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Fusion gene ID: 20773 |
FusionGeneSummary for MANF_SETD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MANF_SETD2 | Fusion gene ID: 20773 | Hgene | Tgene | Gene symbol | MANF | SETD2 | Gene ID | 7873 | 29072 |
| Gene name | mesencephalic astrocyte derived neurotrophic factor | SET domain containing 2 | |
| Synonyms | ARMET|ARP | HBP231|HIF-1|HIP-1|HSPC069|HYPB|KMT3A|LLS|SET2|p231HBP | |
| Cytomap | 3p21.2 | 3p21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mesencephalic astrocyte-derived neurotrophic factorarginine-rich, mutated in early stage tumors | histone-lysine N-methyltransferase SETD2huntingtin interacting protein 1huntingtin yeast partner Bhuntingtin-interacting protein Blysine N-methyltransferase 3Aprotein-lysine N-methyltransferase SETD2 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P55145 | Q9BYW2 | |
| Ensembl transtripts involved in fusion gene | ENST00000528157, ENST00000470900, | ENST00000409792, ENST00000492397, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 6 X 6=216 |
| # samples | 1 | 7 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(7/216*10)=-1.6256044852185 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MANF [Title/Abstract] AND SETD2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| Tgene | SETD2 | GO:0010569 | regulation of double-strand break repair via homologous recombination | 24843002 |
| Tgene | SETD2 | GO:0018023 | peptidyl-lysine trimethylation | 27518565 |
| Tgene | SETD2 | GO:0018026 | peptidyl-lysine monomethylation | 28753426 |
| Tgene | SETD2 | GO:0032465 | regulation of cytokinesis | 27518565 |
| Tgene | SETD2 | GO:0032727 | positive regulation of interferon-alpha production | 28753426 |
| Tgene | SETD2 | GO:0034340 | response to type I interferon | 28753426 |
| Tgene | SETD2 | GO:0051607 | defense response to virus | 28753426 |
| Tgene | SETD2 | GO:0097198 | histone H3-K36 trimethylation | 23043551|24843002|26002201|27474439|28753426 |
| Tgene | SETD2 | GO:0097676 | histone H3-K36 dimethylation | 26002201 |
| Tgene | SETD2 | GO:1902850 | microtubule cytoskeleton organization involved in mitosis | 27518565 |
| Tgene | SETD2 | GO:1905634 | regulation of protein localization to chromatin | 24843002 |
| 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 | BRCA | TCGA-A2-A3KC-01A | MANF | chr3 | 51423766 | + | SETD2 | chr3 | 47108608 | - |
| * 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 | ENST00000528157 | ENST00000409792 | MANF | chr3 | 51423766 | + | SETD2 | chr3 | 47108608 | - |
| 5CDS-5UTR | ENST00000528157 | ENST00000492397 | MANF | chr3 | 51423766 | + | SETD2 | chr3 | 47108608 | - |
| 3UTR-3CDS | ENST00000470900 | ENST00000409792 | MANF | chr3 | 51423766 | + | SETD2 | chr3 | 47108608 | - |
| 3UTR-5UTR | ENST00000470900 | ENST00000492397 | MANF | chr3 | 51423766 | + | SETD2 | chr3 | 47108608 | - |
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FusionProtFeatures for MANF_SETD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MANF | SETD2 |
| Selectively promotes the survival of dopaminergicneurons of the ventral mid-brain (PubMed:12794311). ModulatesGABAergic transmission to the dopaminergic neurons of thesubstantia nigra (By similarity). Enhances spontaneous, as well asevoked, GABAergic inhibitory postsynaptic currents in dopaminergicneurons (By similarity). Inhibits cell proliferation andendoplasmic reticulum (ER) stress-induced cell death(PubMed:18561914, PubMed:22637475, PubMed:29497057). Retained inthe ER/sarcoplasmic reticulum (SR) through association with theendoplasmic reticulum chaperone protein HSPA5 under normalconditions (PubMed:22637475). Up-regulated and secreted by theER/SR in response to ER stress and hypoxia (PubMed:22637475).Following secretion by the ER/SR, directly binds to 3-O-sulfogalactosylceramide, a lipid sulfatide in the outer cellmembrane of target cells (PubMed:29497057). Sulfatide bindingpromotes its cellular uptake by endocytosis, and is required forits role in alleviating ER stress and cell toxicity under hypoxicand ER stress conditions (PubMed:29497057).{ECO:0000250|UniProtKB:P0C5H9, ECO:0000269|PubMed:12794311,ECO:0000269|PubMed:18561914, ECO:0000269|PubMed:22637475,ECO:0000269|PubMed:29497057}. |
| 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 | >SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 2117_2146 | 2020 | 2565 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | >SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 2149_2232 | 2020 | 2565 | Compositional bias | Note=Pro-rich |
| Tgene | >SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 2266_2365 | 2020 | 2565 | Compositional bias | Note=Gln-rich |
| Tgene | >SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 2389_2422 | 2020 | 2565 | Domain | WW |
| Tgene | >SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 2137_2366 | 2020 | 2565 | Region | Low charge region |
| - 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 |
| Tgene | SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 166_247 | 2020 | 2565 | Compositional bias | Note=Pro-rich |
| Tgene | SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 385_456 | 2020 | 2565 | Compositional bias | Note=Arg-rich |
| Tgene | SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 1494_1548 | 2020 | 2565 | Domain | AWS |
| Tgene | SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 1550_1667 | 2020 | 2565 | Domain | SET |
| Tgene | SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 1674_1690 | 2020 | 2565 | Domain | Post-SET |
| Tgene | SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 1560_1562 | 2020 | 2565 | Region | S-adenosyl-L-methionine binding |
| Tgene | SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 1603_1605 | 2020 | 2565 | Region | S-adenosyl-L-methionine binding |
| Tgene | SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 1628_1629 | 2020 | 2565 | Region | S-adenosyl-L-methionine binding |
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FusionGeneSequence for MANF_SETD2 |
| 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_MANF_ENST00000528157_chr3_51423766_+_SETD2_ENST00000409792_chr3_47108608_-_619aa MRRMWATQGLAVALALSVLPGSRALRPGDCEVCISYLGRFYQDLKDRDVTFSPATIENELIKFCREARGKENRLEVYRIPKKSQTEKENT TTERGRDAVGFRDQTPAPKTPNRSRERDPDKQTQNKEKRKRRSSLSPPSSAYERGTKRPDDRYDTPTSKKKVRIKDRNKLSTEERRKLFE QEVAQREAQKQQQQMQNLGMTSPLPYDSLGYNAPHHPFAGYPPGYPMQAYVDPSNPNAGKVLLPTPSMDPVCSPAPYDHAQPLVGHSTEP LSAPPPVPVVPHVAAPVEVSSSQYVAQSDGVVHQDSSVAVLPVPAPGPVQGQNYSVWDSNQQSVSVQQQYSPAQSQATIYYQGQTCPTVY GVTSPYSQTTPPIVQSYAQPSLQYIQGQQIFTAHPQGVVVQPAAAVTTIVAPGQPQPLQPSEMVVTNNLLDLPPPSPPKPKTIVLPPNWK TARDPEGKIYYYHVITRQTQWDPPTWESPGDDASLEHEAEMDLGTPTYDENPMKASKKPKTAEADTSSELAKKSKEVFRKEMSQFIVQCL |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_MANF_ENST00000528157_chr3_51423766_+_SETD2_ENST00000409792_chr3_47108608_-_1857nt ATGAGGAGGATGTGGGCCACGCAGGGGCTGGCGGTGGCGCTGGCTCTGAGCGTGCTGCCGGGCAGCCGGGCGCTGCGGCCGGGCGACTGC GAAGTTTGTATTTCTTATCTGGGAAGATTTTACCAGGACCTCAAAGACAGAGATGTCACATTCTCACCAGCCACTATTGAAAACGAACTT ATAAAGTTCTGCCGGGAAGCAAGAGGCAAAGAGAATCGGTTGGAGGTATATCGAATTCCAAAGAAAAGTCAAACTGAAAAGGAAAACACA ACAACTGAACGAGGAAGGGATGCTGTTGGCTTCAGAGATCAAACACCTGCCCCGAAGACTCCTAATAGGTCAAGAGAGAGAGACCCAGAC AAGCAAACTCAAAATAAAGAGAAAAGGAAACGAAGAAGCTCCCTCTCACCACCCTCTTCTGCCTATGAGCGGGGAACAAAAAGGCCAGAT GACAGATATGATACACCAACTTCTAAAAAGAAAGTACGAATTAAAGACCGCAATAAACTTTCTACAGAGGAACGCCGGAAGTTGTTTGAG CAAGAGGTGGCTCAACGGGAGGCTCAGAAACAACAGCAACAGATGCAGAACCTGGGAATGACATCACCACTGCCCTATGACTCTCTTGGT TATAATGCCCCGCATCATCCCTTTGCTGGTTACCCACCAGGTTATCCCATGCAGGCCTATGTGGATCCCAGCAACCCTAATGCTGGAAAG GTGCTCCTGCCCACACCCAGCATGGACCCAGTGTGTTCTCCTGCTCCTTATGATCATGCTCAGCCCTTGGTGGGACATTCTACAGAACCC CTTTCTGCCCCTCCACCAGTACCAGTGGTGCCACATGTGGCAGCTCCTGTGGAAGTTTCCAGTTCCCAGTATGTGGCCCAGAGTGATGGT GTAGTACACCAAGACTCCAGCGTTGCTGTCTTGCCAGTGCCGGCCCCCGGCCCAGTTCAGGGACAGAATTATAGTGTTTGGGATTCAAAC CAACAGTCTGTCAGTGTACAGCAGCAGTACTCTCCTGCACAGTCTCAAGCAACCATATATTATCAAGGACAGACATGTCCAACAGTCTAT GGTGTGACATCACCTTATTCACAGACAACTCCACCAATTGTACAGAGTTATGCCCAGCCAAGTCTTCAGTATATCCAGGGGCAACAGATT TTCACAGCTCATCCACAAGGAGTGGTGGTACAGCCAGCCGCAGCAGTGACTACAATAGTTGCACCAGGGCAGCCTCAGCCCTTGCAGCCA TCTGAAATGGTTGTGACAAATAATCTCTTGGATCTGCCGCCCCCCTCTCCTCCCAAACCAAAAACCATTGTCTTACCTCCCAACTGGAAG ACAGCTCGAGATCCAGAAGGGAAGATTTATTACTACCATGTGATCACAAGGCAGACTCAGTGGGATCCTCCTACTTGGGAAAGCCCAGGA GATGATGCCAGCCTTGAGCATGAAGCTGAGATGGACCTGGGAACTCCAACATATGATGAAAACCCCATGAAGGCCTCGAAAAAGCCCAAG ACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGATGTCCCAGTTCATCGTCCAGTGCCTG AACCCTTACCGGAAACCTGACTGCAAAGTGGGAAGAATTACCACAACTGAAGACTTTAAACATCTGGCTCGCAAGCTGACTCACGGTGTT ATGAATAAGGAGCTGAAGTACTGTAAGAATCCTGAGGACCTGGAGTGCAATGAGAATGTGAAACACAAAACCAAGGAGTACATTAAGAAG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_MANF_ENST00000528157_chr3_51423766_+_SETD2_ENST00000409792_chr3_47108608_-_2557nt CTTCCGTCGCTGCTGTAGTCGCTTCCTGCGGCCAGCCCGGGTTCAATCAGCGGCCGACAACTGTCTAGGGCTCAGACACCACCAGCCAAT GAGGGAGGGCAGCGTGGAGCCGCCCGTCTGGGCTCGCGGCTCCTGGACCAATGGGGAAGTGGCATGTGGGAGGGCGCCGGGGGGCCCCCC GCCAATGGGGAGCTACGGCGCGCGGCCGGGACTTGGAGGCGGTGCGGCGCGGCGGGTGCGGTTCAGTCGGTCGGCGGCGGCAGCGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGATGAGGAGGATGTGGGCCACGCAGGGGCTGGCGGTGGCGCTGGCTCTGAGCGTGCTGCCGGGCA GCCGGGCGCTGCGGCCGGGCGACTGCGAAGTTTGTATTTCTTATCTGGGAAGATTTTACCAGGACCTCAAAGACAGAGATGTCACATTCT CACCAGCCACTATTGAAAACGAACTTATAAAGTTCTGCCGGGAAGCAAGAGGCAAAGAGAATCGGTTGGAGGTATATCGAATTCCAAAGA AAAGTCAAACTGAAAAGGAAAACACAACAACTGAACGAGGAAGGGATGCTGTTGGCTTCAGAGATCAAACACCTGCCCCGAAGACTCCTA ATAGGTCAAGAGAGAGAGACCCAGACAAGCAAACTCAAAATAAAGAGAAAAGGAAACGAAGAAGCTCCCTCTCACCACCCTCTTCTGCCT ATGAGCGGGGAACAAAAAGGCCAGATGACAGATATGATACACCAACTTCTAAAAAGAAAGTACGAATTAAAGACCGCAATAAACTTTCTA CAGAGGAACGCCGGAAGTTGTTTGAGCAAGAGGTGGCTCAACGGGAGGCTCAGAAACAACAGCAACAGATGCAGAACCTGGGAATGACAT CACCACTGCCCTATGACTCTCTTGGTTATAATGCCCCGCATCATCCCTTTGCTGGTTACCCACCAGGTTATCCCATGCAGGCCTATGTGG ATCCCAGCAACCCTAATGCTGGAAAGGTGCTCCTGCCCACACCCAGCATGGACCCAGTGTGTTCTCCTGCTCCTTATGATCATGCTCAGC CCTTGGTGGGACATTCTACAGAACCCCTTTCTGCCCCTCCACCAGTACCAGTGGTGCCACATGTGGCAGCTCCTGTGGAAGTTTCCAGTT CCCAGTATGTGGCCCAGAGTGATGGTGTAGTACACCAAGACTCCAGCGTTGCTGTCTTGCCAGTGCCGGCCCCCGGCCCAGTTCAGGGAC AGAATTATAGTGTTTGGGATTCAAACCAACAGTCTGTCAGTGTACAGCAGCAGTACTCTCCTGCACAGTCTCAAGCAACCATATATTATC AAGGACAGACATGTCCAACAGTCTATGGTGTGACATCACCTTATTCACAGACAACTCCACCAATTGTACAGAGTTATGCCCAGCCAAGTC TTCAGTATATCCAGGGGCAACAGATTTTCACAGCTCATCCACAAGGAGTGGTGGTACAGCCAGCCGCAGCAGTGACTACAATAGTTGCAC CAGGGCAGCCTCAGCCCTTGCAGCCATCTGAAATGGTTGTGACAAATAATCTCTTGGATCTGCCGCCCCCCTCTCCTCCCAAACCAAAAA CCATTGTCTTACCTCCCAACTGGAAGACAGCTCGAGATCCAGAAGGGAAGATTTATTACTACCATGTGATCACAAGGCAGACTCAGTGGG ATCCTCCTACTTGGGAAAGCCCAGGAGATGATGCCAGCCTTGAGCATGAAGCTGAGATGGACCTGGGAACTCCAACATATGATGAAAACC CCATGAAGGCCTCGAAAAAGCCCAAGACAGCAGAAGCAGACACCTCCAGTGAACTAGCAAAGAAAAGCAAAGAAGTATTCAGAAAAGAGA TGTCCCAGTTCATCGTCCAGTGCCTGAACCCTTACCGGAAACCTGACTGCAAAGTGGGAAGAATTACCACAACTGAAGACTTTAAACATC TGGCTCGCAAGCTGACTCACGGTGTTATGAATAAGGAGCTGAAGTACTGTAAGAATCCTGAGGACCTGGAGTGCAATGAGAATGTGAAAC ACAAAACCAAGGAGTACATTAAGAAGTACATGCAGAAGTTTGGGGCTGTTTACAAACCCAAAGAGGACACTGAATTAGAGTGACTGTTGG GCCAGGGTGGGAGGATGGGTGGTCAGGTAAGACAGACTCTAGGGAGAGGAAATCCTGTGGGCCTTTCTGTCCCACCCCTGTCAGCACTGT GCTACTGATGATACATCACCCTGGGGAATTCAACCCTGCAGATGTCAACTGAAGGCCACAAAAATGAACTCCATCTACAAGTGATTACCT AGTTGTGAGCTGTTGGCATGTGGTTAGAAGCCATCAGAGGTGCAAGGGCTTAGAAAAGACCCTGGCCAGACCTGACTCCACTCTTAAACC TGGGTCTTCTCCTTGGCGGTGCTGTCAGCGCACAGACCCATGCGCATCCCCACCCACAACCCTTTACCCTGATGATCTGTATTATATTTT |
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FusionGenePPI for MANF_SETD2 |
| 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 |
| MANF | ZDHHC17, CDNF, C1orf123, ENOPH1, MED4, MED20, TCTN1, BCL2L15, ADAM21 | SETD2 | HTT, IWS1, TP53, HIST1H3A, SETD2, POLR2A, ELAVL1, ATXN1, CIC, CBX8, SOX2, SMAD3, SIAH2, CLK2, HIST3H3, WDR37, ARHGEF10, LUC7L, SCARA3, AURKA, EIF3I, XPO1, RASSF8, GAN, ATM, HNRNPLL, NXF2, HSPB8, RSBN1, F9, CPNE7, PIP4K2A, TRPC4AP, JMJD6, TRIM25 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| Tgene | SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 2457_2564 | 2020 | 2565 | POLR2A |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Tgene | SETD2 | chr3:51423766 | chr3:47108608 | ENST00000409792 | - | 11 | 21 | 1418_1714 | 2020 | 2565 | TUBA1A |
| - 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 MANF_SETD2 |
| 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 MANF_SETD2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SETD2 | C0007134 | Renal Cell Carcinoma | 2 | CTD_human |
| Tgene | SETD2 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | SETD2 | C0010701 | Phyllodes Tumor | 1 | CTD_human |
| Tgene | SETD2 | C0023418 | leukemia | 1 | CTD_human |
| Tgene | SETD2 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Tgene | SETD2 | C0920269 | Microsatellite Instability | 1 | CTD_human |
| Tgene | SETD2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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