, ENST00000546394, | ENST00000344280, ENST00000549752, ENST00000546386, | |
Fusion gene scores | * DoF score | 8 X 8 X 7=448 | 2 X 2 X 2=8 |
# samples | 12 | 2 | |
** MAII score | log2(12/448*10)=-1.90046432644909 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] | ||
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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | MAPKAPK5 | GO:0006417 | regulation of translation | 21329882 |
Hgene | MAPKAPK5 | GO:0007265 | Ras protein signal transduction | 17254968 |
Hgene | MAPKAPK5 | GO:0046777 | protein autophosphorylation | 21329882 |
Hgene | MAPKAPK5 | GO:0090400 | stress-induced premature senescence | 17254968 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | SARC | TCGA-3B-A9HO-01A | MAPKAPK5 | chr12 | 112280573 | + | CCDC38 | chr12 | 96266238 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000550735 | ENST00000344280 | MAPKAPK5 | chr12 | 112280573 | + | CCDC38 | chr12 | 96266238 | - |
5CDS-intron | ENST00000550735 | ENST00000549752 | MAPKAPK5 | chr12 | 112280573 | + | CCDC38 | chr12 | 96266238 | - |
5CDS-intron | ENST00000550735 | ENST00000546386 | MAPKAPK5 | chr12 | 112280573 | + | CCDC38 | chr12 | 96266238 | - |
In-frame | ENST00000551404 | ENST00000344280 | MAPKAPK5 | chr12 | 112280573 | + | CCDC38 | chr12 | 96266238 | - |
5CDS-intron | ENST00000551404 | ENST00000549752 | MAPKAPK5 | chr12 | 112280573 | + | CCDC38 | chr12 | 96266238 | - |
5CDS-intron | ENST00000551404 | ENST00000546386 | MAPKAPK5 | chr12 | 112280573 | + | CCDC38 | chr12 | 96266238 | - |
In-frame | ENST00000547305 | ENST00000344280 | MAPKAPK5 | chr12 | 112280573 | + | CCDC38 | chr12 | 96266238 | - |
5CDS-intron | ENST00000547305 | ENST00000549752 | MAPKAPK5 | chr12 | 112280573 | + | CCDC38 | chr12 | 96266238 | - |
5CDS-intron | ENST00000547305 | ENST00000546386 | MAPKAPK5 | chr12 | 112280573 | + | CCDC38 | chr12 | 96266238 | - |
3UTR-3CDS | ENST00000546394 | ENST00000344280 | MAPKAPK5 | chr12 | 112280573 | + | CCDC38 | chr12 | 96266238 | - |
3UTR-intron | ENST00000546394 | ENST00000549752 | MAPKAPK5 | chr12 | 112280573 | + | CCDC38 | chr12 | 96266238 | - |
3UTR-intron | ENST00000546394 | ENST00000546386 | MAPKAPK5 | chr12 | 112280573 | + | CCDC38 | chr12 | 96266238 | - |
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FusionProtFeatures for MAPKAPK5_CCDC38 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MAPKAPK5 | CCDC38 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | >CCDC38 | chr12:112280573 | chr12:96266238 | ENST00000344280 | - | 12 | 16 | 497_522 | 426 | 564 | Coiled coil | Ontology_term=ECO:0000255 |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >MAPKAPK5 | chr12:112280573 | chr12:96266238 | ENST00000550735 | + | 1 | 14 | 409_440 | 12 | 472 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >MAPKAPK5 | chr12:112280573 | chr12:96266238 | ENST00000551404 | + | 1 | 14 | 409_440 | 12 | 474 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >MAPKAPK5 | chr12:112280573 | chr12:96266238 | ENST00000550735 | + | 1 | 14 | 22_304 | 12 | 472 | Domain | Protein kinase |
Hgene | >MAPKAPK5 | chr12:112280573 | chr12:96266238 | ENST00000551404 | + | 1 | 14 | 22_304 | 12 | 474 | Domain | Protein kinase |
Hgene | >MAPKAPK5 | chr12:112280573 | chr12:96266238 | ENST00000550735 | + | 1 | 14 | 28_36 | 12 | 472 | Nucleotide binding | ATP |
Hgene | >MAPKAPK5 | chr12:112280573 | chr12:96266238 | ENST00000551404 | + | 1 | 14 | 28_36 | 12 | 474 | Nucleotide binding | ATP |
Tgene | CCDC38 | chr12:112280573 | chr12:96266238 | ENST00000344280 | - | 12 | 16 | 129_212 | 426 | 564 | Coiled coil | Ontology_term=ECO:0000255 |
Tgene | CCDC38 | chr12:112280573 | chr12:96266238 | ENST00000344280 | - | 12 | 16 | 384_415 | 426 | 564 | Coiled coil | Ontology_term=ECO:0000255 |
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FusionGeneSequence for MAPKAPK5_CCDC38 |
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. |
>In-frame_MAPKAPK5_ENST00000550735_chr12_112280573_+_CCDC38_ENST00000344280_chr12_96266238_-_150aa MSEESDMDKAIKEILIDSLSKKITQVYKVCIGDAEDDGLNPIQKLVKVESRLVELCDLIESIPKENVEAIERMKQKEWRQKFRDEKMKEK >In-frame_MAPKAPK5_ENST00000551404_chr12_112280573_+_CCDC38_ENST00000344280_chr12_96266238_-_150aa MSEESDMDKAIKEILIDSLSKKITQVYKVCIGDAEDDGLNPIQKLVKVESRLVELCDLIESIPKENVEAIERMKQKEWRQKFRDEKMKEK >In-frame_MAPKAPK5_ENST00000547305_chr12_112280573_+_CCDC38_ENST00000344280_chr12_96266238_-_150aa MSEESDMDKAIKEILIDSLSKKITQVYKVCIGDAEDDGLNPIQKLVKVESRLVELCDLIESIPKENVEAIERMKQKEWRQKFRDEKMKEK |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_MAPKAPK5_ENST00000550735_chr12_112280573_+_CCDC38_ENST00000344280_chr12_96266238_-_450nt ATGTCGGAGGAGAGCGACATGGACAAAGCCATCAAGGAAATACTGATAGACTCACTTAGTAAAAAGATTACTCAAGTATACAAAGTCTGC ATTGGAGATGCTGAGGATGACGGCCTCAACCCAATTCAAAAGCTGGTAAAAGTAGAATCTCGCCTGGTAGAACTGTGTGACCTCATCGAA TCCATTCCCAAAGAAAATGTGGAGGCAATTGAGAGGATGAAACAGAAAGAATGGCGGCAAAAGTTTCGTGATGAGAAAATGAAAGAAAAA CAAAGACACCAACAGGAAAGGCTAAAAGCTGCTCTGGAAAAAGCAGTAGCACAACCAAAGAAAAAGTTGGGAAGACGACTTGTCTTTCAT TCAAAACCTCCATCTGGTAACAAACAGCAGCTACCTTTAGTCAATGAAACAAAAACAAAATCACAAGAGGAAGAATATTTTTTTACTTGA >In-frame_MAPKAPK5_ENST00000551404_chr12_112280573_+_CCDC38_ENST00000344280_chr12_96266238_-_450nt ATGTCGGAGGAGAGCGACATGGACAAAGCCATCAAGGAAATACTGATAGACTCACTTAGTAAAAAGATTACTCAAGTATACAAAGTCTGC ATTGGAGATGCTGAGGATGACGGCCTCAACCCAATTCAAAAGCTGGTAAAAGTAGAATCTCGCCTGGTAGAACTGTGTGACCTCATCGAA TCCATTCCCAAAGAAAATGTGGAGGCAATTGAGAGGATGAAACAGAAAGAATGGCGGCAAAAGTTTCGTGATGAGAAAATGAAAGAAAAA CAAAGACACCAACAGGAAAGGCTAAAAGCTGCTCTGGAAAAAGCAGTAGCACAACCAAAGAAAAAGTTGGGAAGACGACTTGTCTTTCAT TCAAAACCTCCATCTGGTAACAAACAGCAGCTACCTTTAGTCAATGAAACAAAAACAAAATCACAAGAGGAAGAATATTTTTTTACTTGA >In-frame_MAPKAPK5_ENST00000547305_chr12_112280573_+_CCDC38_ENST00000344280_chr12_96266238_-_450nt ATGTCGGAGGAGAGCGACATGGACAAAGCCATCAAGGAAATACTGATAGACTCACTTAGTAAAAAGATTACTCAAGTATACAAAGTCTGC ATTGGAGATGCTGAGGATGACGGCCTCAACCCAATTCAAAAGCTGGTAAAAGTAGAATCTCGCCTGGTAGAACTGTGTGACCTCATCGAA TCCATTCCCAAAGAAAATGTGGAGGCAATTGAGAGGATGAAACAGAAAGAATGGCGGCAAAAGTTTCGTGATGAGAAAATGAAAGAAAAA CAAAGACACCAACAGGAAAGGCTAAAAGCTGCTCTGGAAAAAGCAGTAGCACAACCAAAGAAAAAGTTGGGAAGACGACTTGTCTTTCAT TCAAAACCTCCATCTGGTAACAAACAGCAGCTACCTTTAGTCAATGAAACAAAAACAAAATCACAAGAGGAAGAATATTTTTTTACTTGA |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_MAPKAPK5_ENST00000550735_chr12_112280573_+_CCDC38_ENST00000344280_chr12_96266238_-_1233nt ATTAGCGCAGCGCCATCGCCGCGGAAGGCCCAGGGGCCTGTCCTGTATGCGGCGTGTCTTAGGGAGGCCCAGGCGGACGCCTGCAAGTCG GGTGCGCGGTTCGGGGGCGGCTCGGAAACCCCAGCGGAAGGCAGCAAGGGGCGCGTGGGGCCGTGGAGTCACGAAGCTGGGCGGCAGGAG GGGCGGCCTGGAGCTCCCGCGGGGCACAGCGCGTGCGTGAGGGCGGCCGGCGGGGCTGCCCGGCGCGGGTGTCCCGGCGATGTGTGGCGC TGAGGCGGCGGCGGGAGCAGCGGCGCCGAGCTCTGCTTCGGCTTCGGCTTCGGCTTCGCGGCGGTGCAGGCGGCGGAGGCGGAGGCGCAG GCTCTTCTTTAGGACCTGGCGAGCCCAGGTCTAAGCGGCGGCCCCGCGAGGCCCTTGCACGGCGCCCCGGGTCGAGGCCCTCCCCGCCTC GCCCTACCCCAGGAGCCTGCCTCCCCAGCTGGGGATGAGGCTAGGAGGCGGCCGCGTGGGGCCCAGCACAAAGACCTGTCCCCAGGGGCC GCCGCCTCCGCCGCTGCTGCTGCCGCCAGCCTAGAGCCGCCCGCCGAAGCAGAGCCGGCGCCGGGGTCCTCATCCCCACCGGTCCCGAGG GGCGGCTGCTGCCCGTCGCCACGAGGCCCAGGGGCCCGAGTGCCGAGCCCTTTGCTCCCTCGGCCGCGCGGGGACAGGGCTGCTGAGCAG CCTCCGCCTCTCCCGGCTGTGGGGGCCCCACTGAGTATGTCGGAGGAGAGCGACATGGACAAAGCCATCAAGGAAATACTGATAGACTCA CTTAGTAAAAAGATTACTCAAGTATACAAAGTCTGCATTGGAGATGCTGAGGATGACGGCCTCAACCCAATTCAAAAGCTGGTAAAAGTA GAATCTCGCCTGGTAGAACTGTGTGACCTCATCGAATCCATTCCCAAAGAAAATGTGGAGGCAATTGAGAGGATGAAACAGAAAGAATGG CGGCAAAAGTTTCGTGATGAGAAAATGAAAGAAAAACAAAGACACCAACAGGAAAGGCTAAAAGCTGCTCTGGAAAAAGCAGTAGCACAA CCAAAGAAAAAGTTGGGAAGACGACTTGTCTTTCATTCAAAACCTCCATCTGGTAACAAACAGCAGCTACCTTTAGTCAATGAAACAAAA >In-frame_MAPKAPK5_ENST00000551404_chr12_112280573_+_CCDC38_ENST00000344280_chr12_96266238_-_585nt CCACGAGGCCCAGGGGCCCGAGTGCCGAGCCCTTTGCTCCCTCGGCCGCGCGGGGACAGGGCTGCTGAGCAGCCTCCGCCTCTCCCGGCT GTGGGGGCCCCACTGAGTATGTCGGAGGAGAGCGACATGGACAAAGCCATCAAGGAAATACTGATAGACTCACTTAGTAAAAAGATTACT CAAGTATACAAAGTCTGCATTGGAGATGCTGAGGATGACGGCCTCAACCCAATTCAAAAGCTGGTAAAAGTAGAATCTCGCCTGGTAGAA CTGTGTGACCTCATCGAATCCATTCCCAAAGAAAATGTGGAGGCAATTGAGAGGATGAAACAGAAAGAATGGCGGCAAAAGTTTCGTGAT GAGAAAATGAAAGAAAAACAAAGACACCAACAGGAAAGGCTAAAAGCTGCTCTGGAAAAAGCAGTAGCACAACCAAAGAAAAAGTTGGGA AGACGACTTGTCTTTCATTCAAAACCTCCATCTGGTAACAAACAGCAGCTACCTTTAGTCAATGAAACAAAAACAAAATCACAAGAGGAA >In-frame_MAPKAPK5_ENST00000547305_chr12_112280573_+_CCDC38_ENST00000344280_chr12_96266238_-_736nt GCGGCCGCGTGGGGCCCAGCACAAAGACCTGTCCCCAGGGGCCGCCGCCTCCGCCGCTGCTGCTGCCGCCAGCCTAGAGCCGCCCGCCGA AGCAGAGCCGGCGCCGGGGTCCTCATCCCCACCGGTCCCGAGGGGCGGCTGCTGCCCGTCGCCACGAGGCCCAGGGGCCCGAGTGCCGAG CCCTTTGCTCCCTCGGCCGCGCGGGGACAGGGCTGCTGAGCAGCCTCCGCCTCTCCCGGCTGTGGGGGCCCCACTGAGTATGTCGGAGGA GAGCGACATGGACAAAGCCATCAAGGAAATACTGATAGACTCACTTAGTAAAAAGATTACTCAAGTATACAAAGTCTGCATTGGAGATGC TGAGGATGACGGCCTCAACCCAATTCAAAAGCTGGTAAAAGTAGAATCTCGCCTGGTAGAACTGTGTGACCTCATCGAATCCATTCCCAA AGAAAATGTGGAGGCAATTGAGAGGATGAAACAGAAAGAATGGCGGCAAAAGTTTCGTGATGAGAAAATGAAAGAAAAACAAAGACACCA ACAGGAAAGGCTAAAAGCTGCTCTGGAAAAAGCAGTAGCACAACCAAAGAAAAAGTTGGGAAGACGACTTGTCTTTCATTCAAAACCTCC ATCTGGTAACAAACAGCAGCTACCTTTAGTCAATGAAACAAAAACAAAATCACAAGAGGAAGAATATTTTTTTACTTGAATAAAAGCAGT |
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FusionGenePPI for MAPKAPK5_CCDC38 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MAPKAPK5 | HSPB1, HSPB2, MAPK6, MAPK14, RPL13, ZNF282, TAB1, MAPK4, MAPKAPK2, LSR, CDCA8, ZNF576, SRPK2, SRPK1, TP53, MAPK9, MAPK1, EIF4EBP1, MAPKAPK5 | CCDC38 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MAPKAPK5_CCDC38 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MAPKAPK5_CCDC38 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |