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Fusion gene ID: 32029 |
FusionGeneSummary for RPRD1B_ANKRD17 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RPRD1B_ANKRD17 | Fusion gene ID: 32029 | Hgene | Tgene | Gene symbol | RPRD1B | ANKRD17 | Gene ID | 58490 | 26057 |
| Gene name | regulation of nuclear pre-mRNA domain containing 1B | ankyrin repeat domain 17 | |
| Synonyms | C20orf77|CREPT|K-H|Kub5-Hera|NET60|dJ1057B20.2 | GTAR|MASK2|NY-BR-16 | |
| Cytomap | 20q11.23 | 4q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | regulation of nuclear pre-mRNA domain-containing protein 1BKu70-binding protein 5-Heracell-cycle related and expression-elevated protein in tumor | ankyrin repeat domain-containing protein 17gene trap ankyrin repeat proteinserologically defined breast cancer antigen NY-BR-16 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9NQG5 | O75179 | |
| Ensembl transtripts involved in fusion gene | ENST00000373433, ENST00000471511, | ENST00000358602, ENST00000509867, ENST00000330838, ENST00000514252, | |
| Fusion gene scores | * DoF score | 6 X 3 X 4=72 | 8 X 14 X 3=336 |
| # samples | 6 | 18 | |
| ** MAII score | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(18/336*10)=-0.900464326449086 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RPRD1B [Title/Abstract] AND ANKRD17 [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 | RPRD1B | GO:0008284 | positive regulation of cell proliferation | 22264791 |
| Hgene | RPRD1B | GO:0010564 | regulation of cell cycle process | 22264791 |
| Hgene | RPRD1B | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22264791 |
| Tgene | ANKRD17 | GO:0042742 | defense response to bacterium | 23711367 |
| Tgene | ANKRD17 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 22328336 |
| Tgene | ANKRD17 | GO:0045087 | innate immune response | 23711367 |
| Tgene | ANKRD17 | GO:1900245 | positive regulation of MDA-5 signaling pathway | 22328336 |
| Tgene | ANKRD17 | GO:1900246 | positive regulation of RIG-I signaling pathway | 22328336 |
| 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 | BRCA | TCGA-C8-A1HN-01A | RPRD1B | chr20 | 36694658 | + | ANKRD17 | chr4 | 73964237 | - |
| * 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 |
| Frame-shift | ENST00000373433 | ENST00000358602 | RPRD1B | chr20 | 36694658 | + | ANKRD17 | chr4 | 73964237 | - |
| Frame-shift | ENST00000373433 | ENST00000509867 | RPRD1B | chr20 | 36694658 | + | ANKRD17 | chr4 | 73964237 | - |
| Frame-shift | ENST00000373433 | ENST00000330838 | RPRD1B | chr20 | 36694658 | + | ANKRD17 | chr4 | 73964237 | - |
| 5CDS-intron | ENST00000373433 | ENST00000514252 | RPRD1B | chr20 | 36694658 | + | ANKRD17 | chr4 | 73964237 | - |
| intron-3CDS | ENST00000471511 | ENST00000358602 | RPRD1B | chr20 | 36694658 | + | ANKRD17 | chr4 | 73964237 | - |
| intron-3CDS | ENST00000471511 | ENST00000509867 | RPRD1B | chr20 | 36694658 | + | ANKRD17 | chr4 | 73964237 | - |
| intron-3CDS | ENST00000471511 | ENST00000330838 | RPRD1B | chr20 | 36694658 | + | ANKRD17 | chr4 | 73964237 | - |
| intron-intron | ENST00000471511 | ENST00000514252 | RPRD1B | chr20 | 36694658 | + | ANKRD17 | chr4 | 73964237 | - |
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FusionProtFeatures for RPRD1B_ANKRD17 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RPRD1B | ANKRD17 |
| Interacts with phosphorylated C-terminal heptapeptiderepeat domain (CTD) of the largest RNA polymerase II subunitPOLR2A, and participates in dephosphorylation of the CTD by RPAP2.Transcriptional regulator which enhances expression of CCND1.Promotes binding of RNA polymerase II to the CCDN1 promoter and tothe termination region before the poly-A site but decreases itsbinding after the poly-A site. Prevents RNA polymerase II fromreading through the 3' end termination site and may allow it to berecruited back to the promoter through promotion of the formationof a chromatin loop. Also enhances the transcription of a numberof other cell cycle-related genes including CDK2, CDK4, CDK6 andcyclin-E but not CDKN1A, CDKN1B or cyclin-A. Promotes cellproliferation. {ECO:0000269|PubMed:22231121,ECO:0000269|PubMed:22264791, ECO:0000269|PubMed:24399136,ECO:0000269|PubMed:24997600}. |
| 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 RPRD1B_ANKRD17 |
| 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 RPRD1B_ANKRD17 |
| 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 |
| RPRD1B | TUBGCP4, TERF2, BRCA1, AARSD1, ARPC4, BAG1, FUBP1, GRPEL1, LPP, NIF3L1, NPLOC4, OGT, OSGEP, PFDN5, PPP1R12A, RANGAP1, RPA1, ACTR2, ACTR3, ALAD, CALU, DPP9, DUS3L, EFTUD1, PPME1, PPP1R7, SURF2, TES, TOM1L1, ZPR1, SAE1, STAT5B, TP53RK, TTLL12, RPA3, RPA2, WWOX, HUWE1, ABCE1, SLC25A41, POLR2E, POLR2G, CTDP1, RPAP2, POLR2A, POLR2M, RPRD1A, POLR2D, RPRD2, RECQL5, POLR2B, POLR2J, SUPT6H, POLR2I, POLR2C, GPN3, POLR2L, POLR2F, ACTL6A, ATP6V1B2, KPNB1, SRM, EWSR1, NEFM, RB1, SUPT5H, RNF168, CEP170P1, LMO2, STRAP, USP47, SNRNP27, ASB6, KLHL20, FGB, GPN1, TRIM25, URI1 | ANKRD17 | BAP1, APC, ITSN2, SIRT7, KIAA0368, ITGA4, ADH6, MDM2, AURKB, CDKN1A, HOXC4, MAGEA1, ZC3H3, FOSL2, SFRP4, LHX9, RBM23, MSH6, NTRK1, FGFR1OP, CAPN1, RPL10, CREB1, FOS, AKAP17A, FGF3, FGF8, STX11, TRIM41, TCEANC2, TGIF2LY, ZNF263, IRF9, CDX1, SIX2, ZNF414, TRMT2A, HOXD4 |
| - 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 RPRD1B_ANKRD17 |
| 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 RPRD1B_ANKRD17 |
| 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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