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mutLBSgeneDB |
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| Gene summary for WT1 |
 Gene summary |
| Basic gene Info. | Gene symbol | WT1 |
| Gene name | Wilms tumor 1 | |
| Synonyms | AWT1|EWS-WT1|GUD|NPHS4|WAGR|WIT-2|WT33 | |
| Cytomap | UCSC genome browser: 11p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000378.4, NM_001198551.1,NM_001198552.1,NM_024424.3,NM_024426.4, NM_024425.2, | |
| Description | Wilms tumor proteinamino-terminal domain of EWSlast three zinc fingers of the DNA-binding domain of WT1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 607102 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000184937 | ||
| HPRD : 06163 | ||
| Vega : OTTHUMG00000039556 | ||
| Protein | UniProt: P19544 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_WT1 | |
| BioGPS: 7490 | ||
| Pathway | NCI Pathway Interaction Database: WT1 | |
| KEGG: WT1 | ||
| REACTOME: WT1 | ||
| Pathway Commons: WT1 | ||
| Context | iHOP: WT1 | |
| ligand binding site mutation search in PubMed: WT1 | ||
| UCL Cancer Institute: WT1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | 7585606 | GO:0007530 | sex determination | 9815658 | GO:0008285 | negative regulation of cell proliferation | 9553041 | GO:0017148 | negative regulation of translation | 7588596 | GO:0030308 | negative regulation of cell growth | 7588596 | GO:0043065 | positive regulation of apoptotic process | 7588596 | GO:0045892 | negative regulation of transcription, DNA-templated | 12802290 | GO:0045893 | positive regulation of transcription, DNA-templated | 12802290 | GO:0045893 | positive regulation of transcription, DNA-templated | 9815658 | GO:0071371 | cellular response to gonadotropin stimulus | 15961562 |
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| Ligand binding site mutations for WT1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F425 | H424R | COAD | 2 | M324 | S324G | COAD | 2 | Q341 | T341M | COAD | 1 | M324 | S324N | COAD | 1 | M324 | S324I | COAD | 1 | F383 | R384K | COAD | 1 | G349 | Q349R | COAD | 1 | H377 | Y378H | COAD | 1 | L337 | Y337N | KIRC | 1 | D368 | T368S | KIRC | 1 | R433 | P433Q | LUAD | 1 | E430 | G430V | LUAD | 1 | K412 | D410Y | LUAD | 1 | L337 | Y337D | LUSC | 1 | C325 | D325Y | SKCM | 1 | F425,R427 | R426S | THCA | 1 | F364,R362 | R363W | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
| Clinical information for WT1 from My Cancer Genome. |
| Wilms tumor 1 (WT1) is a gene that encodes a transcription factor that contains four zinc finger motifs and a proline/glutamine-rich DNA binding region at opposite termini. Fusions, missense mutations, nonsense mutations, silent mutations and frameshift deletions are observed in cancers such as acute lymphoblastic leukemia, chronic myeloid leukemia, kidney cancer, lung cancer, and skin cancer.Related Pathways: β-catenin/Wnt signaling. Modified: December 4, 2015 |
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| Protein structure related information for WT1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R362 | R363W | -0.80542579 | F364 | R363W | -0.80542579 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for WT1 from PDB |
| PDB ID | PDB title | PDB structure | 2JP9 | Structure of the Wilms Tumor Suppressor Protein Zinc Finger Domain Bound to DNA |  |
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| Differential gene expression and gene-gene network for WT1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for WT1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027708 | Wilms Tumor | 204 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0023467 | Leukemia, Myeloid, Acute | 59 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0023418 | Leukemia | 48 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0950121 | Denys-Drash Syndrome | 29 | Biomarker, GeneticVariation |
| umls:C0950122 | Frasier Syndrome | 19 | Biomarker, GeneticVariation |
| umls:C0023473 | Leukemia, Myelogenous, Chronic, BCR-ABL Positive | 15 | Biomarker, GeneticVariation |
| umls:C0206115 | WAGR Syndrome | 14 | Biomarker, GeneticVariation |
| umls:C1458155 | Breast Neoplasms | 10 | AlteredExpression, Biomarker |
| umls:C0025500 | Mesothelioma | 6 | Biomarker, GeneticVariation |
| umls:C0017636 | Glioblastoma | 5 | Biomarker |
| umls:C0017658 | Glomerulonephritis | 2 | AlteredExpression, Biomarker |
| umls:C0030297 | Pancreatic Neoplasms | 2 | Biomarker, GeneticVariation |
| umls:C0019284 | Hernia, Diaphragmatic | 2 | Biomarker |
| umls:C0235833 | Hernias, Diaphragmatic, Congenital | 2 | Biomarker |
| umls:C0268747 | Mesangial sclerosis, diffuse | 2 | Biomarker, GeneticVariation |
| umls:C0009375 | Colonic Neoplasms | 1 | Biomarker |
| umls:C0024121 | Lung Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for WT1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of WT1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2prt | A | C325 | NUC | Nucleic Acids | 2prt | A | D368 | NUC | Nucleic Acids | 4r2e | A | D368 | NUC | Nucleic Acids | 4r2q | A | D368 | NUC | Nucleic Acids | 4r2r | A | D368 | NUC | Nucleic Acids | 4r2p | A | D368 F383 | ZN | ZINC(2+) | 2prt | A | H377 | ZN | ZINC(2+) | 4r2e | A | H377 | ZN | ZINC(2+) | 4r2p | A | H377 | ZN | ZINC(2+) | 4r2q | A | H377 | ZN | ZINC(2+) | 4r2r | A | H377 | ZN | ZINC(2+) | 4r2s | A | H377 | NUC | Nucleic Acids | 2prt | A | R362 F364 | NUC | Nucleic Acids | 4r2e | A | R362 F364 | NUC | Nucleic Acids | 4r2p | A | R362 F364 | NUC | Nucleic Acids | 4r2q | A | R362 F364 | NUC | Nucleic Acids | 4r2r | A | R362 F364 | NUC | Nucleic Acids | 4r2s | A | R362 F364 |
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| Conservation information for LBS of WT1 |
| Multiple alignments for P19544 in multiple species |
| LBS | AA sequence | # species | Species | A326 | RPFMCAYPGCN | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | C325 | KRPFMCAYPGC | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | C330 | CAYPGCNKRYF | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | C355 | EKPYQCDFKDC | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | C360 | CDFKDCERRFS | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | D368 | RFSRSDQLKRH | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | D396 | KFSRSDHLKTH | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | D429 | KFARSDELVRH | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | E430 | FARSDELVRHH | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | F323 | SEKRPFMCAYP | 2 | Homo sapiens, Rattus norvegicus | F323 | NEKRPFMCAYP | 1 | Xenopus tropicalis | F364 | DCERRFSRSDQ | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | F383 | TGVKPFQCKTC | 2 | Homo sapiens, Rattus norvegicus | F383 | TGIKPFQCKTC | 1 | Xenopus tropicalis | F414 | TSEKPFSCRWP | 1 | Homo sapiens | F414 | --EKPFSCRWP | 1 | Xenopus tropicalis | F414 | TSEKPFSCRWH | 1 | Rattus norvegicus | F425 | SCQKKFARSDE | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | G349 | SRKHTGEKPYQ | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | H343 | SHLQMHSRKHT | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | H347 | MHSRKHTGEKP | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | H373 | DQLKRHQRRHT | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | H377 | RHQRRHTGVKP | 2 | Homo sapiens, Rattus norvegicus | H377 | RHQRRHTGIKP | 1 | Xenopus tropicalis | H397 | FSRSDHLKTHT | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | H401 | DHLKTHTRTHT | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | K351 | KHTGEKPYQCD | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | K371 | RSDQLKRHQRR | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | K381 | RHTGVKPFQCK | 2 | Homo sapiens, Rattus norvegicus | K381 | RHTGIKPFQCK | 1 | Xenopus tropicalis | K399 | RSDHLKTHTRT | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | K412 | GKTSEKPFSCR | 2 | Homo sapiens, Rattus norvegicus | K412 | G---EKPFSCR | 1 | Xenopus tropicalis | L337 | KRYFKLSHLQM | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | L340 | FKLSHLQMHSR | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | M324 | EKRPFMCAYPG | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | M342 | LSHLQMHSRKH | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | P328 | FMCAYPGCNKR | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | Q341 | KLSHLQMHSRK | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | Q369 | FSRSDQLKRHQ | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | R345 | LQMHSRKHTGE | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | R362 | FKDCERRFSRS | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | R366 | ERRFSRSDQLK | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | R372 | SDQLKRHQRRH | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | R376 | KRHQRRHTGVK | 2 | Homo sapiens, Rattus norvegicus | R376 | KRHQRRHTGIK | 1 | Xenopus tropicalis | R390 | CKTCQRKFSRS | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | R394 | QRKFSRSDHLK | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | R427 | QKKFARSDELV | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | R433 | SDELVRHHNMH | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | S344 | HLQMHSRKHTG | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | S367 | RRFSRSDQLKR | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | S393 | CQRKFSRSDHL | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | S395 | RKFSRSDHLKT | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | S428 | KKFARSDELVR | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | T348 | HSRKHTGEKPY | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | V432 | RSDELVRHHNM | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | Y327 | PFMCAYPGCNK | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus | Y353 | TGEKPYQCDFK | 3 | Homo sapiens, Xenopus tropicalis, Rattus norvegicus |
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