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Fusion gene ID: 18099 |
FusionGeneSummary for JUN_MPV17 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: JUN_MPV17 | Fusion gene ID: 18099 | Hgene | Tgene | Gene symbol | JUN | MPV17 | Gene ID | 3725 | 4358 |
| Gene name | Jun proto-oncogene, AP-1 transcription factor subunit | MPV17, mitochondrial inner membrane protein | |
| Synonyms | AP-1|AP1|c-Jun|p39 | MTDPS6|SYM1 | |
| Cytomap | 1p32.1 | 2p23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor AP-1Jun activation domain binding proteinactivator protein 1enhancer-binding protein AP1jun oncogeneproto-oncogene c-Junv-jun avian sarcoma virus 17 oncogene homologv-jun sarcoma virus 17 oncogene homolog | protein Mpv17MpV17 mitochondrial inner membrane proteinMpv17, human homolog of glomerulosclerosis and nephrotic syndrome | |
| Modification date | 20180527 | 20180525 | |
| UniProtAcc | P05412 | P39210 | |
| Ensembl transtripts involved in fusion gene | ENST00000371222, | ENST00000233545, ENST00000402310, ENST00000380044, ENST00000357186, ENST00000402722, ENST00000405983, ENST00000405076, ENST00000403262, ENST00000399052, | |
| Fusion gene scores | * DoF score | 4 X 4 X 1=16 | 2 X 2 X 1=4 |
| # samples | 8 | 2 | |
| ** MAII score | log2(8/16*10)=2.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: JUN [Title/Abstract] AND MPV17 [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 | JUN | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9732876 |
| Hgene | JUN | GO:0007265 | Ras protein signal transduction | 24623306 |
| Hgene | JUN | GO:0043392 | negative regulation of DNA binding | 14645924 |
| Hgene | JUN | GO:0043922 | negative regulation by host of viral transcription | 2833704 |
| Hgene | JUN | GO:0043923 | positive regulation by host of viral transcription | 2833704 |
| Hgene | JUN | GO:0045892 | negative regulation of transcription, DNA-templated | 2833704 |
| Hgene | JUN | GO:0045893 | positive regulation of transcription, DNA-templated | 2833704|9732876 |
| Hgene | JUN | GO:0045944 | positive regulation of transcription by RNA polymerase II | 2833704|10508860|12490281 |
| Hgene | JUN | GO:0060395 | SMAD protein signal transduction | 9732876 |
| Hgene | JUN | GO:2000144 | positive regulation of DNA-templated transcription, initiation | 23027619 |
| 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 |
| ChiTaRS3.1 | CR981234 | JUN | chr1 | 59248665 | - | MPV17 | chr2 | 27532533 | - |
| * 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 |
| intron-3UTR | ENST00000371222 | ENST00000233545 | JUN | chr1 | 59248665 | - | MPV17 | chr2 | 27532533 | - |
| intron-3UTR | ENST00000371222 | ENST00000402310 | JUN | chr1 | 59248665 | - | MPV17 | chr2 | 27532533 | - |
| intron-3UTR | ENST00000371222 | ENST00000380044 | JUN | chr1 | 59248665 | - | MPV17 | chr2 | 27532533 | - |
| intron-3UTR | ENST00000371222 | ENST00000357186 | JUN | chr1 | 59248665 | - | MPV17 | chr2 | 27532533 | - |
| intron-3UTR | ENST00000371222 | ENST00000402722 | JUN | chr1 | 59248665 | - | MPV17 | chr2 | 27532533 | - |
| intron-3UTR | ENST00000371222 | ENST00000405983 | JUN | chr1 | 59248665 | - | MPV17 | chr2 | 27532533 | - |
| intron-intron | ENST00000371222 | ENST00000405076 | JUN | chr1 | 59248665 | - | MPV17 | chr2 | 27532533 | - |
| intron-intron | ENST00000371222 | ENST00000403262 | JUN | chr1 | 59248665 | - | MPV17 | chr2 | 27532533 | - |
| intron-intron | ENST00000371222 | ENST00000399052 | JUN | chr1 | 59248665 | - | MPV17 | chr2 | 27532533 | - |
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FusionProtFeatures for JUN_MPV17 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| JUN | MPV17 |
| Transcription factor that recognizes and binds to theenhancer heptamer motif 5'-TGA[CG]TCA-3'. Promotes activity ofNR5A1 when phosphorylated by HIPK3 leading to increasedsteroidogenic gene expression upon cAMP signaling pathwaystimulation. Involved in activated KRAS-mediated transcriptionalactivation of USP28 in colorectal cancer (CRC) cells(PubMed:24623306). Binds to the USP28 promoter in colorectalcancer (CRC) cells (PubMed:24623306).{ECO:0000269|PubMed:10995748, ECO:0000269|PubMed:17210646,ECO:0000269|PubMed:24623306}. | Involved in mitochondria homeostasis. May be involved inthe metabolism of reactive oxygen species and control of oxidativephosphorylation and mitochondrial DNA (mtDNA) maintenance. |
| 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 |
| - 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 |
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FusionGeneSequence for JUN_MPV17 |
| 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 JUN_MPV17 |
| 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 |
| - 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 JUN_MPV17 |
| 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 |
| Hgene | JUN | P05412 | DB00570 | Vinblastine | Transcription factor AP-1 | small molecule | approved |
| Hgene | JUN | P05412 | DB01029 | Irbesartan | Transcription factor AP-1 | small molecule | approved|investigational |
| Hgene | JUN | P05412 | DB01169 | Arsenic trioxide | Transcription factor AP-1 | small molecule | approved|investigational |
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RelatedDiseases for JUN_MPV17 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | JUN | C0009375 | Colonic Neoplasms | 2 | CTD_human |
| Hgene | JUN | C0023903 | Liver neoplasms | 2 | CTD_human |
| Hgene | JUN | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | JUN | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | JUN | C0007786 | Brain Ischemia | 1 | CTD_human |
| Hgene | JUN | C0018843 | Heat Stroke | 1 | CTD_human |
| Hgene | JUN | C0018923 | Hemangiosarcoma | 1 | CTD_human |
| Hgene | JUN | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | JUN | C0021846 | Intestinal Polyps | 1 | CTD_human |
| Hgene | JUN | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | JUN | C0029463 | Osteosarcoma | 1 | CTD_human |
| Hgene | JUN | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| Hgene | JUN | C0035126 | Reperfusion Injury | 1 | CTD_human |
| Hgene | JUN | C0038220 | Status Epilepticus | 1 | CTD_human |
| Hgene | JUN | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | JUN | C0546127 | Mercury Poisoning, Nervous System | 1 | CTD_human |
| Hgene | JUN | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | JUN | C2239176 | Liver carcinoma | 1 | CTD_human |
| Hgene | JUN | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | MPV17 | C1850406 | NAVAJO NEUROHEPATOPATHY | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | MPV17 | C0009197 | Cochlear Diseases | 1 | CTD_human |
| Tgene | MPV17 | C0017668 | Focal glomerulosclerosis | 1 | CTD_human |
| Tgene | MPV17 | C0033687 | Proteinuria | 1 | CTD_human |
| Tgene | MPV17 | C0549567 | Pigmentation Disorders | 1 | CTD_human |
| Tgene | MPV17 | C0751651 | Mitochondrial Diseases | 1 | CTD_human |
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