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Fusion gene ID: 31769 |
FusionGeneSummary for RPL10_POLA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RPL10_POLA1 | Fusion gene ID: 31769 | Hgene | Tgene | Gene symbol | RPL10 | POLA1 | Gene ID | 6134 | 5422 |
| Gene name | ribosomal protein L10 | DNA polymerase alpha 1, catalytic subunit | |
| Synonyms | AUTSX5|DXS648|DXS648E|L10|MRXS35|NOV|QM | NSX|POLA|p180 | |
| Cytomap | Xq28 | Xp22.11-p21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 60S ribosomal protein L10Wilms tumor-related proteinlaminin receptor homologlarge ribosomal subunit protein uL16tumor suppressor QM | DNA polymerase alpha catalytic subunitDNA polymerase alpha catalytic subunit p180polymerase (DNA directed), alpha 1, catalytic subunitpolymerase (DNA) alpha 1, catalytic subunitpolymerase (DNA-directed), alpha (70kD) | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P27635 | P09884 | |
| Ensembl transtripts involved in fusion gene | ENST00000369817, ENST00000479366, ENST00000424325, ENST00000406022, | ENST00000379068, ENST00000379059, ENST00000493342, | |
| Fusion gene scores | * DoF score | 10 X 8 X 2=160 | 4 X 3 X 4=48 |
| # samples | 10 | 4 | |
| ** MAII score | log2(10/160*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RPL10 [Title/Abstract] AND POLA1 [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 | POLA1 | GO:0006269 | DNA replication, synthesis of RNA primer | 2175912 |
| Tgene | POLA1 | GO:0006270 | DNA replication initiation | 2175912 |
| Tgene | POLA1 | GO:0006272 | leading strand elongation | 2175912|7910375 |
| Tgene | POLA1 | GO:0006273 | lagging strand elongation | 2175912|7910375 |
| Tgene | POLA1 | GO:0006281 | DNA repair | 3335506 |
| Tgene | POLA1 | GO:0008283 | cell proliferation | 3359994 |
| 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 | DW421192 | RPL10 | chrX | 153627842 | + | POLA1 | chrX | 24806814 | - |
| * 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 | ENST00000369817 | ENST00000379068 | RPL10 | chrX | 153627842 | + | POLA1 | chrX | 24806814 | - |
| 5CDS-intron | ENST00000369817 | ENST00000379059 | RPL10 | chrX | 153627842 | + | POLA1 | chrX | 24806814 | - |
| 5CDS-intron | ENST00000369817 | ENST00000493342 | RPL10 | chrX | 153627842 | + | POLA1 | chrX | 24806814 | - |
| intron-intron | ENST00000479366 | ENST00000379068 | RPL10 | chrX | 153627842 | + | POLA1 | chrX | 24806814 | - |
| intron-intron | ENST00000479366 | ENST00000379059 | RPL10 | chrX | 153627842 | + | POLA1 | chrX | 24806814 | - |
| intron-intron | ENST00000479366 | ENST00000493342 | RPL10 | chrX | 153627842 | + | POLA1 | chrX | 24806814 | - |
| 5CDS-intron | ENST00000424325 | ENST00000379068 | RPL10 | chrX | 153627842 | + | POLA1 | chrX | 24806814 | - |
| 5CDS-intron | ENST00000424325 | ENST00000379059 | RPL10 | chrX | 153627842 | + | POLA1 | chrX | 24806814 | - |
| 5CDS-intron | ENST00000424325 | ENST00000493342 | RPL10 | chrX | 153627842 | + | POLA1 | chrX | 24806814 | - |
| 5UTR-intron | ENST00000406022 | ENST00000379068 | RPL10 | chrX | 153627842 | + | POLA1 | chrX | 24806814 | - |
| 5UTR-intron | ENST00000406022 | ENST00000379059 | RPL10 | chrX | 153627842 | + | POLA1 | chrX | 24806814 | - |
| 5UTR-intron | ENST00000406022 | ENST00000493342 | RPL10 | chrX | 153627842 | + | POLA1 | chrX | 24806814 | - |
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FusionProtFeatures for RPL10_POLA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RPL10 | POLA1 |
| Component of the large ribosomal subunit(PubMed:26290468). Plays a role in the formation of activelytranslating ribosomes (PubMed:26290468). May play a role in theembryonic brain development (PubMed:25316788).{ECO:0000269|PubMed:25316788, ECO:0000269|PubMed:26290468,ECO:0000305|PubMed:12962325}. | Plays an essential role in the initiation of DNAreplication. During the S phase of the cell cycle, the DNApolymerase alpha complex (composed of a catalytic subunitPOLA1/p180, a regulatory subunit POLA2/p70 and two primasesubunits PRIM1/p49 and PRIM2/p58) is recruited to DNA at thereplicative forks via direct interactions with MCM10 and WDHD1.The primase subunit of the polymerase alpha complex initiates DNAsynthesis by oligomerising short RNA primers on both leading andlagging strands. These primers are initially extended by thepolymerase alpha catalytic subunit and subsequently transferred topolymerase delta and polymerase epsilon for processive synthesison the lagging and leading strand, respectively. The reason thistransfer occurs is because the polymerase alpha has limitedprocessivity and lacks intrinsic 3' exonuclease activity forproofreading error, and therefore is not well suited forreplicating long complexes. In the cytosol, responsible for asubstantial proportion of the physiological concentration ofcytosolic RNA:DNA hybrids, which are necessary to preventspontaneous activation of type I interferon responses(PubMed:27019227). {ECO:0000269|PubMed:27019227,ECO:0000269|PubMed:9518481}. |
| 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 RPL10_POLA1 |
| 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 RPL10_POLA1 |
| 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 RPL10_POLA1 |
| 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 | RPL10 | P27635 | DB11638 | Artenimol | 60S ribosomal protein L10 {ECO:0000305} | small molecule | approved|investigational |
| Tgene | POLA1 | P09884 | DB01073 | Fludarabine | DNA polymerase alpha catalytic subunit | small molecule | approved |
| Tgene | POLA1 | P09884 | DB00242 | Cladribine | DNA polymerase alpha catalytic subunit | small molecule | approved|investigational |
| Tgene | POLA1 | P09884 | DB00631 | Clofarabine | DNA polymerase alpha catalytic subunit | small molecule | approved|investigational |
| Tgene | POLA1 | P09884 | DB01280 | Nelarabine | DNA polymerase alpha catalytic subunit | small molecule | approved|investigational |
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RelatedDiseases for RPL10_POLA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RPL10 | C3275438 | AUTISM, SUSCEPTIBILITY TO, X-LINKED 5 | 2 | UNIPROT |
| Hgene | RPL10 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | RPL10 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | RPL10 | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 1 | CTD_human |
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