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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 WT1 |
 Gene summary |
| Gene information | Gene symbol | WT1 | Gene ID | 7490 |
| Gene name | Wilms tumor 1 | |
| Synonyms | AWT1|GUD|NPHS4|WAGR|WIT-2|WT33 | |
| Cytomap | 11p13 | |
| Type of gene | protein-coding | |
| Description | Wilms tumor protein | |
| Modification date | 20180523 | |
| UniProtAcc | P19544 | |
| Context | PubMed: WT1 [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 |
| WT1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 7585606 |
| WT1 | GO:0007530 | sex determination | 9815658 |
| WT1 | GO:0008285 | negative regulation of cell proliferation | 9553041|9765217 |
| WT1 | GO:0030308 | negative regulation of cell growth | 9553041|9765217 |
| WT1 | GO:0045892 | negative regulation of transcription, DNA-templated | 1332065|7585606|7720589|8119964|12802290|14701728|19050011 |
| WT1 | GO:0045893 | positive regulation of transcription, DNA-templated | 8132626|9178767|9553041|9765217|12802290|14701728|16467207|21390327 |
| WT1 | GO:0071371 | cellular response to gonadotropin stimulus | 15961562 |
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Exon skipping events across known transcript of Ensembl for WT1 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 WT1 |
| 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 WT1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_70150 | 11 | 32410587:32410725:32413517:32413610:32414211:32414301 | 32413517:32413610 | ENSG00000184937.8 | ENST00000530998.1,ENST00000332351.3,ENST00000379077.3 |
| exon_skip_70151 | 11 | 32410587:32410725:32413526:32413610:32414211:32414301 | 32413526:32413610 | ENSG00000184937.8 | ENST00000452863.3,ENST00000448076.3,ENST00000379079.2 |
| exon_skip_70152 | 11 | 32413526:32413610:32414211:32414301:32417802:32417953 | 32414211:32414301 | ENSG00000184937.8 | ENST00000452863.3,ENST00000530998.1,ENST00000332351.3,ENST00000379077.3,ENST00000448076.3,ENST00000379079.2 |
| exon_skip_70153 | 11 | 32414211:32414301:32417802:32417953:32421493:32421590 | 32417802:32417953 | ENSG00000184937.8 | ENST00000452863.3,ENST00000530998.1,ENST00000332351.3,ENST00000379077.3,ENST00000448076.3,ENST00000379079.2 |
| exon_skip_70154 | 11 | 32421493:32421590:32438035:32438086:32439122:32439143 | 32438035:32438086 | ENSG00000184937.8 | ENST00000527775.1,ENST00000527882.1,ENST00000332351.3,ENST00000448076.3,ENST00000379079.2 |
| exon_skip_70155 | 11 | 32421493:32421590:32439122:32439200:32449501:32449604 | 32439122:32439200 | ENSG00000184937.8 | ENST00000452863.3,ENST00000530998.1 |
| exon_skip_70156 | 11 | 32449501:32449604:32450042:32450165:32456245:32456315 | 32450042:32450165 | ENSG00000184937.8 | ENST00000452863.3,ENST00000332351.3,ENST00000379077.3,ENST00000448076.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WT1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_70150 | 11 | 32410587:32410725:32413517:32413610:32414211:32414301 | 32413517:32413610 | ENSG00000184937.8 | ENST00000379077.3,ENST00000332351.3,ENST00000530998.1 |
| exon_skip_70151 | 11 | 32410587:32410725:32413526:32413610:32414211:32414301 | 32413526:32413610 | ENSG00000184937.8 | ENST00000379079.2,ENST00000452863.3,ENST00000448076.3 |
| exon_skip_70152 | 11 | 32413526:32413610:32414211:32414301:32417802:32417953 | 32414211:32414301 | ENSG00000184937.8 | ENST00000379079.2,ENST00000379077.3,ENST00000332351.3,ENST00000530998.1,ENST00000452863.3,ENST00000448076.3 |
| exon_skip_70153 | 11 | 32414211:32414301:32417802:32417953:32421493:32421590 | 32417802:32417953 | ENSG00000184937.8 | ENST00000379079.2,ENST00000379077.3,ENST00000332351.3,ENST00000530998.1,ENST00000452863.3,ENST00000448076.3 |
| exon_skip_70154 | 11 | 32421493:32421590:32438035:32438086:32439122:32439143 | 32438035:32438086 | ENSG00000184937.8 | ENST00000379079.2,ENST00000332351.3,ENST00000448076.3,ENST00000527882.1,ENST00000527775.1 |
| exon_skip_70155 | 11 | 32421493:32421590:32439122:32439200:32449501:32449604 | 32439122:32439200 | ENSG00000184937.8 | ENST00000530998.1,ENST00000452863.3 |
| exon_skip_70156 | 11 | 32449501:32449604:32450042:32450165:32456245:32456315 | 32450042:32450165 | ENSG00000184937.8 | ENST00000379077.3,ENST00000332351.3,ENST00000452863.3,ENST00000448076.3 |
| 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 WT1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for WT1 |
| 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 WT1 |
| - 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_70151 exon_skip_70150 | 32413518 | 32413610 | 32413574 | 32413574 | Frame_Shift_Del | T | - | p.K459fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_70151 exon_skip_70150 | 32413527 | 32413610 | 32413574 | 32413574 | Frame_Shift_Del | T | - | p.K459fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_70151 exon_skip_70150 | 32413518 | 32413610 | 32413587 | 32413587 | Frame_Shift_Del | T | - | p.T455fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_70151 exon_skip_70150 | 32413527 | 32413610 | 32413587 | 32413587 | Frame_Shift_Del | T | - | p.T455fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_70152 | 32414212 | 32414301 | 32414254 | 32414254 | Frame_Shift_Del | A | - | p.S433fs |
| GBM | TCGA-27-2528-01 | exon_skip_70151 exon_skip_70150 | 32413518 | 32413610 | 32413578 | 32413578 | Nonsense_Mutation | G | A | p.R458* |
| GBM | TCGA-27-2528-01 | exon_skip_70151 exon_skip_70150 | 32413527 | 32413610 | 32413578 | 32413578 | Nonsense_Mutation | G | A | p.R458* |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_70151 exon_skip_70150 | 32413518 | 32413610 | 32413578 | 32413578 | Nonsense_Mutation | G | A | p.R458* |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_70151 exon_skip_70150 | 32413527 | 32413610 | 32413578 | 32413578 | Nonsense_Mutation | G | A | p.R458* |
| SKCM | TCGA-IH-A3EA-01 | exon_skip_70151 exon_skip_70150 | 32413518 | 32413610 | 32413596 | 32413596 | Nonsense_Mutation | G | A | p.Q240X |
| SKCM | TCGA-IH-A3EA-01 | exon_skip_70151 exon_skip_70150 | 32413518 | 32413610 | 32413596 | 32413596 | Nonsense_Mutation | G | A | p.Q452* |
| SKCM | TCGA-IH-A3EA-01 | exon_skip_70151 exon_skip_70150 | 32413527 | 32413610 | 32413596 | 32413596 | Nonsense_Mutation | G | A | p.Q240X |
| SKCM | TCGA-IH-A3EA-01 | exon_skip_70151 exon_skip_70150 | 32413527 | 32413610 | 32413596 | 32413596 | Nonsense_Mutation | G | A | p.Q452* |
| HNSC | TCGA-CQ-A4CD-01 | exon_skip_70153 | 32417803 | 32417953 | 32417947 | 32417947 | Nonsense_Mutation | G | A | p.R369* |
| SKCM | TCGA-EB-A4IS-01 | exon_skip_70154 | 32438036 | 32438086 | 32438053 | 32438053 | Nonsense_Mutation | C | T | p.W116X |
| SKCM | TCGA-EB-A4IS-01 | exon_skip_70154 | 32438036 | 32438086 | 32438053 | 32438053 | Nonsense_Mutation | C | T | p.W328* |
| LUAD | TCGA-78-7145-01 | exon_skip_70151 exon_skip_70150 | 32413518 | 32413610 | 32413517 | 32413517 | Splice_Site | C | T | p.S478_splice |
| COAD | TCGA-AD-6895-01 | exon_skip_70152 | 32414212 | 32414301 | 32414302 | 32414302 | Splice_Site | C | T | . |
| - 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 |
| KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32417803 | 32417953 | 32417849 | 32417850 | Frame_Shift_Del | TC | - | p.R189fs |
| C33A_CERVIX | 32413527 | 32413610 | 32413565 | 32413565 | Missense_Mutation | C | T | p.R250Q |
| C33A_CERVIX | 32413518 | 32413610 | 32413565 | 32413565 | Missense_Mutation | C | T | p.R250Q |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32413527 | 32413610 | 32413565 | 32413565 | Missense_Mutation | C | T | p.R250Q |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32413518 | 32413610 | 32413565 | 32413565 | Missense_Mutation | C | T | p.R250Q |
| JHUEM7_ENDOMETRIUM | 32414212 | 32414301 | 32414225 | 32414225 | Missense_Mutation | T | G | p.Q230H |
| CP66MEL_SKIN | 32414212 | 32414301 | 32414251 | 32414251 | Missense_Mutation | G | A | p.R222C |
| SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32414212 | 32414301 | 32414259 | 32414259 | Missense_Mutation | C | A | p.R219M |
| SARC9371_BONE | 32417803 | 32417953 | 32417850 | 32417850 | Missense_Mutation | C | T | p.R189K |
| SCMCRM2_SOFT_TISSUE | 32417803 | 32417953 | 32417895 | 32417895 | Missense_Mutation | C | T | p.S174N |
| NCIH1436_LUNG | 32417803 | 32417953 | 32417931 | 32417931 | Missense_Mutation | A | T | p.V162E |
| DU145_PROSTATE | 32438036 | 32438086 | 32438043 | 32438043 | Missense_Mutation | G | C | p.Q120E |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32450043 | 32450165 | 32450067 | 32450067 | Missense_Mutation | G | T | p.P37T |
| MMACSF_SKIN | 32450043 | 32450165 | 32450067 | 32450067 | Missense_Mutation | G | T | p.P37T |
| SNU601_STOMACH | 32450043 | 32450165 | 32450103 | 32450104 | Missense_Mutation | CC | AA | p.A25S |
| SNUC2B_LARGE_INTESTINE | 32450043 | 32450165 | 32450106 | 32450106 | Missense_Mutation | C | T | p.A24T |
| SF172_CENTRAL_NERVOUS_SYSTEM | 32450043 | 32450165 | 32450120 | 32450120 | Missense_Mutation | G | T | p.T19K |
| HS695T_SKIN | 32450043 | 32450165 | 32450126 | 32450126 | Missense_Mutation | C | T | p.G17D |
| U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32417803 | 32417953 | 32417947 | 32417947 | Nonsense_Mutation | G | A | p.R157* |
| TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32417803 | 32417953 | 32417947 | 32417947 | Nonsense_Mutation | G | A | p.R157* |
| MM415_SKIN | 32439123 | 32439200 | 32439124 | 32439124 | Splice_Site | C | T | p.G105R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WT1 |
| 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 WT1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WT1 |
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RelatedDrugs for WT1 |
| 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 WT1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| WT1 | C0950121 | Denys-Drash Syndrome | 17 | CTD_human;ORPHANET;UNIPROT |
| WT1 | C0027708 | Nephroblastoma | 6 | CTD_human;HPO;ORPHANET;UNIPROT |
| WT1 | C3151568 | NEPHROTIC SYNDROME, TYPE 4 | 4 | CTD_human;UNIPROT |
| WT1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| WT1 | C0017636 | Glioblastoma | 1 | CTD_human |
| WT1 | C0017658 | Glomerulonephritis | 1 | CTD_human |
| WT1 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| WT1 | C0023418 | leukemia | 1 | CTD_human |
| WT1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| WT1 | C0023473 | Myeloid Leukemia, Chronic | 1 | CTD_human |
| WT1 | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
| WT1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| WT1 | C0027809 | Neurilemmoma | 1 | CTD_human |
| WT1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| WT1 | C0031149 | Peritoneal Neoplasms | 1 | CTD_human |
| WT1 | C0085215 | Ovarian Failure, Premature | 1 | CTD_human |
| WT1 | C0235833 | Congenital diaphragmatic hernia | 1 | CTD_human;HPO |
| WT1 | C0345967 | Malignant mesothelioma | 1 | CTD_human;HPO |
| WT1 | C0950122 | Frasier Syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| WT1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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