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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 PCGF1 |
 Gene summary |
| Gene information | Gene symbol | PCGF1 | Gene ID | 84759 |
| Gene name | polycomb group ring finger 1 | |
| Synonyms | 2010002K04Rik|NSPC1|RNF3A-2|RNF68 | |
| Cytomap | 2p13.1 | |
| Type of gene | protein-coding | |
| Description | polycomb group RING finger protein 1RING finger protein 68nervous system Polycomb-1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BSM1 | |
| Context | PubMed: PCGF1 [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 |
| PCGF1 | GO:0035518 | histone H2A monoubiquitination | 16943429 |
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Exon skipping events across known transcript of Ensembl for PCGF1 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 PCGF1 |
| 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 PCGF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_340290 | 2 | 74732678:74732765:74732863:74732897:74733078:74733184 | 74732863:74732897 | ENSG00000115289.8 | ENST00000233630.6,ENST00000475863.1 |
| exon_skip_340297 | 2 | 74733078:74733184:74733307:74733379:74733858:74734011 | 74733307:74733379 | ENSG00000115289.8 | ENST00000233630.6,ENST00000480844.2,ENST00000475863.1 |
| exon_skip_340301 | 2 | 74733858:74734011:74734168:74734274:74734702:74735707 | 74734168:74734274 | ENSG00000115289.8 | ENST00000233630.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PCGF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_340290 | 2 | 74732678:74732765:74732863:74732897:74733078:74733184 | 74732863:74732897 | ENSG00000115289.8 | ENST00000475863.1,ENST00000233630.6 |
| exon_skip_340297 | 2 | 74733078:74733184:74733307:74733379:74733858:74734011 | 74733307:74733379 | ENSG00000115289.8 | ENST00000475863.1,ENST00000233630.6,ENST00000480844.2 |
| exon_skip_340301 | 2 | 74733858:74734011:74734168:74734274:74734702:74735707 | 74734168:74734274 | ENSG00000115289.8 | ENST00000233630.6 |
| 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 PCGF1 |
| 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 |
| ENST00000233630 | 74732863 | 74732897 | Frame-shift |
| ENST00000233630 | 74734168 | 74734274 | Frame-shift |
| ENST00000233630 | 74733307 | 74733379 | 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 |
| ENST00000233630 | 74732863 | 74732897 | Frame-shift |
| ENST00000233630 | 74734168 | 74734274 | Frame-shift |
| ENST00000233630 | 74733307 | 74733379 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PCGF1 |
| 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 |
| ENST00000233630 | 1809 | 259 | 74733307 | 74733379 | 1265 | 1336 | 117 | 141 |
| 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 |
| ENST00000233630 | 1809 | 259 | 74733307 | 74733379 | 1265 | 1336 | 117 | 141 |
| 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 |
| Q9BSM1 | 117 | 141 | 2 | 259 | Chain | ID=PRO_0000277855;Note=Polycomb group RING finger protein 1 |
| Q9BSM1 | 117 | 141 | 86 | 247 | Region | Note=Required for repressor activity |
| 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 |
| Q9BSM1 | 117 | 141 | 2 | 259 | Chain | ID=PRO_0000277855;Note=Polycomb group RING finger protein 1 |
| Q9BSM1 | 117 | 141 | 86 | 247 | Region | Note=Required for repressor activity |
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SNVs in the skipped exons for PCGF1 |
| - 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 |
| KICH | TCGA-KL-8335-01 | exon_skip_340301 | 74734169 | 74734274 | 74734182 | 74734183 | Frame_Shift_Del | CT | - | p.62_63del |
| KICH | TCGA-KL-8335-01 | exon_skip_340301 | 74734169 | 74734274 | 74734182 | 74734183 | Frame_Shift_Del | CT | - | p.E62fs |
| - 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 |
| NCIH2073_LUNG | 74732864 | 74732897 | 74732874 | 74732874 | Missense_Mutation | C | T | p.S185N |
| NCIH1993_LUNG | 74732864 | 74732897 | 74732874 | 74732874 | Missense_Mutation | C | T | p.S185N |
| HCT15_LARGE_INTESTINE | 74733308 | 74733379 | 74733341 | 74733341 | Missense_Mutation | C | A | p.G131C |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74733308 | 74733379 | 74733308 | 74733308 | Splice_Site | C | T | p.E142K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PCGF1 |
| 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 PCGF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PCGF1 |
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RelatedDrugs for PCGF1 |
| 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 PCGF1 |
| 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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