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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for PML |
 Gene summary |
| Gene information | Gene symbol | PML | Gene ID | 5371 |
| Gene name | promyelocytic leukemia | |
| Synonyms | MYL|PP8675|RNF71|TRIM19 | |
| Cytomap | 15q24.1 | |
| Type of gene | protein-coding | |
| Description | protein PMLPML/RARA fusionRING finger protein 71probable transcription factor PMLpromyelocytic leukemia proteinpromyelocytic leukemia, inducer oftripartite motif protein TRIM19tripartite motif-containing protein 19 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| PML | GO:0001666 | response to hypoxia | 16915281 |
| PML | GO:0030308 | negative regulation of cell growth | 9448006 |
| PML | GO:0034097 | response to cytokine | 9412458 |
| PML | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 22406621 |
| PML | GO:0045087 | innate immune response | 18248090 |
| PML | GO:0045892 | negative regulation of transcription, DNA-templated | 9448006 |
| PML | GO:0051457 | maintenance of protein location in nucleus | 17332504 |
| PML | GO:0065003 | protein-containing complex assembly | 12915590 |
| PML | GO:0090398 | cellular senescence | 22002537|22117195|23431171 |
| PML | GO:1902187 | negative regulation of viral release from host cell | 18248090 |
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Gene structures and expression levels for PML |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000140464
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| TC | DOWN | ENST00000565317.1 | PML-214:lncRNA:PML | 4.534210e+00 | -1.525206e+00 | 7.372237e-05 | 1.267778e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PML |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_160971 | chr15 | 74024880:74024927:74033156:74033422:74034478:74034530 | 74033156:74033422 |
| exon_skip_251153 | chr15 | 74024880:74024927:74032572:74032715:74033156:74033205 | 74032572:74032715 |
| exon_skip_263240 | chr15 | 74024857:74024927:74033156:74033422:74034478:74034530 | 74033156:74033422 |
| exon_skip_38672 | chr15 | 74024880:74024927:74033156:74033414:74034478:74034530 | 74033156:74033414 |
| exon_skip_53863 | chr15 | 74024857:74024927:74033156:74033414:74034478:74034530 | 74033156:74033414 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for PML |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000268058 | 74032572 | 74032715 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000268058 | 74032572 | 74032715 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000268058 | 74032572 | 74032715 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PML |
p-ENSG00000140464_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000268058 | 4525 | 882 | 74032572 | 74032715 | 1352 | 1494 | 418 | 466 |
| Loci of skipped exons in MSBB 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 |
| ENST00000268058 | 4525 | 882 | 74032572 | 74032715 | 1352 | 1494 | 418 | 466 |
| Loci of skipped exons in Mayo 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 |
| ENST00000268058 | 4525 | 882 | 74032572 | 74032715 | 1352 | 1494 | 418 | 466 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| P29590 | 418 | 466 | 419 | 466 | Alternative sequence | ID=VSP_040590;Note=In isoform PML-11%2C isoform PML-12 and isoform PML-13. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11331580,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PM |
| P29590 | 418 | 466 | 419 | 435 | Alternative sequence | ID=VSP_040591;Note=In isoform PML-7. PEEAERVKAQVQALGLA->LPPPAHALTGPAQSSTH;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331580;Dbxref=PMID:11331580 |
| P29590 | 418 | 466 | 419 | 423 | Alternative sequence | ID=VSP_040592;Note=In isoform PML-14. PEEAE->RNALW;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331580;Dbxref=PMID:11331580 |
| P29590 | 418 | 466 | 424 | 882 | Alternative sequence | ID=VSP_040593;Note=In isoform PML-14. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331580;Dbxref=PMID:11331580 |
| P29590 | 418 | 466 | 436 | 882 | Alternative sequence | ID=VSP_040594;Note=In isoform PML-7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331580;Dbxref=PMID:11331580 |
| P29590 | 418 | 466 | 1 | 882 | Chain | ID=PRO_0000056001;Note=Protein PML |
| P29590 | 418 | 466 | 460 | 460 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P29590 | 418 | 466 | 448 | 555 | Region | Note=Interaction with PER2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22274616;Dbxref=PMID:22274616 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| P29590 | 418 | 466 | 419 | 466 | Alternative sequence | ID=VSP_040590;Note=In isoform PML-11%2C isoform PML-12 and isoform PML-13. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11331580,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PM |
| P29590 | 418 | 466 | 419 | 435 | Alternative sequence | ID=VSP_040591;Note=In isoform PML-7. PEEAERVKAQVQALGLA->LPPPAHALTGPAQSSTH;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331580;Dbxref=PMID:11331580 |
| P29590 | 418 | 466 | 419 | 423 | Alternative sequence | ID=VSP_040592;Note=In isoform PML-14. PEEAE->RNALW;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331580;Dbxref=PMID:11331580 |
| P29590 | 418 | 466 | 424 | 882 | Alternative sequence | ID=VSP_040593;Note=In isoform PML-14. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331580;Dbxref=PMID:11331580 |
| P29590 | 418 | 466 | 436 | 882 | Alternative sequence | ID=VSP_040594;Note=In isoform PML-7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331580;Dbxref=PMID:11331580 |
| P29590 | 418 | 466 | 1 | 882 | Chain | ID=PRO_0000056001;Note=Protein PML |
| P29590 | 418 | 466 | 460 | 460 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P29590 | 418 | 466 | 448 | 555 | Region | Note=Interaction with PER2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22274616;Dbxref=PMID:22274616 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| P29590 | 418 | 466 | 419 | 466 | Alternative sequence | ID=VSP_040590;Note=In isoform PML-11%2C isoform PML-12 and isoform PML-13. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11331580,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.7,ECO:0000303|Ref.8;Dbxref=PM |
| P29590 | 418 | 466 | 419 | 435 | Alternative sequence | ID=VSP_040591;Note=In isoform PML-7. PEEAERVKAQVQALGLA->LPPPAHALTGPAQSSTH;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331580;Dbxref=PMID:11331580 |
| P29590 | 418 | 466 | 419 | 423 | Alternative sequence | ID=VSP_040592;Note=In isoform PML-14. PEEAE->RNALW;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331580;Dbxref=PMID:11331580 |
| P29590 | 418 | 466 | 424 | 882 | Alternative sequence | ID=VSP_040593;Note=In isoform PML-14. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331580;Dbxref=PMID:11331580 |
| P29590 | 418 | 466 | 436 | 882 | Alternative sequence | ID=VSP_040594;Note=In isoform PML-7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11331580;Dbxref=PMID:11331580 |
| P29590 | 418 | 466 | 1 | 882 | Chain | ID=PRO_0000056001;Note=Protein PML |
| P29590 | 418 | 466 | 460 | 460 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P29590 | 418 | 466 | 448 | 555 | Region | Note=Interaction with PER2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22274616;Dbxref=PMID:22274616 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P29590 | 418 | 466 | 419 | 419 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PML |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for PML |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for PML |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PML |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for PML |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PML |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P29590 | approved|investigational | DB01169 | Arsenic trioxide | small molecule | P29590 |
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RelatedDiseases for PML |
| 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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