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Fusion gene ID: 28787 |
FusionGeneSummary for PRKDC_DEFB103B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PRKDC_DEFB103B | Fusion gene ID: 28787 | Hgene | Tgene | Gene symbol | PRKDC | DEFB103B | Gene ID | 5591 | 55894 |
| Gene name | protein kinase, DNA-activated, catalytic polypeptide | defensin beta 103B | |
| Synonyms | DNA-PKcs|DNAPK|DNPK1|HYRC|HYRC1|IMD26|XRCC7|p350 | BD-3|DEFB-3|DEFB103|DEFB3|HBD-3|HBD3|HBP-3|HBP3 | |
| Cytomap | 8q11.21 | 8p23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA-dependent protein kinase catalytic subunitDNA-PK catalytic subunithyper-radiosensitivity of murine scid mutation, complementing 1p460 | beta-defensin 103beta-defensin 3defensin, beta 103defensin-like protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P78527 | P81534 | |
| Ensembl transtripts involved in fusion gene | ENST00000338368, ENST00000314191, ENST00000523565, | ENST00000318124, | |
| Fusion gene scores | * DoF score | 17 X 20 X 10=3400 | 1 X 1 X 1=1 |
| # samples | 22 | 1 | |
| ** MAII score | log2(22/3400*10)=-3.9499593175004 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PRKDC [Title/Abstract] AND DEFB103B [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | PRKDC | GO:0002218 | activation of innate immune response | 28712728 |
| Hgene | PRKDC | GO:0018105 | peptidyl-serine phosphorylation | 15194694|19303849 |
| Tgene | DEFB103B | GO:0031640 | killing of cells of other organism | 15625724 |
| Tgene | DEFB103B | GO:0050829 | defense response to Gram-negative bacterium | 15625724 |
| Tgene | DEFB103B | GO:0050830 | defense response to Gram-positive bacterium | 15625724 |
| 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 | BRCA | TCGA-C8-A12L-01A | PRKDC | chr8 | 48761715 | - | DEFB103B | chr8 | 7286651 | - |
| * 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 |
| Frame-shift | ENST00000338368 | ENST00000318124 | PRKDC | chr8 | 48761715 | - | DEFB103B | chr8 | 7286651 | - |
| Frame-shift | ENST00000314191 | ENST00000318124 | PRKDC | chr8 | 48761715 | - | DEFB103B | chr8 | 7286651 | - |
| 5UTR-3CDS | ENST00000523565 | ENST00000318124 | PRKDC | chr8 | 48761715 | - | DEFB103B | chr8 | 7286651 | - |
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FusionProtFeatures for PRKDC_DEFB103B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PRKDC | DEFB103B |
| Exhibits antimicrobial activity against Gram-positivebacteria S.aureus and S.pyogenes, Gram-negative bacteriaP.aeruginosa and E.coli and the yeast C.albicans. Killsmultiresistant S.aureus and vancomycin-resistant E.faecium. Nosignificant hemolytic activity was observed.{ECO:0000269|PubMed:11085990}. |
| 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 PRKDC_DEFB103B |
| 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 PRKDC_DEFB103B |
| 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 |
| PRKDC | AR, AP1B1, ATM, BRCA1, CHEK1, E4F1, LIG4, MRE11A, RAD17, RBBP8, TP53, WRN, NCOA6, KAT2A, RPA2, XRCC6, RPA1, ABL1, XRCC5, C1D, IKBKB, CHUK, AKT2, LYN, ILF3, ILF2, EIF2S2, NCF1, NCF2, NCF4, MAPK8, MAPK9, PCNA, CIB1, DCLRE1C, HSF1, CDC5L, HDLBP, RECQL5, MLH1, PMS2, SIRT6, AIRE, TTI1, TELO2, ATG4C, BECN1, ATG101, CAMKK2, CLN3, DDA1, GBAS, PRKAB2, POU2F1, MKNK1, NR1H4, CHD1L, ESR1, PARP1, KAT5, TTI2, SAP25, H2AFX, MGMT, PDX1, AICDA, DHX9, HIST1H1C, XRCC4, YY1, KAT8, MSL3, THRA, THRB, HDAC3, BIRC5, BMI1, HIST1H1A, CHAF1A, PPP2CA, PPP6C, PPP6R1, PPP6R2, PPP6R3, PRKDC, HIST1H3E, H3F3A, MYC, RYK, YWHAQ, USF1, HDAC5, SP1, HOXB7, PIDD1, SMARCAD1, NBN, ATRIP, RAD21, HDGF, CTDP1, CENPA, LMNA, MSH6, TERF1, MDC1, ELAVL1, SIRT7, CSNK2A1, HIST1H3A, HNRNPA1, HNRNPC, ERG, PINK1, CUL3, CUL5, CDK2, COPS5, ARHGEF6, VPRBP, LRRK2, MBP, GRK5, SHC1, AP2M1, UBXN6, XPA, NR3C1, EFTUD2, DDX5, PRPF8, HSPA8, SF3B6, CWC27, THOC6, YBX1, TRA2B, U2AF2, RBM25, DHX38, SRP14, RPS11, SMARCA5, SRSF10, SRP54, PHGDH, RANBP2, PTER, THYN1, TPR, PGR, NOTCH1, IKBKAP, AKT1, PNKP, GSK3A, GSK3B, SRF, JUN, HSP90AA1, HSP90AB1, FN1, VCAM1, GZMB, NOS2, ITGA4, CFTR, CASP3, EIF4EBP1, CHEK2, PAN2, RUVBL1, HDAC11, ADRB2, BAG3, EGFR, IQCB1, FBXO6, CTPS2, GTF2I, PRDX1, C14orf166, RTCB, EHD1, FLII, LRRFIP1, METTL1, NUCB1, RFC2, SNRPA, RPA3, ASB5, LGR4, PHKG2, ILK, ATRX, STAU1, EMD, RELA, RNF144A, CUL7, OBSL1, CCDC8, UBE2I, EED, AUP1, FOXRED2, UBAC2, FAF2, SUMO2, EP300, RASSF1, NTRK1, SCARNA22, NUP85, NUP107, NUP35, CLK1, HSPA5, DNAJC7, POT1, TINF2, DCLRE1B, SKI, CRY1, CRY2, ANAPC2, FZR1, CCNB1, MCM2, SNW1, MEX3C, POU5F1, ALOX15, NFATC2, AHSA1, XRCC1, CDC73, ATOH1, IGF1R, RRM2, MTOR, VHL, CDK4, CDK9, AKTIP, ZNF746, EPHA1, LPAR4, FANCD2, MTNR1B, CYLD, TRIM25, TES, MTF1 | DEFB103B | DEFB103B |
| - 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 PRKDC_DEFB103B |
| 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 |
| Hgene | PRKDC | P78527 | DB00201 | Caffeine | DNA-dependent protein kinase catalytic subunit | small molecule | approved |
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RelatedDiseases for PRKDC_DEFB103B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PRKDC | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Hgene | PRKDC | C4014833 | IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES | 2 | ORPHANET;UNIPROT |
| Hgene | PRKDC | C0001364 | Massive Hepatic Necrosis | 1 | CTD_human |
| Hgene | PRKDC | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Hgene | PRKDC | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | PRKDC | C0019151 | Hepatic Encephalopathy | 1 | CTD_human |
| Hgene | PRKDC | C0024115 | Lung diseases | 1 | CTD_human |
| Hgene | PRKDC | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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