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Fusion gene ID: 30881 |
FusionGeneSummary for RCOR1_EMC3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RCOR1_EMC3 | Fusion gene ID: 30881 | Hgene | Tgene | Gene symbol | RCOR1 | EMC3 | Gene ID | 23186 | 55831 |
| Gene name | REST corepressor 1 | ER membrane protein complex subunit 3 | |
| Synonyms | COREST|RCOR | POB|TMEM111 | |
| Cytomap | 14q32.31-q32.32 | 3p25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | REST corepressor 1 | ER membrane protein complex subunit 330 kDa proteinpartial optokinetic response btransmembrane protein 111 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9UKL0 | Q9P0I2 | |
| Ensembl transtripts involved in fusion gene | ENST00000262241, ENST00000570597, | ENST00000245046, ENST00000497557, ENST00000429759, | |
| Fusion gene scores | * DoF score | 8 X 8 X 10=640 | 3 X 3 X 3=27 |
| # samples | 12 | 3 | |
| ** MAII score | log2(12/640*10)=-2.41503749927884 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RCOR1 [Title/Abstract] AND EMC3 [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 | RCOR1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10449787 |
| Hgene | RCOR1 | GO:0070933 | histone H4 deacetylation | 17555596 |
| 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 | TGCT | TCGA-2G-AAGC-01A | RCOR1 | chr14 | 103059662 | + | EMC3 | chr3 | 10023417 | - |
| * 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 | ENST00000262241 | ENST00000245046 | RCOR1 | chr14 | 103059662 | + | EMC3 | chr3 | 10023417 | - |
| 5CDS-intron | ENST00000262241 | ENST00000497557 | RCOR1 | chr14 | 103059662 | + | EMC3 | chr3 | 10023417 | - |
| 5CDS-intron | ENST00000262241 | ENST00000429759 | RCOR1 | chr14 | 103059662 | + | EMC3 | chr3 | 10023417 | - |
| 5CDS-intron | ENST00000570597 | ENST00000245046 | RCOR1 | chr14 | 103059662 | + | EMC3 | chr3 | 10023417 | - |
| 5CDS-intron | ENST00000570597 | ENST00000497557 | RCOR1 | chr14 | 103059662 | + | EMC3 | chr3 | 10023417 | - |
| 5CDS-intron | ENST00000570597 | ENST00000429759 | RCOR1 | chr14 | 103059662 | + | EMC3 | chr3 | 10023417 | - |
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FusionProtFeatures for RCOR1_EMC3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RCOR1 | EMC3 |
| Essential component of the BHC complex, a corepressorcomplex that represses transcription of neuron-specific genes innon-neuronal cells. The BHC complex is recruited at RE1/NRSE sitesby REST and acts by deacetylating and demethylating specific siteson histones, thereby acting as a chromatin modifier. In the BHCcomplex, it serves as a molecular beacon for the recruitment ofmolecular machinery, including MeCP2 and SUV39H1, that imposessilencing across a chromosomal interval. Plays a central role indemethylation of Lys-4 of histone H3 by promoting demethylaseactivity of KDM1A on core histones and nucleosomal substrates. Italso protects KDM1A from the proteasome. Component of aRCOR/GFI/KDM1A/HDAC complex that suppresses, via histonedeacetylase (HDAC) recruitment, a number of genes implicated inmultilineage blood cell development and controls hematopoieticdifferentiation. {ECO:0000269|PubMed:11171972,ECO:0000269|PubMed:11516394, ECO:0000269|PubMed:12032298,ECO:0000269|PubMed:12399542, ECO:0000269|PubMed:12493763,ECO:0000269|PubMed:16079794, ECO:0000269|PubMed:16140033}. |
| 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 RCOR1_EMC3 |
| 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 RCOR1_EMC3 |
| 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 |
| RCOR1 | HDAC1, KDM1A, HMG20B, PHF21A, HDAC2, ZNF217, REST, MECP2, ZMYM2, CTBP1, KDM5B, CTBP2, HSPA4, SUMO2, ESCO2, SMARCE1, SMARCA4, SMARCC2, HIST1H3A, NR2E1, EMD, SERPINH1, SNAI1, MED12, MED28, TRIP4, OBFC1, BCL3, SUB1, GFI1B, GFI1, TAL1, HIST3H3, RCOR1, TCF3, NR2C1, TP53BP1, MTA3, NPM1, HDAC3, ECE2, FGF1, DOK4, ARRDC1, DDX46, MED23, B9D2, CEP135, NINL, SCLT1, HMG20A, FBXW7, NFATC2, DCAF12L2, ZSCAN5A, LLGL2, NR3C1, AR, PKN3, NCKAP5L, TFPT, CCHCR1, YEATS4, TUFT1, RABGAP1L, GOLGA5, CLOCK, PSMD9, VPS53, DZIP3, GRIPAP1, CCDC132, CCDC93, OIP5, PTRF, PHLDB3, HAUS6, RPRD1A, ARNTL, MAX, GIT2, RABGEF1, NUF2, THAP11, VPS51, TSSC1, RABEP1, TRIM25, UHRF2 | EMC3 | UBC, FBXO6, CCDC8, EGFR, EMC7, EMC8, DERL2, EMC1, EMC9, UBQLN2, EMC2, MMGT1, UBAC2, EMC4, EMC10, SDF2L1, ATP1B4, ENPP6, OFD1, TCTN2, TCTN3, RPGRIP1L, DCTN1, TMEM237, TCTN1, TMEM17, TMEM216, TMEM67, CTDNEP1, TPTE, TRDN, IFNA21, SCGB1D1, PDIA4, SLC18A1, SLC4A8, CSGALNACT2, GNRH1, SLC17A2, EDEM3 |
| - 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 RCOR1_EMC3 |
| 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 RCOR1_EMC3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RCOR1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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