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Fusion gene ID: 31735 |
FusionGeneSummary for RPA2_SERPING1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RPA2_SERPING1 | Fusion gene ID: 31735 | Hgene | Tgene | Gene symbol | RPA2 | SERPING1 | Gene ID | 84172 | 710 |
| Gene name | RNA polymerase I subunit B | serpin family G member 1 | |
| Synonyms | RPA135|RPA2|Rpo1-2 | C1IN|C1INH|C1NH|HAE1|HAE2 | |
| Cytomap | 2q14.1 | 11q12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA-directed RNA polymerase I subunit RPA2DNA-directed RNA polymerase I 135 kDa polypeptideDNA-directed RNA polymerase I 135kDa polypeptideRNA polymerase I subunit 2polymerase (RNA) I polypeptide B, 128kDapolymerase (RNA) I subunit B | plasma protease C1 inhibitorC1 esterase inhibitorC1-inhibiting factorcomplement component 1 inhibitorserine/cysteine proteinase inhibitor clade G member 1serpin G1serpin peptidase inhibitor clade G member 1serpin peptidase inhibitor, clade G (C1 in | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P15927 | P05155 | |
| Ensembl transtripts involved in fusion gene | ENST00000373912, ENST00000373909, ENST00000313433, | ENST00000278407, ENST00000340687, ENST00000378323, ENST00000378324, ENST00000403558, ENST00000531605, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 6 X 6 X 2=72 |
| # samples | 2 | 7 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(7/72*10)=-0.0406419844973459 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RPA2 [Title/Abstract] AND SERPING1 [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 |
| Tgene | SERPING1 | GO:0001869 | negative regulation of complement activation, lectin pathway | 10946292 |
| 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 |
| ChiTaRS3.1 | CA309301 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| * 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 |
| intron-3CDS | ENST00000373912 | ENST00000278407 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000373912 | ENST00000340687 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000373912 | ENST00000378323 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000373912 | ENST00000378324 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000373912 | ENST00000403558 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-intron | ENST00000373912 | ENST00000531605 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000373909 | ENST00000278407 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000373909 | ENST00000340687 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000373909 | ENST00000378323 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000373909 | ENST00000378324 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000373909 | ENST00000403558 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-intron | ENST00000373909 | ENST00000531605 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000313433 | ENST00000278407 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000313433 | ENST00000340687 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000313433 | ENST00000378323 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000313433 | ENST00000378324 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-3CDS | ENST00000313433 | ENST00000403558 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
| intron-intron | ENST00000313433 | ENST00000531605 | RPA2 | chr1 | 28218257 | + | SERPING1 | chr11 | 57374011 | - |
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FusionProtFeatures for RPA2_SERPING1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RPA2 | SERPING1 |
| As part of the heterotrimeric replication protein Acomplex (RPA/RP-A), binds and stabilizes single-stranded DNAintermediates, that form during DNA replication or upon DNAstress. It prevents their reannealing and in parallel, recruitsand activates different proteins and complexes involved in DNAmetabolism. Thereby, it plays an essential role both in DNAreplication and the cellular response to DNA damage. In thecellular response to DNA damage, the RPA complex controls DNArepair and DNA damage checkpoint activation. Through recruitmentof ATRIP activates the ATR kinase a master regulator of the DNAdamage response. It is required for the recruitment of the DNAdouble-strand break repair factors RAD51 and RAD52 to chromatin inresponse to DNA damage. Also recruits to sites of DNA damageproteins like XPA and XPG that are involved in nucleotide excisionrepair and is required for this mechanism of DNA repair. Playsalso a role in base excision repair (BER) probably throughinteraction with UNG. Also recruits SMARCAL1/HARP, which isinvolved in replication fork restart, to sites of DNA damage. Mayalso play a role in telomere maintenance.{ECO:0000269|PubMed:15205463, ECO:0000269|PubMed:17765923,ECO:0000269|PubMed:17959650, ECO:0000269|PubMed:19116208,ECO:0000269|PubMed:20154705, ECO:0000269|PubMed:21504906,ECO:0000269|PubMed:2406247, ECO:0000269|PubMed:24332808,ECO:0000269|PubMed:7697716, ECO:0000269|PubMed:7700386,ECO:0000269|PubMed:8702565, ECO:0000269|PubMed:9430682,ECO:0000269|PubMed:9765279}. |
| 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 RPA2_SERPING1 |
| 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 RPA2_SERPING1 |
| 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 |
| - 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 RPA2_SERPING1 |
| 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 RPA2_SERPING1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SERPING1 | C2717906 | Hereditary Angioedema Type I | 10 | ORPHANET;UNIPROT |
| Tgene | SERPING1 | C0019243 | Angioedemas, Hereditary | 6 | CTD_human |
| Tgene | SERPING1 | C2717905 | Hereditary Angioedema Types I and II | 3 | CTD_human |
| Tgene | SERPING1 | C2931758 | Acquired angioedema | 2 | CTD_human |
| Tgene | SERPING1 | C0021400 | Influenza | 1 | CTD_human |
| Tgene | SERPING1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Tgene | SERPING1 | C0024143 | Lupus Nephritis | 1 | CTD_human |
| Tgene | SERPING1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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