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Fusion gene ID: 31507 |
FusionGeneSummary for RNF19A_RRM2B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RNF19A_RRM2B | Fusion gene ID: 31507 | Hgene | Tgene | Gene symbol | RNF19A | RRM2B | Gene ID | 25897 | 50484 |
| Gene name | ring finger protein 19A, RBR E3 ubiquitin protein ligase | ribonucleotide reductase regulatory TP53 inducible subunit M2B | |
| Synonyms | RNF19 | MTDPS8A|MTDPS8B|P53R2 | |
| Cytomap | 8q22.2 | 8q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase RNF19Adouble ring-finger proteinprotein p38 interacting with transcription factor Sp1ring finger protein 19ring finger protein 19A, E3 ubiquitin protein ligasering-IBR-ring domain containing protein Dorfin | ribonucleoside-diphosphate reductase subunit M2 BTP53-inducible ribonucleotide reductase M2 Bp53-inducible ribonucleotide reductase small subunit 2 homologp53-inducible ribonucleotide reductase small subunit 2 short form betap53-inducible ribonucleoti | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9NV58 | Q7LG56 | |
| Ensembl transtripts involved in fusion gene | ENST00000341084, ENST00000519449, ENST00000523255, | ENST00000251810, ENST00000395912, ENST00000519317, ENST00000519962, | |
| Fusion gene scores | * DoF score | 15 X 11 X 8=1320 | 3 X 3 X 3=27 |
| # samples | 19 | 3 | |
| ** MAII score | log2(19/1320*10)=-2.79646660591487 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RNF19A [Title/Abstract] AND RRM2B [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 |
| 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 | PRAD | TCGA-YJ-A8SW-01A | RNF19A | chr8 | 101322095 | - | RRM2B | chr8 | 103231175 | - |
| * 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 |
| 5UTR-3CDS | ENST00000341084 | ENST00000251810 | RNF19A | chr8 | 101322095 | - | RRM2B | chr8 | 103231175 | - |
| 5UTR-3CDS | ENST00000341084 | ENST00000395912 | RNF19A | chr8 | 101322095 | - | RRM2B | chr8 | 103231175 | - |
| 5UTR-intron | ENST00000341084 | ENST00000519317 | RNF19A | chr8 | 101322095 | - | RRM2B | chr8 | 103231175 | - |
| 5UTR-intron | ENST00000341084 | ENST00000519962 | RNF19A | chr8 | 101322095 | - | RRM2B | chr8 | 103231175 | - |
| intron-3CDS | ENST00000519449 | ENST00000251810 | RNF19A | chr8 | 101322095 | - | RRM2B | chr8 | 103231175 | - |
| intron-3CDS | ENST00000519449 | ENST00000395912 | RNF19A | chr8 | 101322095 | - | RRM2B | chr8 | 103231175 | - |
| intron-intron | ENST00000519449 | ENST00000519317 | RNF19A | chr8 | 101322095 | - | RRM2B | chr8 | 103231175 | - |
| intron-intron | ENST00000519449 | ENST00000519962 | RNF19A | chr8 | 101322095 | - | RRM2B | chr8 | 103231175 | - |
| intron-3CDS | ENST00000523255 | ENST00000251810 | RNF19A | chr8 | 101322095 | - | RRM2B | chr8 | 103231175 | - |
| intron-3CDS | ENST00000523255 | ENST00000395912 | RNF19A | chr8 | 101322095 | - | RRM2B | chr8 | 103231175 | - |
| intron-intron | ENST00000523255 | ENST00000519317 | RNF19A | chr8 | 101322095 | - | RRM2B | chr8 | 103231175 | - |
| intron-intron | ENST00000523255 | ENST00000519962 | RNF19A | chr8 | 101322095 | - | RRM2B | chr8 | 103231175 | - |
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FusionProtFeatures for RNF19A_RRM2B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RNF19A | RRM2B |
| E3 ubiquitin-protein ligase which accepts ubiquitin fromE2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form ofa thioester and then directly transfers the ubiquitin to targetedsubstrates, such as SNCAIP or CASR. Specifically ubiquitinatespathogenic SOD1 variants, which leads to their proteasomaldegradation and to neuronal protection.{ECO:0000269|PubMed:11237715, ECO:0000269|PubMed:12145308,ECO:0000269|PubMed:12750386, ECO:0000269|PubMed:15456787,ECO:0000269|PubMed:16513638}. |
| 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 RNF19A_RRM2B |
| 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 RNF19A_RRM2B |
| 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 |
| RNF19A | UBE2L3, UBE2L6, SOD1, CASR, VCP, SNCAIP, NUDT21, ILK, RPS6KA5, MAP3K7, C11orf58, ZAK | RRM2B | RRM1, TP53, MDM2, ATM, AICDA, ORC4, RRM2B, RRM2, INPPL1, TMOD2, SRPK2, MCM2, ZNF131, FZR1, TPM2, SPAG9 |
| - 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 RNF19A_RRM2B |
| 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 |
| Tgene | RRM2B | Q7LG56 | DB00242 | Cladribine | Ribonucleoside-diphosphate reductase subunit M2 B | small molecule | approved|investigational |
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RelatedDiseases for RNF19A_RRM2B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RRM2B | C2749861 | MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) | 3 | ORPHANET;UNIPROT |
| Tgene | RRM2B | C0162670 | Mitochondrial Myopathies | 2 | CTD_human |
| Tgene | RRM2B | C0001125 | Acidosis, Lactic | 1 | CTD_human;HPO |
| Tgene | RRM2B | C0022658 | Kidney Diseases | 1 | CTD_human |
| Tgene | RRM2B | C0026827 | Muscle hypotonia | 1 | CTD_human;HPO |
| Tgene | RRM2B | C0872218 | MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME | 1 | CTD_human;ORPHANET |
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