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Fusion gene ID: 25084 |
FusionGeneSummary for NUDT16L1_FAHD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NUDT16L1_FAHD1 | Fusion gene ID: 25084 | Hgene | Tgene | Gene symbol | NUDT16L1 | FAHD1 | Gene ID | 84309 | 81889 |
| Gene name | nudix hydrolase 16 like 1 | fumarylacetoacetate hydrolase domain containing 1 | |
| Synonyms | SDOS | C16orf36|YISKL | |
| Cytomap | 16p13.3 | 16p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tudor-interacting repair regulator proteinNUDT16-like protein 1TIRRnudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1protein syndesmossyndesmos | acylpyruvase FAHD1, mitochondrialFAH domain-containing protein 1OAA decarboxylaseYISK like/RJD15acylpyruvate hydrolasefumarylacetoacetate hydrolase domain-containing protein 1oxaloacetate decarboxylaseyisK-like protein | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q9BRJ7 | Q6P587 | |
| Ensembl transtripts involved in fusion gene | ENST00000304301, ENST00000586252, ENST00000586536, ENST00000405142, | ENST00000382668, ENST00000382666, ENST00000427358, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 2 X 3=18 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: NUDT16L1 [Title/Abstract] AND FAHD1 [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 | NUDT16L1 | GO:2001033 | negative regulation of double-strand break repair via nonhomologous end joining | 28241136 |
| 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 | GBM | TCGA-06-5856-01A | NUDT16L1 | chr16 | 4744239 | + | FAHD1 | chr16 | 1888017 | + |
| * 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 | ENST00000304301 | ENST00000382668 | NUDT16L1 | chr16 | 4744239 | + | FAHD1 | chr16 | 1888017 | + |
| 5CDS-intron | ENST00000304301 | ENST00000382666 | NUDT16L1 | chr16 | 4744239 | + | FAHD1 | chr16 | 1888017 | + |
| 5CDS-intron | ENST00000304301 | ENST00000427358 | NUDT16L1 | chr16 | 4744239 | + | FAHD1 | chr16 | 1888017 | + |
| 5CDS-intron | ENST00000586252 | ENST00000382668 | NUDT16L1 | chr16 | 4744239 | + | FAHD1 | chr16 | 1888017 | + |
| 5CDS-intron | ENST00000586252 | ENST00000382666 | NUDT16L1 | chr16 | 4744239 | + | FAHD1 | chr16 | 1888017 | + |
| 5CDS-intron | ENST00000586252 | ENST00000427358 | NUDT16L1 | chr16 | 4744239 | + | FAHD1 | chr16 | 1888017 | + |
| 5CDS-intron | ENST00000586536 | ENST00000382668 | NUDT16L1 | chr16 | 4744239 | + | FAHD1 | chr16 | 1888017 | + |
| 5CDS-intron | ENST00000586536 | ENST00000382666 | NUDT16L1 | chr16 | 4744239 | + | FAHD1 | chr16 | 1888017 | + |
| 5CDS-intron | ENST00000586536 | ENST00000427358 | NUDT16L1 | chr16 | 4744239 | + | FAHD1 | chr16 | 1888017 | + |
| 5CDS-intron | ENST00000405142 | ENST00000382668 | NUDT16L1 | chr16 | 4744239 | + | FAHD1 | chr16 | 1888017 | + |
| 5CDS-intron | ENST00000405142 | ENST00000382666 | NUDT16L1 | chr16 | 4744239 | + | FAHD1 | chr16 | 1888017 | + |
| 5CDS-intron | ENST00000405142 | ENST00000427358 | NUDT16L1 | chr16 | 4744239 | + | FAHD1 | chr16 | 1888017 | + |
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FusionProtFeatures for NUDT16L1_FAHD1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NUDT16L1 | FAHD1 |
| Key regulator of TP53BP1 required to stabilize TP53BP1and regulate its recruitment to chromatin (PubMed:28241136). Inabsence of DNA damage, interacts with the tandem Tudor-like domainof TP53BP1, masking the region that binds histone H4 dimethylatedat 'Lys-20' (H4K20me2), thereby preventing TP53BP1 recruitment tochromatin and maintaining TP53BP1 localization to the nucleus(PubMed:28241136). Following DNA damage, ATM-inducedphosphorylation of TP53BP1 and subsequent recruitment of RIF1leads to dissociate NUDT16L1/TIRR from TP53BP1, unmasking thetandem Tudor-like domain and allowing recruitment of TP53BP1 toDNA double strand breaks (DSBs) (PubMed:28241136). Binds U8 snoRNA(PubMed:18820299). {ECO:0000269|PubMed:18820299,ECO:0000269|PubMed:28241136}. | Probable mitochondrial acylpyruvase which is able tohydrolyze acetylpyruvate and fumarylpyruvate in vitro(PubMed:15551868, PubMed:21878618). Also has oxaloacetatedecarboxylase activity (PubMed:25575590).{ECO:0000269|PubMed:15551868, ECO:0000269|PubMed:21878618,ECO:0000269|PubMed:25575590}. |
| 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 NUDT16L1_FAHD1 |
| 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 NUDT16L1_FAHD1 |
| 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 |
| NUDT16L1 | NEDD4L, CUL3, CUL4B, CUL1, COPS5, CAND1, NEDD8, APP, HECW2, TRAF2, PNMA1, CUL7, RNF2, BMI1, VEGFB, CRYAB, HNRNPH2, MCM2, NUDT16, TP53BP1 | FAHD1 | MME, PAXIP1, PPAP2A, EXOSC4, UBR3, CPT2, PNPT1, CLUH, DHTKD1, FSD1, OR10H3, ABAT, ALDOC, BPNT1, CAB39, CAT, CFL1, DAZAP1, GDA, GOT1, GUSB, LDHA, LDHB, NANS, PCBP1, PIR, SORD, NDUFS6 |
| - 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 NUDT16L1_FAHD1 |
| 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 NUDT16L1_FAHD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | FAHD1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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