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Fusion gene ID: 3959 |
FusionGeneSummary for BCAS3_POLD4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BCAS3_POLD4 | Fusion gene ID: 3959 | Hgene | Tgene | Gene symbol | BCAS3 | POLD4 | Gene ID | 54828 | 57804 |
| Gene name | BCAS3, microtubule associated cell migration factor | DNA polymerase delta 4, accessory subunit | |
| Synonyms | GAOB1|MAAB | POLDS|p12 | |
| Cytomap | 17q23.2 | 11q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | breast carcinoma-amplified sequence 3BCAS4/BCAS3 fusionRudhirabreast carcinoma amplified sequence 4/3 fusion proteinmetastasis associated antigen of breast cancerprotein Maab1 | DNA polymerase delta subunit 4DNA polymerase delta smallest subunit p12polymerase (DNA) delta 4, accessory subunitpolymerase (DNA-directed), delta 4, accessory subunit | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9H6U6 | Q9HCU8 | |
| Ensembl transtripts involved in fusion gene | ENST00000589222, ENST00000407086, ENST00000390652, ENST00000408905, ENST00000588462, ENST00000585744, ENST00000588874, ENST00000585812, | ENST00000529704, ENST00000312419, ENST00000539074, | |
| Fusion gene scores | * DoF score | 40 X 23 X 15=13800 | 5 X 1 X 3=15 |
| # samples | 47 | 5 | |
| ** MAII score | log2(47/13800*10)=-4.87586369998789 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/15*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: BCAS3 [Title/Abstract] AND POLD4 [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 | BCAS3 | GO:0043085 | positive regulation of catalytic activity | 17505058 |
| Hgene | BCAS3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17505058 |
| Hgene | BCAS3 | GO:0071391 | cellular response to estrogen stimulus | 17505058 |
| 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 | BRCA | TCGA-AN-A0XW-01A | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| * 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-5UTR | ENST00000589222 | ENST00000529704 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000589222 | ENST00000312419 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000589222 | ENST00000539074 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000407086 | ENST00000529704 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000407086 | ENST00000312419 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000407086 | ENST00000539074 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000390652 | ENST00000529704 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000390652 | ENST00000312419 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000390652 | ENST00000539074 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000408905 | ENST00000529704 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000408905 | ENST00000312419 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000408905 | ENST00000539074 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000588462 | ENST00000529704 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000588462 | ENST00000312419 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000588462 | ENST00000539074 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000585744 | ENST00000529704 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000585744 | ENST00000312419 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000585744 | ENST00000539074 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000588874 | ENST00000529704 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000588874 | ENST00000312419 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| 5CDS-5UTR | ENST00000588874 | ENST00000539074 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| intron-5UTR | ENST00000585812 | ENST00000529704 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| intron-5UTR | ENST00000585812 | ENST00000312419 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
| intron-5UTR | ENST00000585812 | ENST00000539074 | BCAS3 | chr17 | 59001861 | + | POLD4 | chr11 | 67120548 | - |
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FusionProtFeatures for BCAS3_POLD4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BCAS3 | POLD4 |
| As a component of the tetrameric DNA polymerase deltacomplex (Pol-delta4), plays a role in high fidelity genomereplication and repair. Within this complex, increases the rate ofDNA synthesis and decreases fidelity by regulating POLD1polymerase and proofreading 3' to 5' exonuclease activity(PubMed:16510448, PubMed:19074196, PubMed:20334433). Pol-delta4participates in Okazaki fragment processing, through both theshort flap pathway, as well as a nick translation system(PubMed:24035200). Under conditions of DNA replication stress,required for the repair of broken replication forks through break-induced replication (BIR), a mechanism that may induce segmentalgenomic duplications of up to 200 kb (PubMed:24310611). Involvedin Pol-delta4 translesion synthesis (TLS) of templates carryingO6-methylguanine or abasic sites (PubMed:19074196). Itsdegradation in response to DNA damage is required for theinhibition of fork progression and cell survival(PubMed:24022480). {ECO:0000269|PubMed:16510448,ECO:0000269|PubMed:19074196, ECO:0000269|PubMed:20334433,ECO:0000269|PubMed:24022480, ECO:0000269|PubMed:24035200,ECO:0000269|PubMed:24310611}. |
| 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 BCAS3_POLD4 |
| 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 BCAS3_POLD4 |
| 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 |
| BCAS3 | CTBP1, CTBP2, CDC23, C16orf70, ZDHHC17, ESR1, PELP1, HIST1H3A, KAT2B, WIPI2, ATM, BAG4, CCND1, FBXW7, KRAS, PALB2, PHB, PTPN1, SMAD4, STK11, TGFB1, TSG101, XRCC3, OFD1, CEP128, FBF1, NPHP1, SCLT1, XPO1, CD14, HDAC1, IRF3, MAGEE1, IL17RA, DOCK5, VWA5A, RAB2B | POLD4 | POLE2, POLE, PCNA, POLD1, POLD3, POLD2, SPRTN, RNF8, DTL |
| - 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 BCAS3_POLD4 |
| 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 BCAS3_POLD4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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