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Fusion gene ID: 31609 |
FusionGeneSummary for RNF8_HIST1H2AC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RNF8_HIST1H2AC | Fusion gene ID: 31609 | Hgene | Tgene | Gene symbol | RNF8 | HIST1H2AC | Gene ID | 9025 | 8334 |
| Gene name | ring finger protein 8 | histone cluster 1 H2A family member c | |
| Synonyms | hRNF8 | H2A/l|H2AFL|dJ221C16.4 | |
| Cytomap | 6p21.2 | 6p22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase RNF8C3HC4-type zinc finger proteinRING-type E3 ubiquitin transferase RNF8UBC13/UEV-interacting ring finger proteinring finger protein (C3HC4 type) 8ring finger protein 8, E3 ubiquitin protein ligase | histone H2A type 1-CH2A histone family, member Lhistone 1, H2achistone H2A/lhistone H2AChistone cluster 1, H2ac | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O76064 | Q93077 | |
| Ensembl transtripts involved in fusion gene | ENST00000373479, ENST00000469731, ENST00000394443, ENST00000479516, | ENST00000377791, ENST00000602637, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 10 X 4 X 5=200 |
| # samples | 1 | 10 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(10/200*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RNF8 [Title/Abstract] AND HIST1H2AC [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 | RNF8 | GO:0006302 | double-strand break repair | 18001824|18001825|22980979 |
| Hgene | RNF8 | GO:0006511 | ubiquitin-dependent protein catabolic process | 22266820|22373579 |
| Hgene | RNF8 | GO:0006974 | cellular response to DNA damage stimulus | 20550933|21911360|22266820|22373579|22980979 |
| Hgene | RNF8 | GO:0010212 | response to ionizing radiation | 18001824|18001825 |
| Hgene | RNF8 | GO:0033522 | histone H2A ubiquitination | 18001824|18001825 |
| Hgene | RNF8 | GO:0045739 | positive regulation of DNA repair | 18001824|18001825 |
| Hgene | RNF8 | GO:0051865 | protein autoubiquitination | 22266820 |
| Hgene | RNF8 | GO:0070534 | protein K63-linked ubiquitination | 21911360 |
| Hgene | RNF8 | GO:0070535 | histone H2A K63-linked ubiquitination | 22980979 |
| Hgene | RNF8 | GO:0070936 | protein K48-linked ubiquitination | 21911360|22266820|22373579 |
| 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 | RV | PAAD | TCGA-XN-A8T5-01A | RNF8 | chr6 | 37328350 | + | HIST1H2AC | chr6 | 26138282 | + |
| * 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 | ENST00000373479 | ENST00000377791 | RNF8 | chr6 | 37328350 | + | HIST1H2AC | chr6 | 26138282 | + |
| 5CDS-3UTR | ENST00000373479 | ENST00000602637 | RNF8 | chr6 | 37328350 | + | HIST1H2AC | chr6 | 26138282 | + |
| 5CDS-intron | ENST00000469731 | ENST00000377791 | RNF8 | chr6 | 37328350 | + | HIST1H2AC | chr6 | 26138282 | + |
| 5CDS-3UTR | ENST00000469731 | ENST00000602637 | RNF8 | chr6 | 37328350 | + | HIST1H2AC | chr6 | 26138282 | + |
| 5CDS-intron | ENST00000394443 | ENST00000377791 | RNF8 | chr6 | 37328350 | + | HIST1H2AC | chr6 | 26138282 | + |
| 5CDS-3UTR | ENST00000394443 | ENST00000602637 | RNF8 | chr6 | 37328350 | + | HIST1H2AC | chr6 | 26138282 | + |
| 3UTR-intron | ENST00000479516 | ENST00000377791 | RNF8 | chr6 | 37328350 | + | HIST1H2AC | chr6 | 26138282 | + |
| 3UTR-3UTR | ENST00000479516 | ENST00000602637 | RNF8 | chr6 | 37328350 | + | HIST1H2AC | chr6 | 26138282 | + |
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FusionProtFeatures for RNF8_HIST1H2AC |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RNF8 | HIST1H2AC |
| E3 ubiquitin-protein ligase that plays a key role in DNAdamage signaling via 2 distinct roles: by mediating the 'Lys-63'-linked ubiquitination of histones H2A and H2AX and promoting therecruitment of DNA repair proteins at double-strand breaks (DSBs)sites, and by catalyzing 'Lys-48'-linked ubiquitination to removetarget proteins from DNA damage sites. Following DNA DSBs, it isrecruited to the sites of damage by ATM-phosphorylated MDC1 andcatalyzes the 'Lys-63'-linked ubiquitination of histones H2A andH2AX, thereby promoting the formation of TP53BP1 and BRCA1ionizing radiation-induced foci (IRIF). Also controls therecruitment of UIMC1-BRCC3 (RAP80-BRCC36) and PAXIP1/PTIP to DNAdamage sites. Also recruited at DNA interstrand cross-links (ICLs)sites and catalyzes 'Lys-63'-linked ubiquitination of histones H2Aand H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconianemia (FA) complex, followed by interstrand cross-link repair.H2A ubiquitination also mediates the ATM-dependent transcriptionalsilencing at regions flanking DSBs in cis, a mechanism to avoidcollision between transcription and repair intermediates. Promotesthe formation of 'Lys-63'-linked polyubiquitin chains viainteractions with the specific ubiquitin-conjugating UBE2N/UBC13and ubiquitinates non-histone substrates such as PCNA. Substratesthat are polyubiquitinated at 'Lys-63' are usually not targetedfor degradation. Also catalyzes the formation of 'Lys-48'-linkedpolyubiquitin chains via interaction with the ubiquitin-conjugating UBE2L6/UBCH8, leading to degradation of substrateproteins such as CHEK2, JMJD2A/KDM4A and KU80/XRCC5: it is stillunclear how the preference toward 'Lys-48'- versus 'Lys-63'-linkedubiquitination is regulated but it could be due to RNF8 ability tointeract with specific E2 specific ligases. For instance,interaction with phosphorylated HERC2 promotes the associationbetween RNF8 and UBE2N/UBC13 and favors the specific formation of'Lys-63'-linked ubiquitin chains. Promotes non-homologous endjoining (NHEJ) by promoting the 'Lys-48'-linked ubiquitination anddegradation the of KU80/XRCC5. Following DNA damage, mediates theubiquitination and degradation of JMJD2A/KDM4A in collaborationwith RNF168, leading to unmask H4K20me2 mark and promote therecruitment of TP53BP1 at DNA damage sites (PubMed:11322894,PubMed:14981089, PubMed:17724460, PubMed:18001824,PubMed:18001825, PubMed:18006705, PubMed:18077395,PubMed:18337245, PubMed:18948756, PubMed:19015238,PubMed:19124460, PubMed:19202061, PubMed:19203578,PubMed:19203579, PubMed:20550933, PubMed:21558560,PubMed:21857671, PubMed:21911360, PubMed:22266820,PubMed:22373579, PubMed:22531782, PubMed:22705371,PubMed:22865450, PubMed:22980979). Following DNA damage, mediatesthe ubiquitination and degradation of POLD4/p12, a subunit of DNApolymerase delta. In the absence of POLD4, DNA polymerase deltacomplex exhibits higher proofreading activity (PubMed:23233665).In addition to its function in damage signaling, also plays a rolein higher-order chromatin structure by mediating extensivechromatin decondensation. Involved in the activation of ATM bypromoting histone H2B ubiquitination, which indirectly triggershistone H4 'Lys-16' acetylation (H4K16ac), establishing achromatin environment that promotes efficient activation of ATMkinase. Required in the testis, where it plays a role in thereplacement of histones during spermatogenesis. At uncappedtelomeres, promotes the joining of deprotected chromosome ends byinducing H2A ubiquitination and TP53BP1 recruitment, suggestingthat it may enhance cancer development by aggravating telomere-induced genome instability in case of telomeric crisis. Promotesthe assembly of RAD51 at DNA DSBs in the absence of BRCA1 andTP53BP1 Also involved in class switch recombination in immunesystem, via its role in regulation of DSBs repair. May be requiredfor proper exit from mitosis after spindle checkpoint activationand may regulate cytokinesis. May play a role in the regulation ofRXRA-mediated transcriptional activity. Not involved in RXRAubiquitination by UBE2E2 (PubMed:11322894, PubMed:14981089,PubMed:17724460, PubMed:18001824, PubMed:18001825,PubMed:18006705, PubMed:18077395, PubMed:18337245,PubMed:18948756, PubMed:19015238, PubMed:19124460,PubMed:19202061, PubMed:19203578, PubMed:19203579,PubMed:20550933, PubMed:21558560, PubMed:21857671,PubMed:21911360, PubMed:22266820, PubMed:22373579,PubMed:22531782, PubMed:22705371, PubMed:22865450,PubMed:22980979). {ECO:0000269|PubMed:11322894,ECO:0000269|PubMed:14981089, ECO:0000269|PubMed:17724460,ECO:0000269|PubMed:18001824, ECO:0000269|PubMed:18001825,ECO:0000269|PubMed:18006705, ECO:0000269|PubMed:18077395,ECO:0000269|PubMed:18337245, ECO:0000269|PubMed:18948756,ECO:0000269|PubMed:19015238, ECO:0000269|PubMed:19124460,ECO:0000269|PubMed:19202061, ECO:0000269|PubMed:19203578,ECO:0000269|PubMed:19203579, ECO:0000269|PubMed:20550933,ECO:0000269|PubMed:21558560, ECO:0000269|PubMed:21857671,ECO:0000269|PubMed:21911360, ECO:0000269|PubMed:22266820,ECO:0000269|PubMed:22373579, ECO:0000269|PubMed:22531782,ECO:0000269|PubMed:22705371, ECO:0000269|PubMed:22865450,ECO:0000269|PubMed:22980979, ECO:0000269|PubMed:23233665}. | Core component of nucleosome. Nucleosomes wrap andcompact DNA into chromatin, limiting DNA accessibility to thecellular machineries which require DNA as a template. Histonesthereby play a central role in transcription regulation, DNArepair, DNA replication and chromosomal stability. DNAaccessibility is regulated via a complex set of post-translationalmodifications of histones, also called histone code, andnucleosome remodeling. |
| 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 RNF8_HIST1H2AC |
| 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 RNF8_HIST1H2AC |
| 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 |
| RNF8 | CEP44, CCDC85B, RXRA, UBE2E2, UBE2E1, UBE2E3, RNF8, UBE2N, UBE2W, TP53BP1, MGMT, MDC1, HERC2, CHD4, KDM4A, UBE2V2, XRCC5, CHEK2, PCNA, YEATS4, UBE2D1, UBE2D3, RAD50, MRE11A, NBN, HIST2H2AC, H2AFX, HIST2H2BE, RPSA, SEPT7, SEPT8, BLM, MDM2, EXOSC2, JMJD1C, BCL10, TNFRSF1A, TNF, USP16, VCP, MAD1L1, WASL, PNMA2, RBFOX2, SEPT3, HOMEZ, TMEM79, UBC, WRAP53, VRK1, TRIM29, MAGED1, BARD1, POLD4, FOXM1, DYRK2, TRIM25, UBE2S, SUMO2, SUMO3 | HIST1H2AC | AIRE, ITGA4, HEMGN, MCM2, MCM5, MTNR1A |
| - 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 RNF8_HIST1H2AC |
| 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 RNF8_HIST1H2AC |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RNF8 | C0004352 | Autistic Disorder | 1 | CTD_human |
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