|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 27950 |
FusionGeneSummary for POLR1A_REEP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: POLR1A_REEP1 | Fusion gene ID: 27950 | Hgene | Tgene | Gene symbol | POLR1A | REEP1 | Gene ID | 25885 | 65055 |
| Gene name | RNA polymerase I subunit A | receptor accessory protein 1 | |
| Synonyms | A190|AFDCIN|RPA1|RPA194|RPO1-4|RPO14 | C2orf23|HMN5B|SPG31|Yip2a | |
| Cytomap | 2p11.2 | 2p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA-directed RNA polymerase I subunit RPA1DNA-directed RNA polymerase I largest subunitDNA-directed RNA polymerase I subunit ADNA-directed RNA polymerase I subunit A1RNA polymerase I 194 kDa subunitpolymerase (RNA) I polypeptide A, 194kDapolymerase | receptor expression-enhancing protein 1spastic paraplegia 31 protein | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O95602 | Q9H902 | |
| Ensembl transtripts involved in fusion gene | ENST00000263857, ENST00000409681, ENST00000483538, | ENST00000165698, ENST00000535845, ENST00000541910, ENST00000538924, ENST00000540790, ENST00000473407, | |
| Fusion gene scores | * DoF score | 5 X 4 X 8=160 | 4 X 2 X 6=48 |
| # samples | 9 | 8 | |
| ** MAII score | log2(9/160*10)=-0.830074998557688 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/48*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: POLR1A [Title/Abstract] AND REEP1 [Title/Abstract] AND fusion [Title/Abstract] CNVs leading to fusion transcripts in individuals with autism spectrum disorder (pmid: 22549408) | ||
| 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 | REEP1 | GO:0051205 | protein insertion into membrane | 15550249 |
| 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 | KICH | TCGA-KO-8411-01A | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| TCGA | RV | KIRC | TCGA-AK-3454-01A | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| TCGA | RV | KIRC | TCGA-B0-4822-01A | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| TCGA | RV | LUAD | TCGA-44-7660-01A | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| TCGA | RV | LUSC | TCGA-77-8133-01A | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| * 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 | ENST00000263857 | ENST00000165698 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5CDS-intron | ENST00000263857 | ENST00000535845 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5CDS-intron | ENST00000263857 | ENST00000541910 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5CDS-intron | ENST00000263857 | ENST00000538924 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5CDS-5UTR | ENST00000263857 | ENST00000540790 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5CDS-5UTR | ENST00000263857 | ENST00000473407 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| Frame-shift | ENST00000409681 | ENST00000165698 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5CDS-intron | ENST00000409681 | ENST00000535845 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5CDS-intron | ENST00000409681 | ENST00000541910 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5CDS-intron | ENST00000409681 | ENST00000538924 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5CDS-5UTR | ENST00000409681 | ENST00000540790 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5CDS-5UTR | ENST00000409681 | ENST00000473407 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5UTR-3CDS | ENST00000483538 | ENST00000165698 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5UTR-intron | ENST00000483538 | ENST00000535845 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5UTR-intron | ENST00000483538 | ENST00000541910 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5UTR-intron | ENST00000483538 | ENST00000538924 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5UTR-5UTR | ENST00000483538 | ENST00000540790 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
| 5UTR-5UTR | ENST00000483538 | ENST00000473407 | POLR1A | chr2 | 86292397 | - | REEP1 | chr2 | 86509365 | - |
Top |
FusionProtFeatures for POLR1A_REEP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| POLR1A | REEP1 |
| DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Largest and catalytic core component of RNA polymeraseI which synthesizes ribosomal RNA precursors. Forms the polymeraseactive center together with the second largest subunit. A singlestranded DNA template strand of the promoter is positioned withinthe central active site cleft of Pol I. A bridging helix emanatesfrom RPA1 and crosses the cleft near the catalytic site and isthought to promote translocation of Pol I by acting as a ratchetthat moves the RNA-DNA hybrid through the active site by switchingfrom straight to bent conformations at each step of nucleotideaddition (By similarity). {ECO:0000250|UniProtKB:P10964}. | Required for endoplasmic reticulum (ER) networkformation, shaping and remodeling; it links ER tubules to thecytoskeleton. May also enhance the cell surface expression ofodorant receptors (PubMed:20200447). May play a role in long-termaxonal maintenance (PubMed:24478229).{ECO:0000269|PubMed:20200447, ECO:0000269|PubMed:24478229}. |
| 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 |
Top |
FusionGeneSequence for POLR1A_REEP1 |
| 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). |
Top |
FusionGenePPI for POLR1A_REEP1 |
| 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 |
| POLR1A | POLR1E, CD3EAP, NOLC1, RRN3, TAF1D, USP11, RPAP3, TAF13, POLR1B, SSRP1, POLR1C, POLR2E, POLR2H, POLR2L, SUPT16H, SIRT7, ERCC6, UBTF, MYBBP1A, SMARCA5, ARRB1, ARRB2, POLR1D, POLR3A, INO80, LGR4, REL, TCF4, ENO1, SHMT2, MOV10, NXF1, KAT2B, CCDC8, RNF2, GPN3, PIH1D1, TWISTNB, SCP2, SKAP1, LOC554223, GFOD1, FBXW11, EEF1A1, EEF1A2, POLR2B, POLR2F, POLR3B, RPS5, POLR3C, RPL10A, RPL9, TRIP10, SCARNA22, DIAPH2, PFDN2, POLR2K, SUPT6H, RUVBL1, URI1, TAF1C, TAF1B, PFDN6, RUVBL2, GPN1, L1TD1, ZNRD1, KIAA1522, NCKAP5L, PDRG1, WDR92, TCOF1, NOP58, KBTBD8, CSNK2A1, RECQL5, BRCA1, UXT, FAM46A, ASB7, LGALS13, SNX21, CDH5, SHPRH, ECD | REEP1 | ELAVL1, YWHAE, KCNA10, PLSCR1, LYPD3, CAV3, REEP4, NCAM1, YWHAZ, REEP2, YWHAG |
| - 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 |
Top |
RelatedDrugs for POLR1A_REEP1 |
| 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 |
Top |
RelatedDiseases for POLR1A_REEP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | POLR1A | C4225317 | ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE | 1 | UNIPROT |
| Tgene | REEP1 | C1853247 | SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT | 4 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|