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Fusion gene ID: 5535 |
FusionGeneSummary for CARD8_POLR3H |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CARD8_POLR3H | Fusion gene ID: 5535 | Hgene | Tgene | Gene symbol | CARD8 | POLR3H | Gene ID | 22900 | 171568 |
| Gene name | caspase recruitment domain family member 8 | RNA polymerase III subunit H | |
| Synonyms | CARDINAL|DACAR|DAKAR|NDPP|NDPP1|TUCAN | RPC22.9|RPC8 | |
| Cytomap | 19q13.33 | 22q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | caspase recruitment domain-containing protein 8CARD inhibitor of NF-kappaB-activating ligandsapoptotic protein NDPP1tumor up-regulated CARD-containing antagonist of CASP9tumor up-regulated CARD-containing antagonist of caspase nine | DNA-directed RNA polymerase III subunit RPC8DNA-directed RNA polymerase III subunit 22.9 kDa polypeptideDNA-directed RNA polymerase III subunit HRNA nucleotidyltransferase (DNA-directed)RNA polymerase III subunit C8polymerase (RNA) III (DNA directed) | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y2G2 | Q9Y535 | |
| Ensembl transtripts involved in fusion gene | ENST00000520753, ENST00000521613, ENST00000519940, ENST00000519332, ENST00000520007, ENST00000600800, ENST00000357778, ENST00000391898, ENST00000359009, ENST00000447740, ENST00000520153, ENST00000520015, ENST00000522431, | ENST00000396504, ENST00000355209, ENST00000337566, ENST00000407461, ENST00000420561, | |
| Fusion gene scores | * DoF score | 7 X 7 X 4=196 | 5 X 6 X 4=120 |
| # samples | 7 | 5 | |
| ** MAII score | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/120*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CARD8 [Title/Abstract] AND POLR3H [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 | CARD8 | GO:0031665 | negative regulation of lipopolysaccharide-mediated signaling pathway | 11821383 |
| Hgene | CARD8 | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling | 11551959 |
| Hgene | CARD8 | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 11821383|15030775 |
| Hgene | CARD8 | GO:0050713 | negative regulation of interleukin-1 beta secretion | 11821383 |
| Hgene | CARD8 | GO:0050718 | positive regulation of interleukin-1 beta secretion | 15030775 |
| Hgene | CARD8 | GO:0097340 | inhibition of cysteine-type endopeptidase activity | 11821383 |
| Tgene | POLR3H | GO:0006139 | nucleobase-containing compound metabolic process | 12391170 |
| Tgene | POLR3H | GO:0006383 | transcription by RNA polymerase III | 12391170 |
| 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 | SKCM | TCGA-FS-A1ZD-06A | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| * 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-intron | ENST00000520753 | ENST00000396504 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520753 | ENST00000355209 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520753 | ENST00000337566 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520753 | ENST00000407461 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520753 | ENST00000420561 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000521613 | ENST00000396504 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000521613 | ENST00000355209 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000521613 | ENST00000337566 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000521613 | ENST00000407461 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000521613 | ENST00000420561 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000519940 | ENST00000396504 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000519940 | ENST00000355209 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000519940 | ENST00000337566 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000519940 | ENST00000407461 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000519940 | ENST00000420561 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000519332 | ENST00000396504 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000519332 | ENST00000355209 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000519332 | ENST00000337566 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000519332 | ENST00000407461 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000519332 | ENST00000420561 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520007 | ENST00000396504 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520007 | ENST00000355209 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520007 | ENST00000337566 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520007 | ENST00000407461 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520007 | ENST00000420561 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000600800 | ENST00000396504 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000600800 | ENST00000355209 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000600800 | ENST00000337566 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000600800 | ENST00000407461 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000600800 | ENST00000420561 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000357778 | ENST00000396504 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000357778 | ENST00000355209 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000357778 | ENST00000337566 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000357778 | ENST00000407461 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000357778 | ENST00000420561 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000391898 | ENST00000396504 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000391898 | ENST00000355209 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000391898 | ENST00000337566 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000391898 | ENST00000407461 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000391898 | ENST00000420561 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000359009 | ENST00000396504 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000359009 | ENST00000355209 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000359009 | ENST00000337566 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000359009 | ENST00000407461 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000359009 | ENST00000420561 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000447740 | ENST00000396504 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000447740 | ENST00000355209 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000447740 | ENST00000337566 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000447740 | ENST00000407461 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000447740 | ENST00000420561 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520153 | ENST00000396504 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520153 | ENST00000355209 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520153 | ENST00000337566 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520153 | ENST00000407461 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520153 | ENST00000420561 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520015 | ENST00000396504 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520015 | ENST00000355209 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520015 | ENST00000337566 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520015 | ENST00000407461 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000520015 | ENST00000420561 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000522431 | ENST00000396504 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000522431 | ENST00000355209 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000522431 | ENST00000337566 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000522431 | ENST00000407461 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
| intron-intron | ENST00000522431 | ENST00000420561 | CARD8 | chr19 | 48752734 | - | POLR3H | chr22 | 41926900 | - |
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FusionProtFeatures for CARD8_POLR3H |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CARD8 | POLR3H |
| Inhibits NF-kappa-B activation. May participate in aregulatory mechanism that coordinates cellular responsescontrolled by NF-kappa-B transcription factor. May be a componentof the inflammasome, a protein complex which also includes PYCARD,NALP2 and CASP1 and whose function would be the activation ofproinflammatory caspases. | DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Specific peripheric component of RNA polymerase IIIwhich synthesizes small RNAs, such as 5S rRNA and tRNAs. Plays akey role in sensing and limiting infection by intracellularbacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensorinvolved in innate immune response. Can sense non-self dsDNA thatserves as template for transcription into dsRNA. The non-self RNApolymerase III transcripts, such as Epstein-Barr virus-encodedRNAs (EBERs) induce type I interferon and NF- Kappa-B through theRIG-I pathway (By similarity). {ECO:0000250,ECO:0000269|PubMed:19609254, ECO:0000269|PubMed:19631370}. |
| 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 CARD8_POLR3H |
| 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 CARD8_POLR3H |
| 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 |
| CARD8 | CARD6, IKBKG, ELAVL1, FLNA, FLNC, CSRP2BP, DMAP1, BRCA2, YEATS2, TAB1, BCOR, CEP192, NFRKB, SRCAP, ZZZ3, ZNF318, LRIF1, MGA, MBIP, SETX, ZNHIT6, ATXN2, SALL2, ACTR6, TADA2A, PEAK1, VPS72, CHD8, WDR74, HDAC3, E2F6, TAB2, DPH1, HOXA5, MAP3K7, HOXD13, NPRL3, C15orf39, USP54, LHX6, PCGF6, CCDC101, LRCH2, TADA3 | POLR3H | POLR3D, RAE1, POLR3B, POLR3C, POLR3E, POLR3A, POLR2H, POLR3G, PCBP2, HSPA5, POLR1D, CDC42EP4, YWHAE, CRCP, POLR2E, POLR1C, HMG20B, GPN3, CDK2, LOC101060521, POLR3F, POLR2F, POLR3GL, ELAVL2 |
| - 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 CARD8_POLR3H |
| 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 CARD8_POLR3H |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CARD8 | C0018099 | Gout | 1 | CTD_human |
| Hgene | CARD8 | C0028797 | Occupational Diseases | 1 | CTD_human |
| Hgene | CARD8 | C0032226 | Pleural Diseases | 1 | CTD_human |
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