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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 USP1 |
 Gene summary |
| Gene information | Gene symbol | USP1 | Gene ID | 7398 |
| Gene name | ubiquitin specific peptidase 1 | |
| Synonyms | UBP | |
| Cytomap | 1p31.3 | |
| Type of gene | protein-coding | |
| Description | ubiquitin carboxyl-terminal hydrolase 1deubiquitinating enzyme 1hUBPubiquitin specific processing protease 1ubiquitin specific protease 1ubiquitin thioesterase 1ubiquitin thiolesterase 1 | |
| Modification date | 20180522 | |
| UniProtAcc | O94782 | |
| Context | PubMed: USP1 [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 |
| USP1 | GO:0006282 | regulation of DNA repair | 18082604 |
| USP1 | GO:0009411 | response to UV | 18082604 |
| USP1 | GO:0016579 | protein deubiquitination | 18082604 |
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Exon skipping events across known transcript of Ensembl for USP1 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 USP1 |
| 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 USP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_6933 | 1 | 62902325:62903071:62905469:62905708:62907158:62907251 | 62905469:62905708 | ENSG00000162607.8 | ENST00000339950.4 |
| exon_skip_6936 | 1 | 62907865:62907970:62908829:62908990:62910408:62911100 | 62908829:62908990 | ENSG00000162607.8 | ENST00000339950.4,ENST00000371146.1 |
| exon_skip_6943 | 1 | 62908829:62908990:62910408:62911100:62913011:62913182 | 62910408:62911100 | ENSG00000162607.8 | ENST00000339950.4,ENST00000371146.1 |
| exon_skip_6947 | 1 | 62913011:62913182:62914135:62914337:62915916:62917473 | 62914135:62914337 | ENSG00000162607.8 | ENST00000339950.4,ENST00000371146.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for USP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_6933 | 1 | 62902325:62903071:62905469:62905708:62907158:62907251 | 62905469:62905708 | ENSG00000162607.8 | ENST00000339950.4 |
| exon_skip_6936 | 1 | 62907865:62907970:62908829:62908990:62910408:62911100 | 62908829:62908990 | ENSG00000162607.8 | ENST00000371146.1,ENST00000339950.4 |
| exon_skip_6943 | 1 | 62908829:62908990:62910408:62911100:62913011:62913182 | 62910408:62911100 | ENSG00000162607.8 | ENST00000371146.1,ENST00000339950.4 |
| exon_skip_6947 | 1 | 62913011:62913182:62914135:62914337:62915916:62917473 | 62914135:62914337 | ENSG00000162607.8 | ENST00000371146.1,ENST00000339950.4 |
| 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 USP1 |
| 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 |
| ENST00000339950 | 62905469 | 62905708 | 5CDS-5UTR |
| ENST00000339950 | 62908829 | 62908990 | Frame-shift |
| ENST00000371146 | 62908829 | 62908990 | Frame-shift |
| ENST00000339950 | 62910408 | 62911100 | Frame-shift |
| ENST00000371146 | 62910408 | 62911100 | Frame-shift |
| ENST00000339950 | 62914135 | 62914337 | Frame-shift |
| ENST00000371146 | 62914135 | 62914337 | Frame-shift |
| 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 |
| ENST00000339950 | 62905469 | 62905708 | 5CDS-5UTR |
| ENST00000339950 | 62908829 | 62908990 | Frame-shift |
| ENST00000371146 | 62908829 | 62908990 | Frame-shift |
| ENST00000339950 | 62910408 | 62911100 | Frame-shift |
| ENST00000371146 | 62910408 | 62911100 | Frame-shift |
| ENST00000339950 | 62914135 | 62914337 | Frame-shift |
| ENST00000371146 | 62914135 | 62914337 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for USP1 |
| 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 |
| 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 |
| 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 USP1 |
| - 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-G3-A3CJ-01 | exon_skip_6933 | 62905470 | 62905708 | 62905561 | 62905561 | Frame_Shift_Del | A | - | p.E8fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_6933 | 62905470 | 62905708 | 62905592 | 62905592 | Frame_Shift_Del | A | - | p.S18fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_6933 | 62905470 | 62905708 | 62905646 | 62905646 | Frame_Shift_Del | T | - | p.A36fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_6933 | 62905470 | 62905708 | 62905652 | 62905652 | Frame_Shift_Del | T | - | p.D38fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_6933 | 62905470 | 62905708 | 62905678 | 62905678 | Frame_Shift_Del | A | - | p.E47fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_6936 | 62908830 | 62908990 | 62908839 | 62908839 | Frame_Shift_Del | A | - | p.K136fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_6936 | 62908830 | 62908990 | 62908850 | 62908850 | Frame_Shift_Del | T | - | p.S139fs |
| UCS | TCGA-N7-A59B-01 | exon_skip_6943 | 62910409 | 62911100 | 62910418 | 62910418 | Frame_Shift_Del | C | - | p.N189fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_6943 | 62910409 | 62911100 | 62910520 | 62910520 | Frame_Shift_Del | A | - | p.V223fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_6943 | 62910409 | 62911100 | 62910757 | 62910757 | Frame_Shift_Del | A | - | p.S302fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_6943 | 62910409 | 62911100 | 62910797 | 62910797 | Frame_Shift_Del | A | - | p.K316fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_6943 | 62910409 | 62911100 | 62910822 | 62910822 | Frame_Shift_Del | A | - | p.E324fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_6943 | 62910409 | 62911100 | 62910928 | 62910928 | Frame_Shift_Del | A | - | p.G359fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_6947 | 62914136 | 62914337 | 62914271 | 62914271 | Frame_Shift_Del | T | - | p.L520fs |
| BRCA | TCGA-E9-A1RE-01 | exon_skip_6943 | 62910409 | 62911100 | 62910497 | 62910497 | Nonsense_Mutation | C | T | p.Q216* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_6943 | 62910409 | 62911100 | 62910554 | 62910554 | Nonsense_Mutation | G | T | p.E235* |
| LUAD | TCGA-50-5072-01 | exon_skip_6943 | 62910409 | 62911100 | 62910726 | 62910726 | Nonsense_Mutation | C | G | p.S292* |
| - 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 |
| NCIH2110_LUNG | 62910409 | 62911100 | 62910925 | 62910925 | Frame_Shift_Del | G | - | p.L358fs |
| IM9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62905470 | 62905708 | 62905595 | 62905596 | Frame_Shift_Ins | - | A | p.K20fs |
| LB771HNC_UPPER_AERODIGESTIVE_TRACT | 62910409 | 62911100 | 62910934 | 62910936 | In_Frame_Del | AAC | - | p.T363del |
| LB771PBL_MATCHED_NORMAL_TISSUE | 62910409 | 62911100 | 62910934 | 62910936 | In_Frame_Del | AAC | - | p.T363del |
| TGBC11TKB_STOMACH | 62905470 | 62905708 | 62905552 | 62905552 | Missense_Mutation | T | A | p.I5K |
| NEC8_TESTIS | 62905470 | 62905708 | 62905554 | 62905554 | Missense_Mutation | C | T | p.P6S |
| NCIH661_LUNG | 62905470 | 62905708 | 62905569 | 62905569 | Missense_Mutation | G | A | p.G11R |
| SNU81_LARGE_INTESTINE | 62905470 | 62905708 | 62905680 | 62905680 | Missense_Mutation | A | C | p.K48Q |
| JHH7_LIVER | 62905470 | 62905708 | 62905697 | 62905697 | Missense_Mutation | A | C | p.R53S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 62910409 | 62911100 | 62910435 | 62910435 | Missense_Mutation | A | T | p.Y195F |
| SARC9371_BONE | 62910409 | 62911100 | 62910597 | 62910597 | Missense_Mutation | T | C | p.I249T |
| SNUC2A_LARGE_INTESTINE | 62910409 | 62911100 | 62910600 | 62910600 | Missense_Mutation | A | G | p.E250G |
| SNUC2B_LARGE_INTESTINE | 62910409 | 62911100 | 62910600 | 62910600 | Missense_Mutation | A | G | p.E250G |
| DOV13_OVARY | 62910409 | 62911100 | 62910615 | 62910615 | Missense_Mutation | G | A | p.R255K |
| TOV21G_OVARY | 62910409 | 62911100 | 62910617 | 62910617 | Missense_Mutation | C | T | p.H256Y |
| SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 62910409 | 62911100 | 62910743 | 62910743 | Missense_Mutation | A | G | p.R298G |
| HCC2450_LUNG | 62910409 | 62911100 | 62910829 | 62910829 | Missense_Mutation | G | C | p.E326D |
| LS513_LARGE_INTESTINE | 62910409 | 62911100 | 62910845 | 62910845 | Missense_Mutation | C | G | p.Q332E |
| HCC1588_LUNG | 62910409 | 62911100 | 62910845 | 62910845 | Missense_Mutation | C | G | p.Q332E |
| SIHA_CERVIX | 62910409 | 62911100 | 62911001 | 62911001 | Missense_Mutation | A | C | p.K384Q |
| BT20_BREAST | 62910409 | 62911100 | 62911038 | 62911038 | Missense_Mutation | T | A | p.L396H |
| RKO_LARGE_INTESTINE | 62910409 | 62911100 | 62911067 | 62911067 | Missense_Mutation | G | A | p.V406I |
| LS180_LARGE_INTESTINE | 62910409 | 62911100 | 62911087 | 62911087 | Missense_Mutation | A | C | p.K412N |
| SNU81_LARGE_INTESTINE | 62914136 | 62914337 | 62914164 | 62914164 | Missense_Mutation | G | T | p.K483N |
| SNU1040_LARGE_INTESTINE | 62914136 | 62914337 | 62914211 | 62914211 | Missense_Mutation | T | C | p.V499A |
| HCT116_LARGE_INTESTINE | 62908830 | 62908990 | 62908971 | 62908971 | Nonsense_Mutation | C | T | p.R180* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for USP1 |
| 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 USP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for USP1 |
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RelatedDrugs for USP1 |
| 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 USP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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