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Fusion gene ID: 42652 |
FusionGeneSummary for ZCCHC8_DIABLO |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ZCCHC8_DIABLO | Fusion gene ID: 42652 | Hgene | Tgene | Gene symbol | ZCCHC8 | DIABLO | Gene ID | 55596 | 56616 |
| Gene name | zinc finger CCHC-type containing 8 | diablo IAP-binding mitochondrial protein | |
| Synonyms | - | DFNA64|SMAC | |
| Cytomap | 12q24.31 | 12q24.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | zinc finger CCHC domain-containing protein 8TRAMP-like complex RNA-binding factor ZCCHC8zinc finger, CCHC domain containing 8 | diablo homolog, mitochondrialdiablo-like proteindirect IAP-binding protein with low pIsecond mitochondria-derived activator of caspase | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q6NZY4 | Q9NR28 | |
| Ensembl transtripts involved in fusion gene | ENST00000536306, ENST00000543897, ENST00000336229, ENST00000538116, | ENST00000413918, ENST00000353548, ENST00000443649, ENST00000464942, ENST00000267169, ENST00000475784, | |
| Fusion gene scores | * DoF score | 4 X 4 X 12=192 | 4 X 3 X 3=36 |
| # samples | 14 | 4 | |
| ** MAII score | log2(14/192*10)=-0.45567948377619 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ZCCHC8 [Title/Abstract] AND DIABLO [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 |
| 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 | PRAD | TCGA-G9-A9S0-01A | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| * 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-intron | ENST00000536306 | ENST00000413918 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5UTR-intron | ENST00000536306 | ENST00000353548 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5UTR-intron | ENST00000536306 | ENST00000443649 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5UTR-intron | ENST00000536306 | ENST00000464942 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5UTR-intron | ENST00000536306 | ENST00000267169 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5UTR-intron | ENST00000536306 | ENST00000475784 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5UTR-intron | ENST00000543897 | ENST00000413918 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5UTR-intron | ENST00000543897 | ENST00000353548 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5UTR-intron | ENST00000543897 | ENST00000443649 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5UTR-intron | ENST00000543897 | ENST00000464942 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5UTR-intron | ENST00000543897 | ENST00000267169 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5UTR-intron | ENST00000543897 | ENST00000475784 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5CDS-intron | ENST00000336229 | ENST00000413918 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5CDS-intron | ENST00000336229 | ENST00000353548 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5CDS-intron | ENST00000336229 | ENST00000443649 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5CDS-intron | ENST00000336229 | ENST00000464942 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5CDS-intron | ENST00000336229 | ENST00000267169 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| 5CDS-intron | ENST00000336229 | ENST00000475784 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| intron-intron | ENST00000538116 | ENST00000413918 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| intron-intron | ENST00000538116 | ENST00000353548 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| intron-intron | ENST00000538116 | ENST00000443649 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| intron-intron | ENST00000538116 | ENST00000464942 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| intron-intron | ENST00000538116 | ENST00000267169 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
| intron-intron | ENST00000538116 | ENST00000475784 | ZCCHC8 | chr12 | 122983374 | - | DIABLO | chr12 | 122702944 | - |
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FusionProtFeatures for ZCCHC8_DIABLO |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ZCCHC8 | DIABLO |
| Scaffolding subunit of the trimeric nuclear exosometargeting (NEXT) complex, a complex that directs a subset of non-coding short-lived RNAs for exosomal degradation. The RNA exosomeis fundamental for the degradation of RNA in eukaryotic nuclei.Substrate targeting is facilitated by its cofactor MTREX, whichlinks to RNA-binding protein adapters (PubMed:27871484). May beinvolved in pre-mRNA splicing (Probable).{ECO:0000269|PubMed:27871484, ECO:0000305|PubMed:16263084}. | Promotes apoptosis by activating caspases in thecytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing theinhibitory activity of inhibitor of apoptosis proteins (IAP).Inhibits the activity of BIRC6/bruce by inhibiting its binding tocaspases. Isoform 3 attenuates the stability and apoptosis-inhibiting activity of XIAP/BIRC4 by promoting XIAP/BIRC4ubiquitination and degradation through the ubiquitin-proteasomepathway. Isoform 3 also disrupts XIAP/BIRC4 interacting withprocessed caspase-9 and promotes caspase-3 activation. Isoform 1is defective in the capacity to down-regulate the XIAP/BIRC4abundance. {ECO:0000269|PubMed:10929711,ECO:0000269|PubMed:14523016, ECO:0000269|PubMed:15200957}. |
| 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 ZCCHC8_DIABLO |
| 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 ZCCHC8_DIABLO |
| 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 |
| ZCCHC8 | BRCA1, PPP2R1A, PPP2R2D, PPP2R2B, SIRT7, SKIV2L2, RBM7, CUL3, APP, U2AF1, THOC6, THOC1, U2AF2, USP7, PSMC2, MICB, TXNDC9, PSMA1, PSMC5, USP28, ZC3H15, PSMD13, PSMC4, PSMB6, PRPF40A, SOX2, CLK2, YWHAB, RPA3, RPA2, RPA1, DROSHA, RNF2, BMI1, RBM11, EXOSC3, EXOSC7, EXOSC8, RBM4B, LUC7L, PPP2R2C, INPPL1, NTRK1, XPO1, GBA, RET, SNCA, NCBP2, ZC3H18, C1D, HNRNPF, EXOSC1 | DIABLO | XIAP, NAIP, BIRC2, BIRC5, DIABLO, TNFSF14, LTBR, BIRC3, USP13, BIRC7, TRAF2, BIRC6, TOLLIP, TRAF1, UFM1, EEF1A1, ZNF746, UBE2K, ELAVL1, BIRC8, HTRA2, MALT1, UBL4A, AREL1, SLC25A47, NR4A1, MAML2, ARNT, AP1B1, ABCE1, GABPA, GMPPB, LIMCH1, SSRP1, ARL6IP1, CD40, PRKCD, SURF2, LIMA1, MTMR14, DUSP22, MTFR1, KLHL2, GFER, DYNLL1, DYNLL2, DLD |
| - 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 ZCCHC8_DIABLO |
| 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 ZCCHC8_DIABLO |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ZCCHC8 | C3714756 | Intellectual Disability | 1 | CTD_human |
| Tgene | DIABLO | C0007786 | Brain Ischemia | 1 | CTD_human |
| Tgene | DIABLO | C0020179 | Huntington Disease | 1 | CTD_human |
| Tgene | DIABLO | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| Tgene | DIABLO | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | DIABLO | C3279948 | DEAFNESS, AUTOSOMAL DOMINANT 64 | 1 | UNIPROT |
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