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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 EPC1 |
 Gene summary |
| Gene information | Gene symbol | EPC1 | Gene ID | 80314 |
| Gene name | enhancer of polycomb homolog 1 | |
| Synonyms | Epl1 | |
| Cytomap | 10p11.22 | |
| Type of gene | protein-coding | |
| Description | enhancer of polycomb homolog 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H2F5 | |
| Context | PubMed: EPC1 [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 |
| EPC1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10976108 |
| EPC1 | GO:0043967 | histone H4 acetylation | 14966270 |
| EPC1 | GO:0043968 | histone H2A acetylation | 14966270 |
| EPC1 | GO:0045814 | negative regulation of gene expression, epigenetic | 10976108 |
| EPC1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10976108 |
| EPC1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10976108 |
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Exon skipping events across known transcript of Ensembl for EPC1 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 EPC1 |
| 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 EPC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_48605 | 10 | 32561069:32561095:32561941:32562010:32562090:32562209 | 32561941:32562010 | ENSG00000120616.11 | ENST00000263062.8 |
| exon_skip_48610 | 10 | 32561069:32561095:32562090:32562209:32573625:32573978 | 32562090:32562209 | ENSG00000120616.11 | ENST00000319778.6,ENST00000375110.2 |
| exon_skip_48615 | 10 | 32562116:32562209:32562849:32562966:32573625:32573978 | 32562849:32562966 | ENSG00000120616.11 | ENST00000479380.1 |
| exon_skip_48618 | 10 | 32580090:32580250:32581423:32581572:32581915:32582122 | 32581423:32581572 | ENSG00000120616.11 | ENST00000263062.8,ENST00000319778.6,ENST00000375110.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EPC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_48605 | 10 | 32561069:32561095:32561941:32562010:32562090:32562209 | 32561941:32562010 | ENSG00000120616.11 | ENST00000263062.8 |
| exon_skip_48610 | 10 | 32561069:32561095:32562090:32562209:32573625:32573978 | 32562090:32562209 | ENSG00000120616.11 | ENST00000319778.6,ENST00000375110.2 |
| exon_skip_48615 | 10 | 32562116:32562209:32562849:32562966:32573625:32573978 | 32562849:32562966 | ENSG00000120616.11 | ENST00000479380.1 |
| exon_skip_48618 | 10 | 32580090:32580250:32581423:32581572:32581915:32582122 | 32581423:32581572 | ENSG00000120616.11 | ENST00000319778.6,ENST00000375110.2,ENST00000263062.8 |
| 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 EPC1 |
| 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 |
| ENST00000263062 | 32581423 | 32581572 | Frame-shift |
| ENST00000263062 | 32561941 | 32562010 | 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 |
| ENST00000263062 | 32581423 | 32581572 | Frame-shift |
| ENST00000263062 | 32561941 | 32562010 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EPC1 |
| 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 |
| ENST00000263062 | 2930 | 836 | 32561941 | 32562010 | 2134 | 2202 | 621 | 644 |
| 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 |
| ENST00000263062 | 2930 | 836 | 32561941 | 32562010 | 2134 | 2202 | 621 | 644 |
| 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 |
| 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 |
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SNVs in the skipped exons for EPC1 |
| - 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_48618 | 32581424 | 32581572 | 32581482 | 32581482 | Frame_Shift_Del | T | - | p.R254fs |
| COAD | TCGA-CA-6717-01 | exon_skip_48618 | 32581424 | 32581572 | 32581512 | 32581512 | Nonsense_Mutation | G | A | p.R243X |
| - 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 |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32581424 | 32581572 | 32581470 | 32581470 | Frame_Shift_Del | T | - | p.S257fs |
| PACADD137_PANCREAS | 32581424 | 32581572 | 32581538 | 32581539 | Frame_Shift_Ins | - | T | p.M234fs |
| TOV21G_OVARY | 32581424 | 32581572 | 32581508 | 32581508 | Missense_Mutation | G | A | p.A244V |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32581424 | 32581572 | 32581568 | 32581568 | Missense_Mutation | C | T | p.R224H |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32562091 | 32562209 | 32562159 | 32562159 | Nonsense_Mutation | G | A | p.Q599* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPC1 |
| 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 EPC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPC1 |
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RelatedDrugs for EPC1 |
| 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 EPC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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