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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 PBX1 |
 Gene summary |
| Gene information | Gene symbol | PBX1 | Gene ID | 5087 |
| Gene name | PBX homeobox 1 | |
| Synonyms | CAKUHED | |
| Cytomap | 1q23.3 | |
| Type of gene | protein-coding | |
| Description | pre-B-cell leukemia transcription factor 1homeobox protein PBX1homeobox protein PRLpre-B-cell leukemia homeobox 1 | |
| Modification date | 20180519 | |
| UniProtAcc | P40424 | |
| Context | PubMed: PBX1 [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 |
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Exon skipping events across known transcript of Ensembl for PBX1 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 PBX1 |
| 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 PBX1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_13576 | 1 | 164528643:164528766:164528958:164529250:164532474:164532548 | 164528958:164529250 | ENSG00000185630.14 | ENST00000340699.3 |
| exon_skip_13578 | 1 | 164529059:164529250:164532474:164532548:164761730:164761975 | 164532474:164532548 | ENSG00000185630.14 | ENST00000559240.1,ENST00000340699.3,ENST00000367897.1,ENST00000540236.1,ENST00000401534.1,ENST00000420696.2 |
| exon_skip_13596 | 1 | 164595272:164595333:164626349:164626609:164761730:164761975 | 164626349:164626609 | ENSG00000185630.14 | ENST00000560641.1 |
| exon_skip_13599 | 1 | 164776778:164776914:164781226:164781386:164790773:164790820 | 164781226:164781386 | ENSG00000185630.14 | ENST00000367897.1,ENST00000401534.1 |
| exon_skip_13601 | 1 | 164781226:164781386:164789308:164789421:164790773:164790820 | 164789308:164789421 | ENSG00000185630.14 | ENST00000540246.1,ENST00000496120.2,ENST00000468104.1,ENST00000540236.1,ENST00000560641.1,ENST00000560469.1,ENST00000420696.2 |
| exon_skip_13602 | 1 | 164781226:164781386:164790773:164790863:164815820:164815913 | 164790773:164790863 | ENSG00000185630.14 | ENST00000367897.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PBX1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_13576 | 1 | 164528643:164528766:164528958:164529250:164532474:164532548 | 164528958:164529250 | ENSG00000185630.14 | ENST00000340699.3 |
| exon_skip_13578 | 1 | 164529059:164529250:164532474:164532548:164761730:164761975 | 164532474:164532548 | ENSG00000185630.14 | ENST00000340699.3,ENST00000420696.2,ENST00000559240.1,ENST00000367897.1,ENST00000540236.1,ENST00000401534.1 |
| exon_skip_13596 | 1 | 164595272:164595333:164626349:164626609:164761730:164761975 | 164626349:164626609 | ENSG00000185630.14 | ENST00000560641.1 |
| exon_skip_13599 | 1 | 164776778:164776914:164781226:164781386:164790773:164790820 | 164781226:164781386 | ENSG00000185630.14 | ENST00000367897.1,ENST00000401534.1 |
| exon_skip_13601 | 1 | 164781226:164781386:164789308:164789421:164790773:164790820 | 164789308:164789421 | ENSG00000185630.14 | ENST00000420696.2,ENST00000540236.1,ENST00000560469.1,ENST00000496120.2,ENST00000468104.1,ENST00000560641.1,ENST00000540246.1 |
| exon_skip_13602 | 1 | 164781226:164781386:164790773:164790863:164815820:164815913 | 164790773:164790863 | ENSG00000185630.14 | ENST00000367897.1 |
| 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 PBX1 |
| 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 |
| ENST00000420696 | 164532474 | 164532548 | Frame-shift |
| ENST00000420696 | 164789308 | 164789421 | 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 |
| ENST00000420696 | 164532474 | 164532548 | Frame-shift |
| ENST00000420696 | 164789308 | 164789421 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PBX1 |
| 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 PBX1 |
| - 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-A3A0-01 | exon_skip_13576 | 164528959 | 164529250 | 164529096 | 164529096 | Frame_Shift_Del | G | - | p.G13fs |
| COAD | TCGA-A6-5665-01 | exon_skip_13578 | 164532475 | 164532548 | 164532540 | 164532540 | Frame_Shift_Del | A | - | p.E86fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_13576 | 164528959 | 164529250 | 164529108 | 164529109 | Frame_Shift_Ins | - | C | p.R17fs |
| KIRP | TCGA-GL-7773-01 | exon_skip_13599 | 164781227 | 164781386 | 164781319 | 164781320 | Frame_Shift_Ins | - | GTATA | p.A310fs |
| KIRP | TCGA-GL-7773-01 | exon_skip_13599 | 164781227 | 164781386 | 164781319 | 164781320 | Frame_Shift_Ins | - | GTATA | p.H311fs |
| - 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 |
| SW13_ADRENAL_CORTEX | 164528959 | 164529250 | 164529175 | 164529175 | Missense_Mutation | G | A | p.R39K |
| NCIH1793_LUNG | 164528959 | 164529250 | 164529226 | 164529226 | Missense_Mutation | A | G | p.Q56R |
| WM793_SKIN | 164532475 | 164532548 | 164532481 | 164532481 | Missense_Mutation | T | G | p.H66Q |
| NCIH1573_LUNG | 164532475 | 164532548 | 164532530 | 164532530 | Missense_Mutation | G | C | p.E83Q |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 164532475 | 164532548 | 164532540 | 164532540 | Missense_Mutation | A | G | p.E86G |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 164781227 | 164781386 | 164781257 | 164781257 | Missense_Mutation | C | T | p.R290W |
| SNU349_KIDNEY | 164781227 | 164781386 | 164781309 | 164781309 | Missense_Mutation | C | G | p.A307G |
| GCT_SOFT_TISSUE | 164781227 | 164781386 | 164781330 | 164781330 | Missense_Mutation | C | T | p.T314I |
| KARPAS231_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 164781227 | 164781386 | 164781363 | 164781363 | Missense_Mutation | C | T | p.S325L |
| MIAPACA2_PANCREAS | 164789309 | 164789421 | 164789329 | 164789329 | Missense_Mutation | A | G | p.M340V |
| PATU8902_PANCREAS | 164789309 | 164789421 | 164789338 | 164789339 | Missense_Mutation | TC | AA | p.S343N |
| HEC108_ENDOMETRIUM | 164789309 | 164789421 | 164789359 | 164789359 | Missense_Mutation | G | A | p.V350M |
| NCIH630_LARGE_INTESTINE | 164789309 | 164789421 | 164789359 | 164789359 | Missense_Mutation | G | A | p.V350M |
| HCC1569_BREAST | 164789309 | 164789421 | 164789405 | 164789405 | Missense_Mutation | C | T | p.A365V |
| NCIH2170_LUNG | 164790774 | 164790863 | 164790817 | 164790817 | Missense_Mutation | G | A | p.S385N |
| CW2_LARGE_INTESTINE | 164790774 | 164790863 | 164790835 | 164790835 | Missense_Mutation | G | T | p.S391I |
| SNU1040_LARGE_INTESTINE | 164781227 | 164781386 | 164781251 | 164781251 | Nonsense_Mutation | C | T | p.R288* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 164781227 | 164781386 | 164781385 | 164781385 | Splice_Site | T | G | p.A332A |
| S117_SOFT_TISSUE | 164781227 | 164781386 | 164781385 | 164781385 | Splice_Site | T | G | p.A332A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PBX1 |
| 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 PBX1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PBX1 |
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RelatedDrugs for PBX1 |
| 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 PBX1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PBX1 | C0006413 | Burkitt Lymphoma | 2 | CTD_human |
| PBX1 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
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