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Fusion gene ID: 24325 |
FusionGeneSummary for NHEJ1_CNPPD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NHEJ1_CNPPD1 | Fusion gene ID: 24325 | Hgene | Tgene | Gene symbol | NHEJ1 | CNPPD1 | Gene ID | 79840 | 27013 |
| Gene name | non-homologous end joining factor 1 | cyclin Pas1/PHO80 domain containing 1 | |
| Synonyms | XLF | C2orf24|CGI-57 | |
| Cytomap | 2q35 | 2q35 | |
| Type of gene | protein-coding | protein-coding | |
| Description | non-homologous end-joining factor 1XRCC4-like factornonhomologous end-joining factor 1protein cernunnos | protein CNPPD1cyclin Pas1/PHO80 domain-containing protein 1 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9H9Q4 | Q9BV87 | |
| Ensembl transtripts involved in fusion gene | ENST00000409720, ENST00000356853, ENST00000483627, | ENST00000360507, ENST00000409789, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 2 X 2 X 1=4 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: NHEJ1 [Title/Abstract] AND CNPPD1 [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 | NHEJ1 | GO:0010212 | response to ionizing radiation | 16439205 |
| 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 | BE089557 | NHEJ1 | chr2 | 219940368 | - | CNPPD1 | chr2 | 220037166 | - |
| * 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-3UTR | ENST00000409720 | ENST00000360507 | NHEJ1 | chr2 | 219940368 | - | CNPPD1 | chr2 | 220037166 | - |
| intron-3UTR | ENST00000409720 | ENST00000409789 | NHEJ1 | chr2 | 219940368 | - | CNPPD1 | chr2 | 220037166 | - |
| intron-3UTR | ENST00000356853 | ENST00000360507 | NHEJ1 | chr2 | 219940368 | - | CNPPD1 | chr2 | 220037166 | - |
| intron-3UTR | ENST00000356853 | ENST00000409789 | NHEJ1 | chr2 | 219940368 | - | CNPPD1 | chr2 | 220037166 | - |
| intron-3UTR | ENST00000483627 | ENST00000360507 | NHEJ1 | chr2 | 219940368 | - | CNPPD1 | chr2 | 220037166 | - |
| intron-3UTR | ENST00000483627 | ENST00000409789 | NHEJ1 | chr2 | 219940368 | - | CNPPD1 | chr2 | 220037166 | - |
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FusionProtFeatures for NHEJ1_CNPPD1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NHEJ1 | CNPPD1 |
| DNA repair protein involved in DNA nonhomologous endjoining (NHEJ) required for double-strand break (DSB) repair andV(D)J recombination. May serve as a bridge between XRCC4 and theother NHEJ factors located at DNA ends, or may participate inreconfiguration of the end bound NHEJ factors to allow XRCC4access to the DNA termini. It may act in concert with XRCC6/XRCC5(Ku) to stimulate XRCC4-mediated joining of blunt ends and severaltypes of mismatched ends that are noncomplementary or partiallycomplementary (PubMed:16439204, PubMed:16439205, PubMed:17470781).Binds DNA in a length-dependent manner (PubMed:17317666).{ECO:0000269|PubMed:16439204, ECO:0000269|PubMed:16439205,ECO:0000269|PubMed:17317666, ECO:0000269|PubMed:17470781}. |
| 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 NHEJ1_CNPPD1 |
| 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 NHEJ1_CNPPD1 |
| 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 NHEJ1_CNPPD1 |
| 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 NHEJ1_CNPPD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NHEJ1 | C1969799 | Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CNPPD1 | C0036341 | Schizophrenia | 1 | PSYGENET |
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