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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 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 | 20180523 | |
| UniProtAcc | P29590 | |
| Context | PubMed: PML [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 |
| 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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Exon skipping events across known transcript of Ensembl for PML 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 PML |
| 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 PML |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_123450 | 15 | 74317220:74317268:74324912:74325056:74325496:74325546 | 74324912:74325056 | ENSG00000140464.15 | ENST00000268058.3,ENST00000435786.2,ENST00000569965.1,ENST00000566068.1,ENST00000268059.6,ENST00000395135.3,ENST00000569477.1,ENST00000436891.3 |
| exon_skip_123457 | 15 | 74317220:74317268:74325496:74325755:74326818:74326871 | 74325496:74325755 | ENSG00000140464.15 | ENST00000354026.6,ENST00000565898.1,ENST00000564428.1 |
| exon_skip_123460 | 15 | 74317220:74317268:74325496:74325763:74326818:74326871 | 74325496:74325763 | ENSG00000140464.15 | ENST00000567606.1,ENST00000562086.1 |
| exon_skip_123469 | 15 | 74324912:74325056:74325496:74325755:74326818:74326871 | 74325496:74325755 | ENSG00000140464.15 | ENST00000268058.3,ENST00000435786.2,ENST00000566068.1,ENST00000268059.6,ENST00000395135.3,ENST00000569477.1 |
| exon_skip_123470 | 15 | 74324912:74325056:74325496:74325763:74326818:74326871 | 74325496:74325763 | ENSG00000140464.15 | ENST00000569965.1,ENST00000436891.3 |
| exon_skip_123475 | 15 | 74326818:74326871:74335329:74335480:74336561:74339112 | 74335329:74335480 | ENSG00000140464.15 | ENST00000268058.3,ENST00000565898.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PML |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_123450 | 15 | 74317220:74317268:74324912:74325056:74325496:74325546 | 74324912:74325056 | ENSG00000140464.15 | ENST00000395135.3,ENST00000268059.6,ENST00000268058.3,ENST00000569477.1,ENST00000569965.1,ENST00000436891.3,ENST00000435786.2,ENST00000566068.1 |
| exon_skip_123457 | 15 | 74317220:74317268:74325496:74325755:74326818:74326871 | 74325496:74325755 | ENSG00000140464.15 | ENST00000354026.6,ENST00000565898.1,ENST00000564428.1 |
| exon_skip_123460 | 15 | 74317220:74317268:74325496:74325763:74326818:74326871 | 74325496:74325763 | ENSG00000140464.15 | ENST00000567606.1,ENST00000562086.1 |
| exon_skip_123469 | 15 | 74324912:74325056:74325496:74325755:74326818:74326871 | 74325496:74325755 | ENSG00000140464.15 | ENST00000395135.3,ENST00000268059.6,ENST00000268058.3,ENST00000569477.1,ENST00000435786.2,ENST00000566068.1 |
| exon_skip_123470 | 15 | 74324912:74325056:74325496:74325763:74326818:74326871 | 74325496:74325763 | ENSG00000140464.15 | ENST00000569965.1,ENST00000436891.3 |
| exon_skip_123475 | 15 | 74326818:74326871:74335329:74335480:74336561:74339112 | 74335329:74335480 | ENSG00000140464.15 | ENST00000268058.3,ENST00000565898.1 |
| 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 PML |
| 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 |
| ENST00000268058 | 74325496 | 74325755 | Frame-shift |
| ENST00000268058 | 74335329 | 74335480 | Frame-shift |
| ENST00000268058 | 74324912 | 74325056 | 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 |
| ENST00000268058 | 74325496 | 74325755 | Frame-shift |
| ENST00000268058 | 74335329 | 74335480 | Frame-shift |
| ENST00000268058 | 74324912 | 74325056 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PML |
| 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 |
| ENST00000268058 | 4525 | 882 | 74324912 | 74325056 | 1351 | 1494 | 418 | 466 |
| 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 |
| ENST00000268058 | 4525 | 882 | 74324912 | 74325056 | 1351 | 1494 | 418 | 466 |
| 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 PML |
| - 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. |
PML_LIHC_exon_skip_123450_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-G3-A3CJ-01 | exon_skip_123450 | 74324913 | 74325056 | 74325000 | 74325000 | Frame_Shift_Del | G | - | p.G448fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_123457 exon_skip_123469 | 74325497 | 74325755 | 74325550 | 74325550 | Frame_Shift_Del | C | - | p.C436fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_123460 exon_skip_123470 | 74325497 | 74325763 | 74325550 | 74325550 | Frame_Shift_Del | C | - | p.C436fs |
| LIHC | TCGA-DD-AADI-01 | exon_skip_123450 | 74324913 | 74325056 | 74324992 | 74324992 | Nonsense_Mutation | C | G | p.S445X |
| UCEC | TCGA-AP-A059-01 | exon_skip_123457 exon_skip_123469 | 74325497 | 74325755 | 74325572 | 74325572 | Nonsense_Mutation | G | T | p.E492* |
| UCEC | TCGA-AP-A059-01 | exon_skip_123460 exon_skip_123470 | 74325497 | 74325763 | 74325572 | 74325572 | Nonsense_Mutation | G | T | p.E492* |
| LUAD | TCGA-91-6840-01 | exon_skip_123457 exon_skip_123469 | 74325497 | 74325755 | 74325578 | 74325578 | Nonsense_Mutation | G | T | p.E446* |
| LUAD | TCGA-91-6840-01 | exon_skip_123457 exon_skip_123469 | 74325497 | 74325755 | 74325578 | 74325578 | Nonsense_Mutation | G | T | p.E494* |
| LUAD | TCGA-91-6840-01 | exon_skip_123460 exon_skip_123470 | 74325497 | 74325763 | 74325578 | 74325578 | Nonsense_Mutation | G | T | p.E446* |
| LUAD | TCGA-91-6840-01 | exon_skip_123460 exon_skip_123470 | 74325497 | 74325763 | 74325578 | 74325578 | Nonsense_Mutation | G | T | p.E494* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DD-AADI-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_123450 | |
| Skipped exon start: 74324913 | |
| Skipped exon end: 74325056 | |
| Mutation start: 74324992 | |
| Mutation end: 74324992 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: p.S445X | |
exon_skip_123450_LIHC_TCGA-DD-AADI-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 |
| CCK81_LARGE_INTESTINE | 74325497 | 74325755 | 74325746 | 74325746 | Frame_Shift_Del | G | - | p.G550fs |
| CCK81_LARGE_INTESTINE | 74325497 | 74325763 | 74325746 | 74325746 | Frame_Shift_Del | G | - | p.G550fs |
| IGROV1_OVARY | 74325497 | 74325755 | 74325746 | 74325746 | Frame_Shift_Del | G | - | p.G550fs |
| IGROV1_OVARY | 74325497 | 74325763 | 74325746 | 74325746 | Frame_Shift_Del | G | - | p.G550fs |
| A431_SKIN | 74324913 | 74325056 | 74324916 | 74324916 | Missense_Mutation | G | C | p.E420Q |
| BB65RCC_KIDNEY | 74324913 | 74325056 | 74324917 | 74324917 | Missense_Mutation | A | T | p.E420V |
| SNU1040_LARGE_INTESTINE | 74324913 | 74325056 | 74324927 | 74324927 | Missense_Mutation | G | T | p.E423D |
| COLO792_SKIN | 74324913 | 74325056 | 74324929 | 74324929 | Missense_Mutation | G | A | p.R424K |
| NCIH510_LUNG | 74324913 | 74325056 | 74324956 | 74324956 | Missense_Mutation | G | T | p.G433V |
| HEC59_ENDOMETRIUM | 74324913 | 74325056 | 74325039 | 74325039 | Missense_Mutation | G | T | p.G461C |
| A704_KIDNEY | 74325497 | 74325755 | 74325672 | 74325672 | Missense_Mutation | C | T | p.P525L |
| A704_KIDNEY | 74325497 | 74325763 | 74325672 | 74325672 | Missense_Mutation | C | T | p.P525L |
| EN_ENDOMETRIUM | 74325497 | 74325755 | 74325674 | 74325674 | Missense_Mutation | C | A | p.P526T |
| EN_ENDOMETRIUM | 74325497 | 74325763 | 74325674 | 74325674 | Missense_Mutation | C | A | p.P526T |
| SNU1040_LARGE_INTESTINE | 74325497 | 74325755 | 74325692 | 74325692 | Missense_Mutation | G | A | p.V532I |
| SNU1040_LARGE_INTESTINE | 74325497 | 74325763 | 74325692 | 74325692 | Missense_Mutation | G | A | p.V532I |
| H2369_PLEURA | 74325497 | 74325755 | 74325726 | 74325726 | Missense_Mutation | A | G | p.N543S |
| H2369_PLEURA | 74325497 | 74325763 | 74325726 | 74325726 | Missense_Mutation | A | G | p.N543S |
| SNU1040_LARGE_INTESTINE | 74325497 | 74325755 | 74325731 | 74325731 | Missense_Mutation | G | A | p.V545M |
| SNU1040_LARGE_INTESTINE | 74325497 | 74325763 | 74325731 | 74325731 | Missense_Mutation | G | A | p.V545M |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74335330 | 74335480 | 74335411 | 74335411 | Missense_Mutation | G | A | p.E598K |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 74335330 | 74335480 | 74335336 | 74335336 | Nonsense_Mutation | C | T | p.R573* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PML |
| 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 PML |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PML |
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RelatedDrugs for PML |
| 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 |
| P29590 | DB01169 | Arsenic trioxide | Protein PML | small molecule | approved|investigational |
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RelatedDiseases for PML |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PML | C0023487 | Acute Promyelocytic Leukemia | 20 | CTD_human;ORPHANET |
| PML | C0017636 | Glioblastoma | 1 | CTD_human |
| PML | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
| PML | C0029401 | Osteitis Deformans | 1 | CTD_human |
| PML | C0036341 | Schizophrenia | 1 | CTD_human |
| PML | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
| PML | C0085183 | Neoplasms, Second Primary | 1 | CTD_human |
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