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Fusion gene ID: 32686 |
FusionGeneSummary for SBDS_POLE3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SBDS_POLE3 | Fusion gene ID: 32686 | Hgene | Tgene | Gene symbol | SBDS | POLE3 | Gene ID | 51119 | 54107 |
| Gene name | SBDS, ribosome maturation factor | DNA polymerase epsilon 3, accessory subunit | |
| Synonyms | CGI-97|SDS|SWDS | CHARAC17|CHRAC17|YBL1|p17 | |
| Cytomap | 7q11.21 | 9q32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ribosome maturation protein SBDSSBDS, ribosome assembly guanine nucleotide exchange factor | DNA polymerase epsilon subunit 3CHRAC-17DNA polymerase II subunit 3DNA polymerase epsilon p17 subunitDNA polymerase epsilon subunit p17arsenic transactivated proteinasTPchromatin accessibility complex 17 kDa proteinhistone fold protein CHRAC17huC | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9Y3A5 | Q9NRF9 | |
| Ensembl transtripts involved in fusion gene | ENST00000246868, | ENST00000479871, ENST00000374169, ENST00000374171, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
| # samples | 1 | 1 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SBDS [Title/Abstract] AND POLE3 [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 | SBDS | GO:0007052 | mitotic spindle organization | 18324336 |
| Hgene | SBDS | GO:0030595 | leukocyte chemotaxis | 14743349 |
| Hgene | SBDS | GO:0042256 | mature ribosome assembly | 21536732 |
| Tgene | POLE3 | GO:0043966 | histone H3 acetylation | 18838386 |
| 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 | BF772219 | SBDS | chr7 | 66458345 | - | POLE3 | chr9 | 116171172 | - |
| * 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-5UTR | ENST00000246868 | ENST00000479871 | SBDS | chr7 | 66458345 | - | POLE3 | chr9 | 116171172 | - |
| intron-5UTR | ENST00000246868 | ENST00000374169 | SBDS | chr7 | 66458345 | - | POLE3 | chr9 | 116171172 | - |
| intron-5UTR | ENST00000246868 | ENST00000374171 | SBDS | chr7 | 66458345 | - | POLE3 | chr9 | 116171172 | - |
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FusionProtFeatures for SBDS_POLE3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SBDS | POLE3 |
| Required for the assembly of mature ribosomes andribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm,thereby activating ribosomes for translation competence byallowing 80S ribosome assembly and facilitating EIF6 recycling tothe nucleus, where it is required for 60S rRNA processing andnuclear export. Required for normal levels of protein synthesis.May play a role in cellular stress resistance. May play a role incellular response to DNA damage. May play a role in cellproliferation. {ECO:0000269|PubMed:17643419,ECO:0000269|PubMed:19602484, ECO:0000269|PubMed:19759903,ECO:0000269|PubMed:21536732}. | Forms a complex with DNA polymerase epsilon subunitCHRAC1 and binds naked DNA, which is then incorporated intochromatin, aided by the nucleosome-remodeling activity ofISWI/SNF2H and ACF1. |
| 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 SBDS_POLE3 |
| 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 SBDS_POLE3 |
| 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 SBDS_POLE3 |
| 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 | POLE3 | Q9NRF9 | DB00242 | Cladribine | DNA polymerase epsilon subunit 3 | small molecule | approved|investigational |
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RelatedDiseases for SBDS_POLE3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SBDS | C0272170 | Shwachman syndrome | 3 | CTD_human;ORPHANET;UNIPROT |
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