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Fusion gene ID: 8115 |
FusionGeneSummary for COQ10A_NABP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COQ10A_NABP2 | Fusion gene ID: 8115 | Hgene | Tgene | Gene symbol | COQ10A | NABP2 | Gene ID | 93058 | 79035 |
| Gene name | coenzyme Q10A | nucleic acid binding protein 2 | |
| Synonyms | - | OBFC2B|SOSS-B1|SSB1|hSSB1 | |
| Cytomap | 12q13.3 | 12q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | coenzyme Q-binding protein COQ10 homolog A, mitochondrialcoenzyme Q10 homolog A | SOSS complex subunit B1LP3587oligonucleotide/oligosaccharide-binding fold containing 2Boligonucleotide/oligosaccharide-binding fold-containing protein 2Bsensor of single-strand DNA complex subunit B1sensor of ssDNA subunit B1single strand DNA-bindin | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q96MF6 | Q9BQ15 | |
| Ensembl transtripts involved in fusion gene | ENST00000308197, ENST00000433805, ENST00000546544, | ENST00000267023, ENST00000380198, ENST00000341463, | |
| Fusion gene scores | * DoF score | 2 X 1 X 3=6 | 3 X 3 X 3=27 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/6*10)=2.32192809488736 | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: COQ10A [Title/Abstract] AND NABP2 [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 | KIRC | TCGA-AS-3777-01A | COQ10A | chr12 | 56663345 | + | NABP2 | chr12 | 56617368 | + |
| TCGA | LD | LIHC | TCGA-DD-A115-01A | COQ10A | chr12 | 56663345 | + | NABP2 | chr12 | 56617368 | + |
| * 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 |
| 5CDS-intron | ENST00000308197 | ENST00000267023 | COQ10A | chr12 | 56663345 | + | NABP2 | chr12 | 56617368 | + |
| 5CDS-intron | ENST00000308197 | ENST00000380198 | COQ10A | chr12 | 56663345 | + | NABP2 | chr12 | 56617368 | + |
| 5CDS-intron | ENST00000308197 | ENST00000341463 | COQ10A | chr12 | 56663345 | + | NABP2 | chr12 | 56617368 | + |
| 5CDS-intron | ENST00000433805 | ENST00000267023 | COQ10A | chr12 | 56663345 | + | NABP2 | chr12 | 56617368 | + |
| 5CDS-intron | ENST00000433805 | ENST00000380198 | COQ10A | chr12 | 56663345 | + | NABP2 | chr12 | 56617368 | + |
| 5CDS-intron | ENST00000433805 | ENST00000341463 | COQ10A | chr12 | 56663345 | + | NABP2 | chr12 | 56617368 | + |
| 5CDS-intron | ENST00000546544 | ENST00000267023 | COQ10A | chr12 | 56663345 | + | NABP2 | chr12 | 56617368 | + |
| 5CDS-intron | ENST00000546544 | ENST00000380198 | COQ10A | chr12 | 56663345 | + | NABP2 | chr12 | 56617368 | + |
| 5CDS-intron | ENST00000546544 | ENST00000341463 | COQ10A | chr12 | 56663345 | + | NABP2 | chr12 | 56617368 | + |
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FusionProtFeatures for COQ10A_NABP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COQ10A | NABP2 |
| Required for the function of coenzyme Q in therespiratory chain. May serve as a chaperone or may be involved inthe transport of Q6 from its site of synthesis to the catalyticsites of the respiratory complexes (Probable). {ECO:0000305}. | Component of the SOSS complex, a multiprotein complexthat functions downstream of the MRN complex to promote DNA repairand G2/M checkpoint. In the SOSS complex, acts as a sensor ofsingle-stranded DNA that binds to single-stranded DNA, inparticular to polypyrimidines. The SOSS complex associates withDNA lesions and influences diverse endpoints in the cellular DNAdamage response including cell-cycle checkpoint activation,recombinational repair and maintenance of genomic stability.Required for efficient homologous recombination-dependent repairof double-strand breaks (DSBs) and ATM-dependent signalingpathways. {ECO:0000269|PubMed:18449195,ECO:0000269|PubMed:19605351, ECO:0000269|PubMed:19683501}. |
| 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 COQ10A_NABP2 |
| 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 COQ10A_NABP2 |
| 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 |
| COQ10A | PMPCB, PMPCA, ECH1 | NABP2 | INTS1, INTS6, INTS3, INTS5, INIP, MRPL53, SUGP1, PPIF, SARNP, RBMS1, EEF1A1, NDUFA2, NDUFA7, SERPINH1, SSBP1, SOD2, SEPT11, SRPRB, PRCC, TP53, EP300, MYC, SKP1, CUL1, FBXL5, BRCA1, MTCH1, EDRF1, VPS41, VPS4A, LUC7L3, GATAD2A, CENPJ, YIPF5, BUD13, EGFR |
| - 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 COQ10A_NABP2 |
| 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 COQ10A_NABP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COQ10A | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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