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Fusion gene ID: 42222 |
FusionGeneSummary for XRCC5_TMEM169 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: XRCC5_TMEM169 | Fusion gene ID: 42222 | Hgene | Tgene | Gene symbol | XRCC5 | TMEM169 | Gene ID | 7520 | 92691 |
| Gene name | X-ray repair cross complementing 5 | transmembrane protein 169 | |
| Synonyms | KARP-1|KARP1|KU80|KUB2|Ku86|NFIV | - | |
| Cytomap | 2q35 | 2q35 | |
| Type of gene | protein-coding | protein-coding | |
| Description | X-ray repair cross-complementing protein 586 kDa subunit of Ku antigenATP-dependent DNA helicase 2 subunit 2ATP-dependent DNA helicase II 80 kDa subunitCTC box-binding factor 85 kDa subunitCTC85CTCBFDNA repair protein XRCC5Ku autoantigen, 80kDaKu | transmembrane protein 169 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P13010 | Q96HH4 | |
| Ensembl transtripts involved in fusion gene | ENST00000392133, ENST00000392132, ENST00000471649, | ENST00000454545, ENST00000437356, ENST00000295658, ENST00000406027, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 3 X 1=6 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/6*10)=1.73696559416621 | |
| Context | PubMed: XRCC5 [Title/Abstract] AND TMEM169 [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 | XRCC5 | GO:0002218 | activation of innate immune response | 28712728 |
| Hgene | XRCC5 | GO:0006303 | double-strand break repair via nonhomologous end joining | 26359349 |
| Hgene | XRCC5 | GO:0045860 | positive regulation of protein kinase activity | 22504299 |
| Hgene | XRCC5 | GO:0071480 | cellular response to gamma radiation | 26359349 |
| 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 | LIHC | TCGA-BC-A8YO-01A | XRCC5 | chr2 | 217012999 | + | TMEM169 | chr2 | 216960561 | + |
| * 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-5UTR | ENST00000392133 | ENST00000454545 | XRCC5 | chr2 | 217012999 | + | TMEM169 | chr2 | 216960561 | + |
| 5CDS-5UTR | ENST00000392133 | ENST00000437356 | XRCC5 | chr2 | 217012999 | + | TMEM169 | chr2 | 216960561 | + |
| 5CDS-5UTR | ENST00000392133 | ENST00000295658 | XRCC5 | chr2 | 217012999 | + | TMEM169 | chr2 | 216960561 | + |
| 5CDS-5UTR | ENST00000392133 | ENST00000406027 | XRCC5 | chr2 | 217012999 | + | TMEM169 | chr2 | 216960561 | + |
| 5CDS-5UTR | ENST00000392132 | ENST00000454545 | XRCC5 | chr2 | 217012999 | + | TMEM169 | chr2 | 216960561 | + |
| 5CDS-5UTR | ENST00000392132 | ENST00000437356 | XRCC5 | chr2 | 217012999 | + | TMEM169 | chr2 | 216960561 | + |
| 5CDS-5UTR | ENST00000392132 | ENST00000295658 | XRCC5 | chr2 | 217012999 | + | TMEM169 | chr2 | 216960561 | + |
| 5CDS-5UTR | ENST00000392132 | ENST00000406027 | XRCC5 | chr2 | 217012999 | + | TMEM169 | chr2 | 216960561 | + |
| intron-5UTR | ENST00000471649 | ENST00000454545 | XRCC5 | chr2 | 217012999 | + | TMEM169 | chr2 | 216960561 | + |
| intron-5UTR | ENST00000471649 | ENST00000437356 | XRCC5 | chr2 | 217012999 | + | TMEM169 | chr2 | 216960561 | + |
| intron-5UTR | ENST00000471649 | ENST00000295658 | XRCC5 | chr2 | 217012999 | + | TMEM169 | chr2 | 216960561 | + |
| intron-5UTR | ENST00000471649 | ENST00000406027 | XRCC5 | chr2 | 217012999 | + | TMEM169 | chr2 | 216960561 | + |
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FusionProtFeatures for XRCC5_TMEM169 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| XRCC5 | TMEM169 |
| Single-stranded DNA-dependent ATP-dependent helicase.Has a role in chromosome translocation. The DNA helicase IIcomplex binds preferentially to fork-like ends of double-strandedDNA in a cell cycle-dependent manner. It works in the 3'-5'direction. Binding to DNA may be mediated by XRCC6. Involved inDNA non-homologous end joining (NHEJ) required for double-strandbreak repair and V(D)J recombination. The XRCC5/6 dimer acts asregulatory subunit of the DNA-dependent protein kinase complexDNA-PK by increasing the affinity of the catalytic subunit PRKDCto DNA by 100-fold. The XRCC5/6 dimer is probably involved instabilizing broken DNA ends and bringing them together(PubMed:12145306, PubMed:20383123, PubMed:7957065,PubMed:8621488). The assembly of the DNA-PK complex to DNA ends isrequired for the NHEJ ligation step. In association with NAA15,the XRCC5/6 dimer binds to the osteocalcin promoter and activatesosteocalcin expression (PubMed:20383123). The XRCC5/6 dimerprobably also acts as a 5'-deoxyribose-5-phosphate lyase (5'-dRPlyase), by catalyzing the beta-elimination of the 5' deoxyribose-5-phosphate at an abasic site near double-strand breaks. XRCC5probably acts as the catalytic subunit of 5'-dRP activity, andallows to 'clean' the termini of abasic sites, a class ofnucleotide damage commonly associated with strand breaks, beforesuch broken ends can be joined. The XRCC5/6 dimer together withAPEX1 acts as a negative regulator of transcription(PubMed:8621488). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNPcomplex, a complex that serves as a platform for IRF3phosphorylation and subsequent innate immune response activationthrough the cGAS-STING pathway. {ECO:0000269|PubMed:12145306,ECO:0000269|PubMed:20383123, ECO:0000269|PubMed:28712728,ECO:0000269|PubMed:7957065, ECO:0000269|PubMed:8621488}. |
| 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 XRCC5_TMEM169 |
| 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 XRCC5_TMEM169 |
| 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 |
| XRCC5 | XRCC6, AR, TERF2, TERF2IP, CHEK1, RBM14, NCOA6, KAT2A, VAV1, TYK2, TERT, PRKDC, POU2F1, WRN, POLA1, PCNA, TOP2A, PRIM1, POLR2E, POLR2D, ORC2, ORC1, RFC1, BIN1, APEX1, CD40, HSF1, HDLBP, DHX9, H2AFY, SIRT6, NR1H4, CHD1L, BRCA1, BARD1, ESR1, PARP1, PDX1, MSX2, RUNX2, NAA15, H2AFX, PHF1, XRCC4, LIG4, ILF2, THRA, THRB, BMI1, CHAF1A, HIST1H3E, H3F3A, TERF1, BAZ1A, SMARCA5, CHRAC1, POLE3, MYC, MME, USF1, HDAC5, RBM39, APLF, PSMA3, COIL, POLR2A, LIG3, HOXB7, YY1, VHL, RNF146, SMARCAD1, ATM, ATR, NBN, ORC3, ORC6, ORC4, TCF7L2, HDGF, CENPA, MSH6, HOXC4, MDC1, CEBPA, ARRB1, ARRB2, RAD23A, SIRT7, HNRNPA1, RNF8, HNRNPC, SUPT16H, SSRP1, TMPO, TOP1, DDX17, ERG, ISG15, TONSL, CUL3, CDK2, BAX, KCND3, GRK5, DYNC1H1, TFAP4, PAF1, PTER, YARS, PGR, XRCC5, ECT2, TP53BP1, CSNK2A1, SMURF1, FMNL1, PNKP, FN1, VCAM1, GZMA, CDH1, GZMB, NOS2, ITGA4, DCLRE1C, IGSF8, ICAM1, SOX2, HDAC6, CDC16, TARDBP, C1QBP, CUL2, CSDE1, DNMBP, EIF3J, EIF4B, GANAB, HSPA4, JUP, MSH2, NARS, NCL, PLCB3, PRMT3, RPL24, SAMHD1, SF1, TRMT1, HYOU1, RPA1, RPA2, RPA3, ATRX, ELF3, EHF, HUWE1, PPARG, CUL7, OBSL1, CCDC8, SUZ12, EED, RNF2, EGFR, UBE2I, SUMO2, MAST3, WDR76, RPS6KB2, HSPB1, PHRF1, NTRK1, SCARNA22, EWSR1, SRPK2, CBL, COX6B1, DYNC1I2, ERF, NDST1, IGF2R, LIMS1, MSH5, NFIB, PCDH7, PPM1A, ABCE1, ROCK1, BRPF1, NCOA3, MPDZ, MAP3K6, GOLGA5, SNUPN, SMYD5, WWP1, ZZEF1, RTEL1, LAMTOR1, ASAP3, PEAK1, C17orf49, MITD1, MIB2, CEP128, CRY1, MACROD1, MCM2, NF2, SENP3, TFAP2A, NANOG, UHRF2, NFATC1, NFATC2, AHSA1, RNF126, USP11, DERL1, ZNF746, CDK5RAP1, SPTA1, DLD, DNM1L, HSD17B10, SOD1, VDAC1, TRIM25, EP300, UBE2S, YAP1, MTF1, DDB2, DDB1 | TMEM169 | RHOU |
| - 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 XRCC5_TMEM169 |
| 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 XRCC5_TMEM169 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | XRCC5 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Hgene | XRCC5 | C0678306 | alcohol sensitivity | 1 | PSYGENET |
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