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Fusion gene ID: 30987 |
FusionGeneSummary for REST_EAPP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: REST_EAPP | Fusion gene ID: 30987 | Hgene | Tgene | Gene symbol | REST | EAPP | Gene ID | 5978 | 55837 |
| Gene name | RE1 silencing transcription factor | E2F associated phosphoprotein | |
| Synonyms | GINGF5|HGF5|NRSF|WT6|XBR | BM036|C14orf11 | |
| Cytomap | 4q12 | 14q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | RE1-silencing transcription factorneural-restrictive silencer factorneuron restrictive silencer factorrepressor binding to the X2 box | E2F-associated phosphoprotein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q13127 | Q56P03 | |
| Ensembl transtripts involved in fusion gene | ENST00000309042, ENST00000514063, | ENST00000250454, | |
| Fusion gene scores | * DoF score | 4 X 4 X 1=16 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: REST [Title/Abstract] AND EAPP [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 | REST | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8568247|21284946 |
| Hgene | REST | GO:0043922 | negative regulation by host of viral transcription | 17555596 |
| Hgene | REST | GO:0045892 | negative regulation of transcription, DNA-templated | 7697725|10449787|10734093|17984088|19342457 |
| Hgene | REST | GO:0045893 | positive regulation of transcription, DNA-templated | 17984088 |
| Hgene | REST | GO:0070933 | histone H4 deacetylation | 17555596 |
| Hgene | REST | GO:0071385 | cellular response to glucocorticoid stimulus | 17984088 |
| Tgene | EAPP | GO:0008284 | positive regulation of cell proliferation | 15716352 |
| Tgene | EAPP | GO:0032968 | positive regulation of transcription elongation from RNA polymerase II promoter | 15716352 |
| Tgene | EAPP | GO:0034244 | negative regulation of transcription elongation from RNA polymerase II promoter | 15716352 |
| 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 | KF429249 | REST | chr4 | 57777702 | + | EAPP | chr14 | 34994015 | - |
| * 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 | ENST00000309042 | ENST00000250454 | REST | chr4 | 57777702 | + | EAPP | chr14 | 34994015 | - |
| 3UTR-3CDS | ENST00000514063 | ENST00000250454 | REST | chr4 | 57777702 | + | EAPP | chr14 | 34994015 | - |
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FusionProtFeatures for REST_EAPP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| REST | EAPP |
| Transcriptional repressor which binds neuron-restrictivesilencer element (NRSE) and represses neuronal gene transcriptionin non-neuronal cells. Restricts the expression of neuronal genesby associating with two distinct corepressors, mSin3 and CoREST,which in turn recruit histone deacetylase to the promoters ofREST-regulated genes. Mediates repression by recruiting the BHCcomplex at RE1/NRSE sites which acts by deacetylating anddemethylating specific sites on histones, thereby acting as achromatin modifier. Transcriptional repression by REST-CDYL viathe recruitment of histone methyltransferase EHMT2 may beimportant in transformation suppression.{ECO:0000269|PubMed:12399542, ECO:0000269|PubMed:19061646,ECO:0000269|PubMed:26551668, ECO:0000269|PubMed:7697725,ECO:0000269|PubMed:7871435, ECO:0000269|PubMed:8568247}. | May play an important role in the fine-tuning of bothmajor E2F1 activities, the regulation of the cell-cycle and theinduction of apoptosis. Promotes S-phase entry, and inhibitsp14(ARP) expression. {ECO:0000269|PubMed:15716352}. |
| 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 REST_EAPP |
| 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 REST_EAPP |
| 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 |
| REST | RCOR1, KDM5C, RNF2, NCOR1, HDAC2, HDAC1, CDYL, SMARCA4, HDAC5, HDAC4, SMARCE1, SMARCC2, SP1, TBP, GTF2B, SIN3B, SIN3A, SUB1, GRIA2, TERF2, BTRC, FBXW11, FBXW2, FBXW4, FBXW5, FBXW8, FBXW7, EIF4A3, EHMT2, CSNK1E, UBC, PLK1, TEX14, SCYL1, PIN1, MAPK1, CTDSP1, AURKA | EAPP | AAR2, ELAVL1, UBQLN4, UBE3A, DDX23, TSSC4, USB1, SNRNP200, GPATCH1, DHX35, ECD, CDC5L, CRNKL1, IGHA1, WDR83, LZTS2, CD2BP2, SNRPN, SNRPE, KIAA1143, SLX1A, PRPF8, EFTUD2, AQR, CWC22, DHX38, DHX8, EAPP, HSF1, ISY1, NCDN, PLRG1, PRPF19, PRPF6, RUVBL1, RUVBL2, SLU7, SMYD4, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNW1, SRRM2, XAB2, ZNHIT2, USP39, SLC7A6OS |
| - 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 REST_EAPP |
| 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 REST_EAPP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | REST | C0015923 | Fetal Alcohol Syndrome | 1 | PSYGENET |
| Hgene | REST | C0027708 | Nephroblastoma | 1 | CTD_human;HPO;ORPHANET |
| Hgene | REST | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | REST | C0036572 | Seizures | 1 | CTD_human |
| Hgene | REST | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Hgene | REST | C3891301 | WILMS TUMOR, SUSCEPTIBILITY TO | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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