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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 PSIP1 |
 Gene summary |
| Gene information | Gene symbol | PSIP1 | Gene ID | 11168 |
| Gene name | PC4 and SFRS1 interacting protein 1 | |
| Synonyms | DFS70|LEDGF|PAIP|PSIP2|p52|p75 | |
| Cytomap | 9p22.3 | |
| Type of gene | protein-coding | |
| Description | PC4 and SFRS1-interacting proteinCLL-associated antigen KW-7dense fine speckles 70 kDa proteinlens epithelium-derived growth factortranscriptional coactivator p52/p75 | |
| Modification date | 20180519 | |
| UniProtAcc | O75475 | |
| Context | PubMed: PSIP1 [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 |
| PSIP1 | GO:0000395 | mRNA 5'-splice site recognition | 9885563 |
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Exon skipping events across known transcript of Ensembl for PSIP1 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 PSIP1 |
| 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 PSIP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_502723 | 9 | 15464063:15465578:15466745:15466857:15468627:15468841 | 15466745:15466857 | ENSG00000164985.10 | ENST00000380738.4,ENST00000380733.4 |
| exon_skip_502728 | 9 | 15466745:15466857:15468627:15468841:15468954:15469056 | 15468627:15468841 | ENSG00000164985.10 | ENST00000380738.4,ENST00000380733.4 |
| exon_skip_502736 | 9 | 15478474:15478550:15479588:15479685:15486003:15486066 | 15479588:15479685 | ENSG00000164985.10 | ENST00000380738.4,ENST00000380715.1,ENST00000380733.4,ENST00000380716.4,ENST00000397519.2 |
| exon_skip_502738 | 9 | 15486824:15486929:15489983:15490122:15506558:15506635 | 15489983:15490122 | ENSG00000164985.10 | ENST00000380738.4,ENST00000380715.1,ENST00000380733.4,ENST00000380716.4,ENST00000487363.1,ENST00000397519.2 |
| exon_skip_502739 | 9 | 15506558:15506635:15510114:15510324:15510814:15510944 | 15510114:15510324 | ENSG00000164985.10 | ENST00000488797.1,ENST00000380715.1,ENST00000380716.4 |
| exon_skip_502740 | 9 | 15506558:15506635:15510114:15510327:15510814:15510944 | 15510114:15510327 | ENSG00000164985.10 | ENST00000463712.2,ENST00000380733.4,ENST00000484265.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PSIP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_502723 | 9 | 15464063:15465578:15466745:15466857:15468627:15468841 | 15466745:15466857 | ENSG00000164985.10 | ENST00000380738.4,ENST00000380733.4 |
| exon_skip_502728 | 9 | 15466745:15466857:15468627:15468841:15468954:15469056 | 15468627:15468841 | ENSG00000164985.10 | ENST00000380738.4,ENST00000380733.4 |
| exon_skip_502736 | 9 | 15478474:15478550:15479588:15479685:15486003:15486066 | 15479588:15479685 | ENSG00000164985.10 | ENST00000380738.4,ENST00000380733.4,ENST00000380715.1,ENST00000380716.4,ENST00000397519.2 |
| exon_skip_502738 | 9 | 15486824:15486929:15489983:15490122:15506558:15506635 | 15489983:15490122 | ENSG00000164985.10 | ENST00000380738.4,ENST00000380733.4,ENST00000380715.1,ENST00000380716.4,ENST00000397519.2,ENST00000487363.1 |
| exon_skip_502739 | 9 | 15506558:15506635:15510114:15510324:15510814:15510944 | 15510114:15510324 | ENSG00000164985.10 | ENST00000380715.1,ENST00000380716.4,ENST00000488797.1 |
| exon_skip_502740 | 9 | 15506558:15506635:15510114:15510327:15510814:15510944 | 15510114:15510327 | ENSG00000164985.10 | ENST00000380733.4,ENST00000463712.2,ENST00000484265.1 |
| 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 PSIP1 |
| 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 |
| ENST00000380733 | 15510114 | 15510327 | 3UTR-3CDS |
| ENST00000380733 | 15466745 | 15466857 | Frame-shift |
| ENST00000380738 | 15466745 | 15466857 | Frame-shift |
| ENST00000380733 | 15468627 | 15468841 | Frame-shift |
| ENST00000380738 | 15468627 | 15468841 | Frame-shift |
| ENST00000380733 | 15479588 | 15479685 | Frame-shift |
| ENST00000380738 | 15479588 | 15479685 | Frame-shift |
| ENST00000380733 | 15489983 | 15490122 | Frame-shift |
| ENST00000380738 | 15489983 | 15490122 | 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 |
| ENST00000380733 | 15510114 | 15510327 | 3UTR-3CDS |
| ENST00000380733 | 15466745 | 15466857 | Frame-shift |
| ENST00000380738 | 15466745 | 15466857 | Frame-shift |
| ENST00000380733 | 15468627 | 15468841 | Frame-shift |
| ENST00000380738 | 15468627 | 15468841 | Frame-shift |
| ENST00000380733 | 15479588 | 15479685 | Frame-shift |
| ENST00000380738 | 15479588 | 15479685 | Frame-shift |
| ENST00000380733 | 15489983 | 15490122 | Frame-shift |
| ENST00000380738 | 15489983 | 15490122 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PSIP1 |
| 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 PSIP1 |
| - 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. |
PSIP1_LGG_exon_skip_502736_psi_boxplot.png |
PSIP1_STAD_exon_skip_502736_psi_boxplot.png |
| - 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_502723 | 15466746 | 15466857 | 15466795 | 15466795 | Frame_Shift_Del | C | - | p.E495fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_502728 | 15468628 | 15468841 | 15468648 | 15468648 | Frame_Shift_Del | T | - | p.K467fs |
| LUAD | TCGA-MP-A4TF-01 | exon_skip_502728 | 15468628 | 15468841 | 15468704 | 15468707 | Frame_Shift_Del | TCTT | - | p.QR447fs |
| STAD | TCGA-F1-A72C-01 | exon_skip_502728 | 15468628 | 15468841 | 15468821 | 15468824 | Frame_Shift_Del | ACTA | - | p.409_410del |
| STAD | TCGA-F1-A72C-01 | exon_skip_502728 | 15468628 | 15468841 | 15468821 | 15468824 | Frame_Shift_Del | ACTA | - | p.VS408fs |
| BLCA | TCGA-DK-A1AG-01 | exon_skip_502736 | 15479589 | 15479685 | 15479597 | 15479609 | Frame_Shift_Del | CGTCCTCTTTTAG | - | p.P178fs |
| BLCA | TCGA-DK-A1AG-01 | exon_skip_502736 | 15479589 | 15479685 | 15479597 | 15479609 | Frame_Shift_Del | CGTCCTCTTTTAG | - | p.PKRGR178fs |
| STAD | TCGA-BR-4361-01 | exon_skip_502738 | 15489984 | 15490122 | 15490046 | 15490050 | Frame_Shift_Del | CTTTT | - | p.75_76del |
| STAD | TCGA-BR-4361-01 | exon_skip_502738 | 15489984 | 15490122 | 15490046 | 15490050 | Frame_Shift_Del | CTTTT | - | p.K75fs |
| BLCA | TCGA-UY-A78M-01 | exon_skip_502738 | 15489984 | 15490122 | 15490016 | 15490017 | Frame_Shift_Ins | - | AG | p.N86fs |
| BRCA | TCGA-AO-A0J5-01 | exon_skip_502738 | 15489984 | 15490122 | 15490113 | 15490114 | Frame_Shift_Ins | - | A | p.L53fs |
| BLCA | TCGA-2F-A9KT-01 | exon_skip_502723 | 15466746 | 15466857 | 15466854 | 15466854 | Nonsense_Mutation | G | C | p.S475* |
| LUAD | TCGA-44-A47A-01 | exon_skip_502723 | 15466746 | 15466857 | 15466854 | 15466854 | Nonsense_Mutation | G | C | p.S475* |
| LGG | TCGA-DU-6392-01 | exon_skip_502736 | 15479589 | 15479685 | 15479598 | 15479598 | Nonsense_Mutation | G | A | p.R182* |
| STAD | TCGA-CG-4306-01 | exon_skip_502736 | 15479589 | 15479685 | 15479598 | 15479598 | Nonsense_Mutation | G | A | p.R182* |
| BLCA | TCGA-E5-A4U1-01 | exon_skip_502738 | 15489984 | 15490122 | 15489994 | 15489994 | Nonsense_Mutation | G | C | p.S93* |
| BLCA | TCGA-CF-A27C-01 | exon_skip_502728 | 15468628 | 15468841 | 15468842 | 15468842 | Splice_Site | C | G | p.I403_splice |
| BRCA | TCGA-E2-A1IH-01 | exon_skip_502738 | 15489984 | 15490122 | 15489983 | 15489983 | Splice_Site | C | A | e3+1 |
| BLCA | TCGA-G2-A3VY-01 | exon_skip_502738 | 15489984 | 15490122 | 15490123 | 15490123 | Splice_Site | C | A | p.T50_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DU-6392-01 |
| Cancer type: LGG | |
| ESID: exon_skip_502736 | |
| Skipped exon start: 15479589 | |
| Skipped exon end: 15479685 | |
| Mutation start: 15479598 | |
| Mutation end: 15479598 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R182* | |
exon_skip_106946_LGG_TCGA-DU-6392-01.png | |
exon_skip_114879_LGG_TCGA-DU-6392-01.png | |
exon_skip_120606_LGG_TCGA-DU-6392-01.png | |
exon_skip_130417_LGG_TCGA-DU-6392-01.png | |
exon_skip_138304_LGG_TCGA-DU-6392-01.png | |
exon_skip_143841_LGG_TCGA-DU-6392-01.png | |
exon_skip_143843_LGG_TCGA-DU-6392-01.png | |
exon_skip_145922_LGG_TCGA-DU-6392-01.png | |
exon_skip_155098_LGG_TCGA-DU-6392-01.png | |
exon_skip_26359_LGG_TCGA-DU-6392-01.png | |
exon_skip_290929_LGG_TCGA-DU-6392-01.png | |
exon_skip_297109_LGG_TCGA-DU-6392-01.png | |
exon_skip_33957_LGG_TCGA-DU-6392-01.png | |
exon_skip_343170_LGG_TCGA-DU-6392-01.png | |
exon_skip_354191_LGG_TCGA-DU-6392-01.png | |
exon_skip_367235_LGG_TCGA-DU-6392-01.png | |
exon_skip_423495_LGG_TCGA-DU-6392-01.png | |
exon_skip_423582_LGG_TCGA-DU-6392-01.png | |
exon_skip_430528_LGG_TCGA-DU-6392-01.png | |
exon_skip_432953_LGG_TCGA-DU-6392-01.png | |
exon_skip_436589_LGG_TCGA-DU-6392-01.png | |
exon_skip_438105_LGG_TCGA-DU-6392-01.png | |
exon_skip_438310_LGG_TCGA-DU-6392-01.png | |
exon_skip_442085_LGG_TCGA-DU-6392-01.png | |
exon_skip_481046_LGG_TCGA-DU-6392-01.png | |
exon_skip_484517_LGG_TCGA-DU-6392-01.png | |
exon_skip_502736_LGG_TCGA-DU-6392-01.png | |
exon_skip_512614_LGG_TCGA-DU-6392-01.png | |
exon_skip_7508_LGG_TCGA-DU-6392-01.png | |
exon_skip_7509_LGG_TCGA-DU-6392-01.png | |
exon_skip_79467_LGG_TCGA-DU-6392-01.png | |
exon_skip_85050_LGG_TCGA-DU-6392-01.png | |
exon_skip_95050_LGG_TCGA-DU-6392-01.png | |
exon_skip_95053_LGG_TCGA-DU-6392-01.png | |
| - 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 |
| OE19_OESOPHAGUS | 15489984 | 15490122 | 15490046 | 15490050 | Frame_Shift_Del | CTTTT | - | p.KG75fs |
| DSH1_URINARY_TRACT | 15468628 | 15468841 | 15468788 | 15468789 | Frame_Shift_Ins | - | T | p.Y420fs |
| RKO_LARGE_INTESTINE | 15466746 | 15466857 | 15466818 | 15466818 | Missense_Mutation | C | T | p.G487D |
| HT115_LARGE_INTESTINE | 15466746 | 15466857 | 15466833 | 15466833 | Missense_Mutation | G | T | p.S482Y |
| COLO829_MATCHED_NORMAL_TISSUE | 15468628 | 15468841 | 15468764 | 15468764 | Missense_Mutation | C | G | p.L428F |
| 2313287_STOMACH | 15468628 | 15468841 | 15468771 | 15468771 | Missense_Mutation | A | C | p.M426R |
| DV90_LUNG | 15479589 | 15479685 | 15479597 | 15479597 | Missense_Mutation | C | A | p.R182L |
| DV90_LUNG | 15479589 | 15479685 | 15479634 | 15479634 | Missense_Mutation | C | T | p.A170T |
| MELHO_SKIN | 15489984 | 15490122 | 15489991 | 15489991 | Missense_Mutation | C | G | p.S94T |
| HEC251_ENDOMETRIUM | 15489984 | 15490122 | 15490025 | 15490025 | Missense_Mutation | C | T | p.E83K |
| NCIH187_LUNG | 15489984 | 15490122 | 15490051 | 15490051 | Missense_Mutation | C | G | p.R74T |
| FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15489984 | 15490122 | 15490078 | 15490078 | Missense_Mutation | T | A | p.K65M |
| HCC2998_LARGE_INTESTINE | 15489984 | 15490122 | 15490096 | 15490096 | Missense_Mutation | A | C | p.F59C |
| NCIH23_LUNG | 15466746 | 15466857 | 15466825 | 15466825 | Nonsense_Mutation | G | A | p.Q485* |
| SNU1040_LARGE_INTESTINE | 15468628 | 15468841 | 15468835 | 15468835 | Nonsense_Mutation | G | A | p.R405* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PSIP1 |
| 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 PSIP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PSIP1 |
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RelatedDrugs for PSIP1 |
| 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 PSIP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PSIP1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
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