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Fusion gene ID: 25621 |
FusionGeneSummary for OTUD4_CHCHD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: OTUD4_CHCHD2 | Fusion gene ID: 25621 | Hgene | Tgene | Gene symbol | OTUD4 | CHCHD2 | Gene ID | 54726 | 51142 |
| Gene name | OTU deubiquitinase 4 | coiled-coil-helix-coiled-coil-helix domain containing 2 | |
| Synonyms | DUBA6|HIN1|HSHIN1 | C7orf17|MIX17B|MNRR1|NS2TP|PARK22 | |
| Cytomap | 4q31.21 | 7p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | OTU domain-containing protein 4HIV-1 induced protein HIN-1 | coiled-coil-helix-coiled-coil-helix domain-containing protein 216.7kD proteinHCV NS2 trans-regulated proteinMIX17 homolog Baging-associated gene 10 proteincoiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrialmitochondria nuc | |
| Modification date | 20180522 | 20180527 | |
| UniProtAcc | Q01804 | Q9Y6H1 | |
| Ensembl transtripts involved in fusion gene | ENST00000455611, ENST00000454497, ENST00000447906, ENST00000509620, ENST00000296579, | ENST00000395422, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: OTUD4 [Title/Abstract] AND CHCHD2 [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 | OTUD4 | GO:0034122 | negative regulation of toll-like receptor signaling pathway | 29395066 |
| Hgene | OTUD4 | GO:0070536 | protein K63-linked deubiquitination | 29395066 |
| Hgene | OTUD4 | GO:0071108 | protein K48-linked deubiquitination | 23827681 |
| Hgene | OTUD4 | GO:1901537 | positive regulation of DNA demethylation | 25944111 |
| Hgene | OTUD4 | GO:1903093 | regulation of protein K48-linked deubiquitination | 25944111 |
| Hgene | OTUD4 | GO:2000660 | negative regulation of interleukin-1-mediated signaling pathway | 29395066 |
| Tgene | CHCHD2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 23303788 |
| Tgene | CHCHD2 | GO:1900037 | regulation of cellular response to hypoxia | 23303788 |
| 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 | LD | BLCA | TCGA-FD-A3B7-01A | OTUD4 | chr4 | 146080655 | - | CHCHD2 | chr7 | 56172168 | - |
| * 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 |
| 5UTR-3CDS | ENST00000455611 | ENST00000395422 | OTUD4 | chr4 | 146080655 | - | CHCHD2 | chr7 | 56172168 | - |
| Frame-shift | ENST00000454497 | ENST00000395422 | OTUD4 | chr4 | 146080655 | - | CHCHD2 | chr7 | 56172168 | - |
| In-frame | ENST00000447906 | ENST00000395422 | OTUD4 | chr4 | 146080655 | - | CHCHD2 | chr7 | 56172168 | - |
| intron-3CDS | ENST00000509620 | ENST00000395422 | OTUD4 | chr4 | 146080655 | - | CHCHD2 | chr7 | 56172168 | - |
| intron-3CDS | ENST00000296579 | ENST00000395422 | OTUD4 | chr4 | 146080655 | - | CHCHD2 | chr7 | 56172168 | - |
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FusionProtFeatures for OTUD4_CHCHD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| OTUD4 | CHCHD2 |
| Deubiquitinase which hydrolyzes the isopeptide bondbetween the ubiquitin C-terminus and the lysine epsilon-aminogroup of the target protein (PubMed:23827681, PubMed:25944111,PubMed:29395066). May negatively regulate inflammatory andpathogen recognition signaling in innate immune response. Uponphosphorylation at Ser-202 and Ser-204 residues, via IL-1 receptorand Toll-like receptor signaling pathway, specificallydeubiquitinates 'Lys-63'-polyubiquitinated MYD88 adapter proteintriggering down-regulation of NF-kappa-B-dependent transcriptionof inflammatory mediators (PubMed:29395066). Independently of thecatalytic activity, acts as a scaffold for alternativedeubiquitinases to assemble specific deubiquitinase-substratecomplexes. Associates with USP7 and USP9X deubiquitinases tostabilize alkylation repair enzyme ALKBH3, thereby promoting therepair of alkylated DNA lesions (PubMed:25944111).{ECO:0000269|PubMed:23827681, ECO:0000269|PubMed:25944111,ECO:0000269|PubMed:29395066}. | Transcription factor. Binds to the oxygen responsiveelement of COX4I2 and activates its transcription under hypoxiaconditions (4% oxygen), as well as normoxia conditions (20%oxygen) (PubMed:23303788). {ECO:0000269|PubMed:23303788}. |
| 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 OTUD4_CHCHD2 |
| 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_OTUD4_ENST00000447906_chr4_146080655_-_CHCHD2_ENST00000395422_chr7_56172168_-_345aa MEAAVGVPDGGDQGGAGPREDATPMDAYLRKLGLYRKLVAKDGSCLFRAVAEQVLHSQSRHVEVRMACIHYLRENREKFEAFIEGSFEEY LKRLENPQEWVGQVEISALSLMYRKDFIIYREPNVSPSQVTENNFPEKVLLCFSNGNHYDIVYPIKYKESSAMCQSLLYELLYEKVFKTD VSKIVMELDTLEVADEDNSEISDSEDDSCNRAPQMRAAPRPAPVAQPPAAAPPSAVGSSAAAPRQPGLMAQMATTAAGVAVGSAVGHTLG |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_OTUD4_ENST00000447906_chr4_146080655_-_CHCHD2_ENST00000395422_chr7_56172168_-_1035nt ATGGAGGCTGCCGTCGGCGTCCCCGACGGCGGGGACCAGGGCGGCGCGGGGCCCCGCGAGGACGCGACGCCCATGGACGCCTATCTGCGG AAACTGGGCTTGTATCGGAAACTGGTCGCCAAGGACGGGTCGTGCCTGTTCCGGGCCGTGGCGGAGCAGGTATTGCACTCTCAGTCTCGC CATGTTGAAGTCAGAATGGCCTGTATTCACTATCTTCGAGAGAACAGAGAGAAATTTGAAGCGTTTATAGAAGGATCATTTGAAGAATAT TTAAAGCGTTTGGAAAATCCACAGGAATGGGTAGGACAAGTGGAAATAAGTGCCCTTTCTCTTATGTACAGGAAAGATTTTATAATTTAT CGGGAACCAAATGTTTCTCCTTCACAAGTAACAGAAAATAATTTTCCTGAAAAGGTGTTACTGTGTTTTTCAAATGGAAATCATTATGAT ATTGTGTATCCCATAAAGTATAAAGAAAGCTCTGCTATGTGTCAGTCTCTCCTTTATGAATTGCTGTATGAGAAGGTATTTAAAACTGAT GTTAGTAAAATTGTGATGGAACTAGACACGTTGGAAGTAGCTGATGAAGATAACAGTGAAATATCAGATTCAGAGGATGACAGTTGCAAC CGGGCCCCTCAGATGAGAGCTGCACCCAGGCCAGCACCAGTCGCTCAGCCACCAGCAGCGGCACCCCCATCTGCAGTTGGCTCTTCTGCT GCTGCGCCCCGGCAGCCAGGTCTGATGGCCCAGATGGCAACCACTGCAGCTGGCGTGGCTGTGGGCTCTGCTGTGGGGCACACATTGGGT CACGCCATTACTGGGGGCTTCAGTGGAGGAAGTAATGCTGAGCCTGCGAGGCCTGACATCACTTACCAGGAGCCTCAGGGAACCCAGCCA GCACAGCAGCAGCAGCCTTGCCTCTATGAGATCAAACAGTTTCTGGAGTGTGCCCAGAACCAGGGTGACATCAAGCTCTGTGAGGGTTTC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_OTUD4_ENST00000447906_chr4_146080655_-_CHCHD2_ENST00000395422_chr7_56172168_-_1505nt GGCAGGGCTTCCCTATGCGCCCGGAGAGCGCGGACCGCTGCCTCGGGCCGCCGCCGCCTGCCGCCGCTCGCGGAGCCCGAGCCCCAGCCC GAGCCGCCGCCTGCCCCAGGCCGGGGCGTCGAGCAGCCGGCGGCCTGGCCATGTGGGGCTAGCCCTCGCCGCGCCTGGCCTGCAGCAGGA CCAGCAACATGGAGGCTGCCGTCGGCGTCCCCGACGGCGGGGACCAGGGCGGCGCGGGGCCCCGCGAGGACGCGACGCCCATGGACGCCT ATCTGCGGAAACTGGGCTTGTATCGGAAACTGGTCGCCAAGGACGGGTCGTGCCTGTTCCGGGCCGTGGCGGAGCAGGTATTGCACTCTC AGTCTCGCCATGTTGAAGTCAGAATGGCCTGTATTCACTATCTTCGAGAGAACAGAGAGAAATTTGAAGCGTTTATAGAAGGATCATTTG AAGAATATTTAAAGCGTTTGGAAAATCCACAGGAATGGGTAGGACAAGTGGAAATAAGTGCCCTTTCTCTTATGTACAGGAAAGATTTTA TAATTTATCGGGAACCAAATGTTTCTCCTTCACAAGTAACAGAAAATAATTTTCCTGAAAAGGTGTTACTGTGTTTTTCAAATGGAAATC ATTATGATATTGTGTATCCCATAAAGTATAAAGAAAGCTCTGCTATGTGTCAGTCTCTCCTTTATGAATTGCTGTATGAGAAGGTATTTA AAACTGATGTTAGTAAAATTGTGATGGAACTAGACACGTTGGAAGTAGCTGATGAAGATAACAGTGAAATATCAGATTCAGAGGATGACA GTTGCAACCGGGCCCCTCAGATGAGAGCTGCACCCAGGCCAGCACCAGTCGCTCAGCCACCAGCAGCGGCACCCCCATCTGCAGTTGGCT CTTCTGCTGCTGCGCCCCGGCAGCCAGGTCTGATGGCCCAGATGGCAACCACTGCAGCTGGCGTGGCTGTGGGCTCTGCTGTGGGGCACA CATTGGGTCACGCCATTACTGGGGGCTTCAGTGGAGGAAGTAATGCTGAGCCTGCGAGGCCTGACATCACTTACCAGGAGCCTCAGGGAA CCCAGCCAGCACAGCAGCAGCAGCCTTGCCTCTATGAGATCAAACAGTTTCTGGAGTGTGCCCAGAACCAGGGTGACATCAAGCTCTGTG AGGGTTTCAATGAGGTGCTGAAACAGTGCCGACTTGCAAACGGATTGGCCTAATGAAGAAGTTCAACCTGGAGAGATGGAAAATCAGCTC TCATAACTAAGTTAATTTAGTATAAAAATAGAATTGATAGTGAGGGTATAAAGTGTAACCATCAGTTAAACCTCTCCTGTCATTCCTGGC TTCCTTGCTTCAGAATTGAAATGGAAGTGGGGGTGTCCCTACTCTGTAGAATCTGGGACTGGGCAAATGTTTGTGTGGCCTCCTTAAACT |
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FusionGenePPI for OTUD4_CHCHD2 |
| 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 |
| OTUD4 | ATG12, ILK, RUNX1T1, CLEC3B, BRF2, DSG1, FLNC, GALK1, GLA, DNAJB1, KRT8, KRT31, KRT33B, KRT85, MOG, OAT, TUBA1A, KRT36, FXR2, NPEPPS, BAG5, GPHN, MYCBP, NMD3, PARP11, RPTN, AGO3, GRK5, FMNL1, UBC, REL, STAT1, TCF4, EXOSC8, WBP2NL, RBFOX2, LHX6, XPO1, HIST1H3E, HSF2, PRPF4, GAR1, NAF1, ALKBH3, ALKBH2, USP7, USP9X, TRAF1, RC3H1, DUSP10, FAN1, TPTE2, VTN, HTRA4, C4orf26, KIAA1683, TSPYL6, CYLD | CHCHD2 | SIRT1, RPL24, DSG2, ABCC2, COX5B, GOLGA2, KRT31, REL, TCF4, EHMT2, IKZF3, ADAMTSL4, TRIM54, LHX4, KRT40, INCA1, CHST8, ATP5H, CHCHD6, KHSRP, NDUFA8, TOMM40, PPA2, TREX1, CHCHD10, CLPX, NRD1, CHCHD2, RNASEH1, IDE, TRMT10C, GRSF1, PDE12, C15orf48, THG1L, COQ9, PTPMT1, CISD3, POLDIP2, PMPCA, PMPCB, C17orf89, PAK7, ADCK3, TIMM44, FAM136A, SPATA20, LYRM4, COQ7, FARS2, DHRS4, PITRM1, PTRH2, COX6C, ADCK5, AFG3L2, COX6A1, C1QBP, COQ6, GLRX5, NDUFS3, GHITM, TIMM50, ECH1, ADCK4, UQCC2, C2orf47, TRMT1, ADCK1, NDUFA4, COQ4, ATP5F1, LACE1, C7orf55, NME4, ATP5A1, XPNPEP3, POLRMT, USMG5, LYRM5, YBEY, NARS2, COQ10B, TMEM126A, NIPSNAP1, APOOL, FKBP10, ATP5J, COQ3, ATP5C1, COX5A, SPRYD4, SARS2, FOXD4, BHLHA15, PRPF3, PRPF4, ALYREF, PDHA1, SDHA, SOD1 |
| - 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 OTUD4_CHCHD2 |
| 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 OTUD4_CHCHD2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CHCHD2 | C4225238 | PARKINSON DISEASE 22, AUTOSOMAL DOMINANT | 1 | UNIPROT |
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