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Fusion gene ID: 10168 |
FusionGeneSummary for DNA2_DNA2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DNA2_DNA2 | Fusion gene ID: 10168 | Hgene | Tgene | Gene symbol | DNA2 | DNA2 | Gene ID | 1763 | 1763 |
| Gene name | DNA replication helicase/nuclease 2 | DNA replication helicase/nuclease 2 | |
| Synonyms | DNA2L|hDNA2 | DNA2L|hDNA2 | |
| Cytomap | 10q21.3 | 10q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA replication ATP-dependent helicase/nuclease DNA2DNA replication ATP-dependent helicase-like homologDNA replication helicase 2 homologDNA2 DNA replication helicase 2-likeDNA2-like helicase | DNA replication ATP-dependent helicase/nuclease DNA2DNA replication ATP-dependent helicase-like homologDNA replication helicase 2 homologDNA2 DNA replication helicase 2-likeDNA2-like helicase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P51530 | P51530 | |
| Ensembl transtripts involved in fusion gene | ENST00000399180, ENST00000399179, ENST00000358410, | ENST00000399180, ENST00000399179, ENST00000358410, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
| # samples | 1 | 1 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: DNA2 [Title/Abstract] AND DNA2 [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 | DNA2 | GO:0000729 | DNA double-strand break processing | 21325134 |
| Hgene | DNA2 | GO:0006264 | mitochondrial DNA replication | 18995831|19487465 |
| Hgene | DNA2 | GO:0006284 | base-excision repair | 18995831 |
| Hgene | DNA2 | GO:0033567 | DNA replication, Okazaki fragment processing | 22570407 |
| Hgene | DNA2 | GO:0043137 | DNA replication, removal of RNA primer | 18995831 |
| Hgene | DNA2 | GO:0043504 | mitochondrial DNA repair | 19487465 |
| Hgene | DNA2 | GO:0045740 | positive regulation of DNA replication | 18995831 |
| Tgene | DNA2 | GO:0000729 | DNA double-strand break processing | 21325134 |
| Tgene | DNA2 | GO:0006264 | mitochondrial DNA replication | 18995831|19487465 |
| Tgene | DNA2 | GO:0006284 | base-excision repair | 18995831 |
| Tgene | DNA2 | GO:0033567 | DNA replication, Okazaki fragment processing | 22570407 |
| Tgene | DNA2 | GO:0043137 | DNA replication, removal of RNA primer | 18995831 |
| Tgene | DNA2 | GO:0043504 | mitochondrial DNA repair | 19487465 |
| Tgene | DNA2 | GO:0045740 | positive regulation of DNA replication | 18995831 |
| 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 |
| ChiTaRS3.1 | AW378978 | DNA2 | chr10 | 70229922 | + | DNA2 | chr10 | 70196768 | + |
| * 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 | ENST00000399180 | ENST00000399180 | DNA2 | chr10 | 70229922 | + | DNA2 | chr10 | 70196768 | + |
| intron-intron | ENST00000399180 | ENST00000399179 | DNA2 | chr10 | 70229922 | + | DNA2 | chr10 | 70196768 | + |
| intron-intron | ENST00000399180 | ENST00000358410 | DNA2 | chr10 | 70229922 | + | DNA2 | chr10 | 70196768 | + |
| intron-intron | ENST00000399179 | ENST00000399180 | DNA2 | chr10 | 70229922 | + | DNA2 | chr10 | 70196768 | + |
| intron-intron | ENST00000399179 | ENST00000399179 | DNA2 | chr10 | 70229922 | + | DNA2 | chr10 | 70196768 | + |
| intron-intron | ENST00000399179 | ENST00000358410 | DNA2 | chr10 | 70229922 | + | DNA2 | chr10 | 70196768 | + |
| intron-intron | ENST00000358410 | ENST00000399180 | DNA2 | chr10 | 70229922 | + | DNA2 | chr10 | 70196768 | + |
| intron-intron | ENST00000358410 | ENST00000399179 | DNA2 | chr10 | 70229922 | + | DNA2 | chr10 | 70196768 | + |
| intron-intron | ENST00000358410 | ENST00000358410 | DNA2 | chr10 | 70229922 | + | DNA2 | chr10 | 70196768 | + |
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FusionProtFeatures for DNA2_DNA2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DNA2 | DNA2 |
| Key enzyme involved in DNA replication and DNA repair innucleus and mitochondrion. Involved in Okazaki fragmentsprocessing by cleaving long flaps that escape FEN1: flaps that arelonger than 27 nucleotides are coated by replication protein Acomplex (RPA), leading to recruit DNA2 which cleaves the flapuntil it is too short to bind RPA and becomes a substrate forFEN1. Also involved in 5'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates thecleavage of 5'-ssDNA, while the 3'-ssDNA cleavage is prevented bythe presence of RPA. Also involved in DNA replication checkpointindependently of Okazaki fragments processing. Possesses differentenzymatic activities, such as single-stranded DNA (ssDNA)-dependent ATPase, 5'-3' helicase and endonuclease activities.While the ATPase and endonuclease activities are well-defined andplay a key role in Okazaki fragments processing and DSB repair,the 5'-3' DNA helicase activity is subject to debate. According tovarious reports, the helicase activity is weak and its functionremains largely unclear. Helicase activity may promote the motionof DNA2 on the flap, helping the nuclease function.{ECO:0000269|PubMed:16595799, ECO:0000269|PubMed:16595800,ECO:0000269|PubMed:18995831, ECO:0000269|PubMed:19487465,ECO:0000269|PubMed:21325134, ECO:0000269|PubMed:21572043,ECO:0000269|PubMed:22570407, ECO:0000269|PubMed:22570476}. | Key enzyme involved in DNA replication and DNA repair innucleus and mitochondrion. Involved in Okazaki fragmentsprocessing by cleaving long flaps that escape FEN1: flaps that arelonger than 27 nucleotides are coated by replication protein Acomplex (RPA), leading to recruit DNA2 which cleaves the flapuntil it is too short to bind RPA and becomes a substrate forFEN1. Also involved in 5'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates thecleavage of 5'-ssDNA, while the 3'-ssDNA cleavage is prevented bythe presence of RPA. Also involved in DNA replication checkpointindependently of Okazaki fragments processing. Possesses differentenzymatic activities, such as single-stranded DNA (ssDNA)-dependent ATPase, 5'-3' helicase and endonuclease activities.While the ATPase and endonuclease activities are well-defined andplay a key role in Okazaki fragments processing and DSB repair,the 5'-3' DNA helicase activity is subject to debate. According tovarious reports, the helicase activity is weak and its functionremains largely unclear. Helicase activity may promote the motionof DNA2 on the flap, helping the nuclease function.{ECO:0000269|PubMed:16595799, ECO:0000269|PubMed:16595800,ECO:0000269|PubMed:18995831, ECO:0000269|PubMed:19487465,ECO:0000269|PubMed:21325134, ECO:0000269|PubMed:21572043,ECO:0000269|PubMed:22570407, ECO:0000269|PubMed:22570476}. |
| 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 DNA2_DNA2 |
| 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 DNA2_DNA2 |
| 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 |
| - 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 DNA2_DNA2 |
| 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 DNA2_DNA2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DNA2 | C3554599 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 | 1 | ORPHANET;UNIPROT |
| Tgene | DNA2 | C3554599 | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 | 1 | ORPHANET;UNIPROT |
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