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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for REST |
 Gene summary |
| Gene information | Gene symbol | REST | Gene ID | 5978 |
| Gene name | RE1 silencing transcription factor | |
| Synonyms | GINGF5|HGF5|NRSF|WT6|XBR | |
| Cytomap | 4q12 | |
| Type of gene | protein-coding | |
| Description | RE1-silencing transcription factorneural-restrictive silencer factorneuron restrictive silencer factorrepressor binding to the X2 box | |
| Modification date | 20180523 | |
| UniProtAcc | Q13127 | |
| Context | PubMed: REST [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| REST | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8568247|21284946 |
| REST | GO:0043922 | negative regulation by host of viral transcription | 17555596 |
| REST | GO:0045892 | negative regulation of transcription, DNA-templated | 7697725|10449787|10734093|17984088|19342457 |
| REST | GO:0045893 | positive regulation of transcription, DNA-templated | 17984088 |
| REST | GO:0070933 | histone H4 deacetylation | 17555596 |
| REST | GO:0071385 | cellular response to glucocorticoid stimulus | 17984088 |
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Exon skipping events across known transcript of Ensembl for REST from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for REST |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for REST |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_423870 | 4 | 57777377:57777702:57785952:57786036:57796006:57796125 | 57785952:57786036 | ENSG00000084093.11 | ENST00000309042.7 |
| exon_skip_423872 | 4 | 57785952:57786036:57793780:57793830:57796006:57796125 | 57793780:57793830 | ENSG00000084093.11 | ENST00000514063.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for REST |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_423870 | 4 | 57777377:57777702:57785952:57786036:57796006:57796125 | 57785952:57786036 | ENSG00000084093.11 | ENST00000309042.7 |
| exon_skip_423872 | 4 | 57785952:57786036:57793780:57793830:57796006:57796125 | 57793780:57793830 | ENSG00000084093.11 | ENST00000514063.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for REST |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000309042 | 57785952 | 57786036 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000309042 | 57785952 | 57786036 | In-frame |
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Infer the effects of exon skipping event on protein functional features for REST |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000309042 | 7317 | 1097 | 57785952 | 57786036 | 1213 | 1296 | 299 | 327 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000309042 | 7317 | 1097 | 57785952 | 57786036 | 1213 | 1296 | 299 | 327 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q13127 | 299 | 327 | 301 | 313 | Alternative sequence | ID=VSP_022064;Note=In isoform 2. ERPYKCELCPYSS->KRSFLVHKFSSLF;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7871435;Dbxref=PMID:7871435 |
| Q13127 | 299 | 327 | 304 | 326 | Alternative sequence | ID=VSP_022067;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13127 | 299 | 327 | 314 | 1097 | Alternative sequence | ID=VSP_022065;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7871435;Dbxref=PMID:7871435 |
| Q13127 | 299 | 327 | 1 | 1097 | Chain | ID=PRO_0000269547;Note=RE1-silencing transcription factor |
| Q13127 | 299 | 327 | 322 | 322 | Natural variant | ID=VAR_076335;Note=In WT6%3B inhibits transcriptional repression activity. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26551668;Dbxref=dbSNP:rs869025312,PMID:26551668 |
| Q13127 | 299 | 327 | 145 | 418 | Region | Note=Interaction with ZFP90;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21284946;Dbxref=PMID:21284946 |
| Q13127 | 299 | 327 | 304 | 326 | Zinc finger | Note=C2H2-type 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q13127 | 299 | 327 | 301 | 313 | Alternative sequence | ID=VSP_022064;Note=In isoform 2. ERPYKCELCPYSS->KRSFLVHKFSSLF;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7871435;Dbxref=PMID:7871435 |
| Q13127 | 299 | 327 | 304 | 326 | Alternative sequence | ID=VSP_022067;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13127 | 299 | 327 | 314 | 1097 | Alternative sequence | ID=VSP_022065;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:7871435;Dbxref=PMID:7871435 |
| Q13127 | 299 | 327 | 1 | 1097 | Chain | ID=PRO_0000269547;Note=RE1-silencing transcription factor |
| Q13127 | 299 | 327 | 322 | 322 | Natural variant | ID=VAR_076335;Note=In WT6%3B inhibits transcriptional repression activity. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26551668;Dbxref=dbSNP:rs869025312,PMID:26551668 |
| Q13127 | 299 | 327 | 145 | 418 | Region | Note=Interaction with ZFP90;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21284946;Dbxref=PMID:21284946 |
| Q13127 | 299 | 327 | 304 | 326 | Zinc finger | Note=C2H2-type 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
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SNVs in the skipped exons for REST |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HNSC | TCGA-CN-4735-01 | exon_skip_423870 | 57785953 | 57786036 | 57785989 | 57785989 | Nonsense_Mutation | C | G | p.S312* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for REST |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for REST |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for REST |
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RelatedDrugs for REST |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for REST |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| REST | C0015923 | Fetal Alcohol Syndrome | 1 | PSYGENET |
| REST | C0027708 | Nephroblastoma | 1 | CTD_human;HPO;ORPHANET |
| REST | C0036341 | Schizophrenia | 1 | PSYGENET |
| REST | C0036572 | Seizures | 1 | CTD_human |
| REST | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| 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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