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Fusion gene ID: 40874 |
FusionGeneSummary for UQCC1_SAMHD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UQCC1_SAMHD1 | Fusion gene ID: 40874 | Hgene | Tgene | Gene symbol | UQCC1 | SAMHD1 | Gene ID | 55245 | 25939 |
| Gene name | ubiquinol-cytochrome c reductase complex assembly factor 1 | SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | |
| Synonyms | BFZB|C20orf44|CBP3|UQCC | CHBL2|DCIP|HDDC1|MOP-5|SBBI88 | |
| Cytomap | 20q11.22 | 20q11.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ubiquinol-cytochrome-c reductase complex assembly factor 1bFGF-repressed Zic-binding proteinbasic FGF-repressed Zic-binding proteincytochrome B protein synthesis 3 homologubiquinol-cytochrome c reductase complex chaperone CBP3 homolog | deoxynucleoside triphosphate triphosphohydrolase SAMHD1SAM domain and HD domain 1SAM domain and HD domain-containing protein 1dNTPasedendritic cell-derived IFNG-induced proteinmonocyte protein 5 | |
| Modification date | 20180519 | 20180528 | |
| UniProtAcc | Q9NVA1 | Q9Y3Z3 | |
| Ensembl transtripts involved in fusion gene | ENST00000349714, ENST00000359226, ENST00000374384, ENST00000374380, ENST00000374385, ENST00000374377, ENST00000397556, ENST00000407996, ENST00000540457, ENST00000542501, ENST00000397554, ENST00000491125, | ENST00000262878, ENST00000373694, | |
| Fusion gene scores | * DoF score | 13 X 8 X 10=1040 | 2 X 2 X 2=8 |
| # samples | 13 | 2 | |
| ** MAII score | log2(13/1040*10)=-3 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: UQCC1 [Title/Abstract] AND SAMHD1 [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 | UQCC1 | GO:0034551 | mitochondrial respiratory chain complex III assembly | 24385928 |
| Hgene | UQCC1 | GO:0070131 | positive regulation of mitochondrial translation | 24385928 |
| Tgene | SAMHD1 | GO:0006203 | dGTP catabolic process | 24217394 |
| Tgene | SAMHD1 | GO:0046061 | dATP catabolic process | 24141705 |
| Tgene | SAMHD1 | GO:0051289 | protein homotetramerization | 24217394 |
| 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 | BRCA | TCGA-BH-A0H9-01A | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| * 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 |
| Frame-shift | ENST00000349714 | ENST00000262878 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| 5CDS-5UTR | ENST00000349714 | ENST00000373694 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| Frame-shift | ENST00000359226 | ENST00000262878 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| 5CDS-5UTR | ENST00000359226 | ENST00000373694 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| Frame-shift | ENST00000374384 | ENST00000262878 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| 5CDS-5UTR | ENST00000374384 | ENST00000373694 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| Frame-shift | ENST00000374380 | ENST00000262878 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| 5CDS-5UTR | ENST00000374380 | ENST00000373694 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| Frame-shift | ENST00000374385 | ENST00000262878 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| 5CDS-5UTR | ENST00000374385 | ENST00000373694 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| Frame-shift | ENST00000374377 | ENST00000262878 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| 5CDS-5UTR | ENST00000374377 | ENST00000373694 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| 5UTR-3CDS | ENST00000397556 | ENST00000262878 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| 5UTR-5UTR | ENST00000397556 | ENST00000373694 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| Frame-shift | ENST00000407996 | ENST00000262878 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| 5CDS-5UTR | ENST00000407996 | ENST00000373694 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| intron-3CDS | ENST00000540457 | ENST00000262878 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| intron-5UTR | ENST00000540457 | ENST00000373694 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| Frame-shift | ENST00000542501 | ENST00000262878 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| 5CDS-5UTR | ENST00000542501 | ENST00000373694 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| Frame-shift | ENST00000397554 | ENST00000262878 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| 5CDS-5UTR | ENST00000397554 | ENST00000373694 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| 5UTR-3CDS | ENST00000491125 | ENST00000262878 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
| 5UTR-5UTR | ENST00000491125 | ENST00000373694 | UQCC1 | chr20 | 33981895 | - | SAMHD1 | chr20 | 35575207 | - |
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FusionProtFeatures for UQCC1_SAMHD1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UQCC1 | SAMHD1 |
| Protein that acts both as a host restriction factorinvolved in defense response to virus and as a regulator of DNAend resection at stalled replication forks (PubMed:19525956,PubMed:21613998, PubMed:21720370, PubMed:23602554,PubMed:23601106, PubMed:22056990, PubMed:24336198,PubMed:26294762, PubMed:26431200, PubMed:28229507,PubMed:28834754, PubMed:29670289). Has deoxynucleosidetriphosphate (dNTPase) activity, which is required to restrictinfection by viruses, such as HIV-1: dNTPase activity reducescellular dNTP levels to levels too low for retroviral reversetranscription to occur, blocking early-stage virus replication indendritic and other myeloid cells (PubMed:19525956,PubMed:21613998, PubMed:21720370, PubMed:23602554,PubMed:23601106, PubMed:23364794, PubMed:25038827,PubMed:26101257, PubMed:22056990, PubMed:24336198,PubMed:28229507, PubMed:26294762, PubMed:26431200). Likewise,suppresses LINE-1 retrotransposon activity (PubMed:24035396,PubMed:29610582, PubMed:24217394). Not able to restrict infectionby HIV-2 virus; because restriction activity is counteracted byHIV-2 viral protein Vpx (PubMed:21613998, PubMed:21720370). Inaddition to virus restriction, dNTPase activity acts as aregulator of DNA precursor pools by regulating dNTP pools(PubMed:23858451). Phosphorylation at Thr-592 acts as a switch tocontrol dNTPase-dependent and -independent functions: it inhibitsdNTPase activity and ability to restrict infection by viruses,while it promotes DNA end resection at stalled replication forks(PubMed:23602554, PubMed:23601106, PubMed:29610582,PubMed:29670289). Functions during S phase at stalled DNAreplication forks to promote the resection of gapped or reversedforks: acts by stimulating the exonuclease activity of MRE11,activating the ATR-CHK1 pathway and allowing the forks to restartreplication (PubMed:29670289). Its ability to promote degradationof nascent DNA at stalled replication forks is required to preventinduction of type I interferons, thereby preventing chronicinflammation (PubMed:27477283, PubMed:29670289). Ability topromote DNA end resection at stalled replication forks isindependent of dNTPase activity (PubMed:29670289). Enhancesimmunoglobulin hypermutation in B-lymphocytes by promotingtransversion mutation (By similarity).{ECO:0000250|UniProtKB:Q60710, ECO:0000269|PubMed:19525956,ECO:0000269|PubMed:21613998, ECO:0000269|PubMed:21720370,ECO:0000269|PubMed:22056990, ECO:0000269|PubMed:23364794,ECO:0000269|PubMed:23601106, ECO:0000269|PubMed:23602554,ECO:0000269|PubMed:23858451, ECO:0000269|PubMed:24035396,ECO:0000269|PubMed:24217394, ECO:0000269|PubMed:24336198,ECO:0000269|PubMed:25038827, ECO:0000269|PubMed:26101257,ECO:0000269|PubMed:26294762, ECO:0000269|PubMed:26431200,ECO:0000269|PubMed:27477283, ECO:0000269|PubMed:28229507,ECO:0000269|PubMed:28834754, ECO:0000269|PubMed:29610582,ECO:0000269|PubMed:29670289}. |
| 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 UQCC1_SAMHD1 |
| 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 UQCC1_SAMHD1 |
| 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 |
| UQCC1 | BRCA2, UQCC2, ECHDC2, LRRC46, MRM1, COX20, LPAR1, OXLD1, TRUB2, NDUFA4, SBF1, TM2D2, P3H1, CSNK1E, FADS1, MRPL10, CDH13, YARS2, FECH, CLPP, NDUFA13, CDIPT, SLX1A, C3AR1, CDR2, TRIM25 | SAMHD1 | TIRAP, VPRBP, DDB1, CUL3, CUL5, CUL2, COPS6, APP, BARD1, CD81, KPNB1, FBXO25, EIF4B, GANAB, GART, HSPH1, JUP, PLOD2, PRMT3, RANBP3, RPL24, ATP6V1E1, FAF1, MSH6, NARS, OSBP, SEC23A, TUBG1, XRCC5, XRCC6, SF1, SUPT5H, TRMT1, XPO7, HSF5, CCNA2, CDK2, SKP2, CDK1, RNF2, EGFR, FAM13B, SAMHD1, EEF1A1, ACTB, RBX1, CUL4A, NTRK1, CCNL2, SPICE1, PPP2R1A, PPP2R5E, SMARCD2, STX3, AKAP12, MTCL1, RACGAP1, GPATCH4, KANSL3, ZMAT3, LCOR, SOGA1, RSBN1L, U2AF2, GSK3A, GSK3B, NAA10, TRIM25, KPNA2 |
| - 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 UQCC1_SAMHD1 |
| 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 UQCC1_SAMHD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SAMHD1 | C2749659 | AICARDI-GOUTIERES SYNDROME 5 (disorder) | 3 | CTD_human;UNIPROT |
| Tgene | SAMHD1 | C0024145 | Chilblain lupus 1 | 1 | CTD_human;ORPHANET |
| Tgene | SAMHD1 | C0796126 | AICARDI-GOUTIERES SYNDROME 1 | 1 | CTD_human |
| Tgene | SAMHD1 | C3711385 | Deoxyguanosine Kinase Deficiency | 1 | CTD_human |
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