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Fusion gene ID: 20042 |
FusionGeneSummary for LPP_RNF168 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LPP_RNF168 | Fusion gene ID: 20042 | Hgene | Tgene | Gene symbol | LPP | RNF168 | Gene ID | 4026 | 165918 |
| Gene name | LIM domain containing preferred translocation partner in lipoma | ring finger protein 168 | |
| Synonyms | - | hRNF168 | |
| Cytomap | 3q27.3-q28 | 3q29 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lipoma-preferred partnerLIM proteinlipoma preferred partner | E3 ubiquitin-protein ligase RNF168RING-type E3 ubiquitin transferase RNF168ring finger protein 168, E3 ubiquitin protein ligase | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q93052 | Q8IYW5 | |
| Ensembl transtripts involved in fusion gene | ENST00000448637, ENST00000312675, ENST00000543006, ENST00000471917, | ENST00000318037, | |
| Fusion gene scores | * DoF score | 29 X 22 X 11=7018 | 2 X 2 X 2=8 |
| # samples | 37 | 2 | |
| ** MAII score | log2(37/7018*10)=-4.24546277188585 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: LPP [Title/Abstract] AND RNF168 [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 |
| Tgene | RNF168 | GO:0006302 | double-strand break repair | 19203578|19203579|22980979 |
| Tgene | RNF168 | GO:0006511 | ubiquitin-dependent protein catabolic process | 22373579 |
| Tgene | RNF168 | GO:0006974 | cellular response to DNA damage stimulus | 19500350|20550933|22373579|22508508|22980979 |
| Tgene | RNF168 | GO:0010212 | response to ionizing radiation | 19203578|19203579 |
| Tgene | RNF168 | GO:0016567 | protein ubiquitination | 22373579 |
| Tgene | RNF168 | GO:0035518 | histone H2A monoubiquitination | 22980979 |
| Tgene | RNF168 | GO:0036351 | histone H2A-K13 ubiquitination | 22980979 |
| Tgene | RNF168 | GO:0036352 | histone H2A-K15 ubiquitination | 22980979 |
| Tgene | RNF168 | GO:0045739 | positive regulation of DNA repair | 19203578|19203579 |
| Tgene | RNF168 | GO:0070534 | protein K63-linked ubiquitination | 22266820 |
| Tgene | RNF168 | GO:0070535 | histone H2A K63-linked ubiquitination | 19203578|19203579|19500350 |
| 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 | BLCA | TCGA-FD-A6TG-01A | LPP | chr3 | 188327632 | + | RNF168 | chr3 | 196202183 | - |
| * 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 | ENST00000448637 | ENST00000318037 | LPP | chr3 | 188327632 | + | RNF168 | chr3 | 196202183 | - |
| Frame-shift | ENST00000312675 | ENST00000318037 | LPP | chr3 | 188327632 | + | RNF168 | chr3 | 196202183 | - |
| Frame-shift | ENST00000543006 | ENST00000318037 | LPP | chr3 | 188327632 | + | RNF168 | chr3 | 196202183 | - |
| 3UTR-3CDS | ENST00000471917 | ENST00000318037 | LPP | chr3 | 188327632 | + | RNF168 | chr3 | 196202183 | - |
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FusionProtFeatures for LPP_RNF168 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LPP | RNF168 |
| May play a structural role at sites of cell adhesion inmaintaining cell shape and motility. In addition to thesestructural functions, it may also be implicated in signalingevents and activation of gene transcription. May be involved insignal transduction from cell adhesion sites to the nucleusallowing successful integration of signals arising from solublefactors and cell-cell adhesion sites. Also suggested to serve as ascaffold protein upon which distinct protein complexes areassembled in the cytoplasm and in the nucleus.{ECO:0000269|PubMed:10637295, ECO:0000269|Ref.2}. | E3 ubiquitin-protein ligase required for accumulation ofrepair proteins to sites of DNA damage. Acts with UBE2N/UBC13 toamplify the RNF8-dependent histone ubiquitination. Recruited tosites of DNA damage at double-strand breaks (DSBs) by binding toubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A ubiquitination, promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrateubiquitinated histones H2A and H2AX at DNA lesions to thethreshold required for recruitment of TP53BP1 and BRCA1. Alsorecruited at DNA interstrand cross-links (ICLs) sites and promotesaccumulation of 'Lys-63'-linked ubiquitination of histones H2A andH2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia(FA) complex, followed by interstrand cross-link repair. H2Aubiquitination also mediates the ATM-dependent transcriptionalsilencing at regions flanking DSBs in cis, a mechanism to avoidcollision between transcription and repair intermediates. Alsoinvolved in class switch recombination in immune system, via itsrole in regulation of DSBs repair. Following DNA damage, promotesthe ubiquitination and degradation of JMJD2A/KDM4A incollaboration with RNF8, leading to unmask H4K20me2 mark andpromote the recruitment of TP53BP1 at DNA damage sites. Not ableto initiate 'Lys-63'-linked ubiquitination in vitro; possibly dueto partial occlusion of the UBE2N/UBC13-binding region. Catalyzesmonoubiquitination of 'Lys-13' and 'Lys-15' of nucleosomal histoneH2A (H2AK13Ub and H2AK15Ub, respectively). {ECO:0000255|HAMAP-Rule:MF_03066, ECO:0000269|PubMed:19203578,ECO:0000269|PubMed:19203579, ECO:0000269|PubMed:20550933,ECO:0000269|PubMed:22373579, ECO:0000269|PubMed:22705371,ECO:0000269|PubMed:22713238, ECO:0000269|PubMed:22742833,ECO:0000269|PubMed:22980979, ECO:0000269|PubMed:23760478}. |
| 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 LPP_RNF168 |
| 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 LPP_RNF168 |
| 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 |
| LPP | ATP5J2, PPP2R1A, ELAVL1, EGLN2, VHL, CLNS1A, PNPO, HNRNPL, CPT1A, HSPA5, AGFG1, ALAD, ARPC3, ARPC4, CALR, DBNL, HSPBP1, IPO11, P3H1, DPP9, EFTUD1, FEN1, FKBP10, RPRD1B, SAE1, SURF2, UFM1, NIF3L1, NPLOC4, OGT, PPME1, PPP2R5D, RANGAP1, RDX, SH3GLB1, TPRKB, UBE3A, ZPR1, SUZ12, RNF2, COPS5, GMPPA, PICALM, NINL, XPO1, CDH1, PTPN21, PPP2R3A, WDYHV1, SERPINB2, PDLIM7, LPXN, CBLC, MRPL38, WASF3, MTNR1A, G3BP1, TES | RNF168 | UBE2G2, HIST2H2AC, TP53BP1, H2AFX, UBE2N, HIST2H2AA3, HIST2H2BE, HERC2, KDM4A, UBC, KIAA0368, UBE2D3, UBE2E1, DDX1, POC1A, TAF15, EWSR1, DCTN1, KIF5B, SMARCA5, UBR5, TRIP12, LAPTM5, RNF11, KDM1A, JMJD1C, BCL10, RNF168, PSMD11, TBP, SRCAP, CCDC174, NUB1, RPRD1B, TACC3, FAM45A, USP7, SUMO2, SUMO3, HIST1H1C, UBE2D1, H2AFZ, HIST1H2AB, FOXM1, WBP2, PALB2, BRCA2, TOP2A, MKI67, SUMO1, UBB, TJP1, PCM1, PDCD11, NCL, HNRNPM, DDX21, RAI14, LIMA1, DHX9, DHX15, DBN1, PABPC4, USP10 |
| - 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 LPP_RNF168 |
| 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 LPP_RNF168 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | LPP | C3495559 | Juvenile arthritis | 1 | CTD_human |
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