Details for: WT1

Gene ID: 7490

Symbol: WT1

Ensembl ID: ENSG00000184937

Description: WT1 transcription factor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 57.7003
    Cell Significance Index: -8.9800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 35.4238
    Cell Significance Index: -8.9900
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 9.9845
    Cell Significance Index: 48.5600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 7.2793
    Cell Significance Index: -8.9800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 5.5960
    Cell Significance Index: 44.6800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 4.4649
    Cell Significance Index: 57.1800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 4.2472
    Cell Significance Index: 147.5900
  • Cell Name: peg cell (CL4033014)
    Fold Change: 3.5324
    Cell Significance Index: 81.6100
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 2.4660
    Cell Significance Index: 11.3900
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.1417
    Cell Significance Index: 30.0400
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 2.1355
    Cell Significance Index: 31.0100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.5548
    Cell Significance Index: 45.8000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.3909
    Cell Significance Index: 21.5200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.2794
    Cell Significance Index: -2.8000
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.0075
    Cell Significance Index: 11.0200
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.8886
    Cell Significance Index: 12.7800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.6876
    Cell Significance Index: 18.0800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5271
    Cell Significance Index: 72.3900
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.2957
    Cell Significance Index: 1.4800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.2302
    Cell Significance Index: 5.5800
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.2150
    Cell Significance Index: 1.8600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1383
    Cell Significance Index: 2.7000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0566
    Cell Significance Index: 3.6500
  • Cell Name: obsolete somatic cell (CL0002371)
    Fold Change: 0.0522
    Cell Significance Index: 0.4000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0253
    Cell Significance Index: 0.6300
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.0224
    Cell Significance Index: 0.1900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0010
    Cell Significance Index: -0.6600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0041
    Cell Significance Index: -7.7600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0059
    Cell Significance Index: -10.8100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0072
    Cell Significance Index: -11.1000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0081
    Cell Significance Index: -11.0200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0089
    Cell Significance Index: -6.5100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0096
    Cell Significance Index: -2.7600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0099
    Cell Significance Index: -6.2700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0124
    Cell Significance Index: -9.1800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0126
    Cell Significance Index: -9.5200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0166
    Cell Significance Index: -7.5300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0187
    Cell Significance Index: -10.5700
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0226
    Cell Significance Index: -0.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0249
    Cell Significance Index: -8.9200
  • Cell Name: stromal cell of endometrium (CL0002255)
    Fold Change: -0.0281
    Cell Significance Index: -0.4000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0352
    Cell Significance Index: -6.3400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0364
    Cell Significance Index: -7.3000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0394
    Cell Significance Index: -5.7200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0439
    Cell Significance Index: -8.7100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0459
    Cell Significance Index: -7.8500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0489
    Cell Significance Index: -10.3100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0528
    Cell Significance Index: -6.5000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0670
    Cell Significance Index: -6.8400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0754
    Cell Significance Index: -8.6400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0832
    Cell Significance Index: -6.5900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0887
    Cell Significance Index: -9.2400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0893
    Cell Significance Index: -1.8700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0947
    Cell Significance Index: -1.5900
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.0988
    Cell Significance Index: -0.6900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1056
    Cell Significance Index: -5.3400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1100
    Cell Significance Index: -6.7600
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1129
    Cell Significance Index: -2.8200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1460
    Cell Significance Index: -9.2000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1468
    Cell Significance Index: -6.9000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1491
    Cell Significance Index: -6.7600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1529
    Cell Significance Index: -10.2800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1597
    Cell Significance Index: -4.0800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1628
    Cell Significance Index: -1.7700
  • Cell Name: immature NK T cell (CL0000914)
    Fold Change: -0.1633
    Cell Significance Index: -2.0900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1641
    Cell Significance Index: -7.2600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1688
    Cell Significance Index: -4.3400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1747
    Cell Significance Index: -13.4100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1820
    Cell Significance Index: -5.0900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1839
    Cell Significance Index: -4.9200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1913
    Cell Significance Index: -2.7400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1965
    Cell Significance Index: -7.4400
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.2010
    Cell Significance Index: -1.9500
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.2066
    Cell Significance Index: -2.0300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2156
    Cell Significance Index: -11.2000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2256
    Cell Significance Index: -8.2800
  • Cell Name: podocyte (CL0000653)
    Fold Change: -0.2371
    Cell Significance Index: -2.7200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2393
    Cell Significance Index: -6.3900
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.2398
    Cell Significance Index: -3.3700
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.2475
    Cell Significance Index: -3.6200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2486
    Cell Significance Index: -8.7100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2491
    Cell Significance Index: -7.1400
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.2529
    Cell Significance Index: -2.9100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2616
    Cell Significance Index: -14.6800
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.2622
    Cell Significance Index: -3.0900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2719
    Cell Significance Index: -8.9000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2793
    Cell Significance Index: -8.9000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2910
    Cell Significance Index: -6.9800
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.2920
    Cell Significance Index: -3.6900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2978
    Cell Significance Index: -6.3700
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.3038
    Cell Significance Index: -3.3300
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.3059
    Cell Significance Index: -4.1600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3063
    Cell Significance Index: -14.2800
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.3134
    Cell Significance Index: -1.9200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3156
    Cell Significance Index: -6.9100
  • Cell Name: respiratory suprabasal cell (CL4033048)
    Fold Change: -0.3239
    Cell Significance Index: -2.9300
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.3271
    Cell Significance Index: -2.0400
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.3354
    Cell Significance Index: -4.0800
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: -0.3367
    Cell Significance Index: -4.2600
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.3373
    Cell Significance Index: -1.9800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Zinc finger domain:** WT1 contains a characteristic C2H2 zinc finger domain, which is essential for its DNA-binding activity and transcriptional regulation capabilities. 2. **Tissue-specific expression:** WT1 is predominantly expressed in the kidneys, gonads, and mesodermal tissues, suggesting its critical role in development and tissue homeostasis. 3. **Transcriptional regulation:** WT1 acts as a transcriptional activator or repressor, depending on the context, and regulates the expression of various target genes involved in cell growth, differentiation, and survival. **Pathways and Functions:** 1. **Developmental biology:** WT1 is essential for the development of the kidneys, gonads, and other mesodermal tissues. It regulates the expression of genes involved in cell growth, differentiation, and survival. 2. **Cell growth and differentiation:** WT1 promotes cell growth and differentiation by regulating the expression of genes involved in these processes. 3. **Apoptosis regulation:** WT1 negatively regulates apoptosis, which is essential for tissue homeostasis and development. 4. **Gene expression regulation:** WT1 regulates the expression of various genes involved in development, cell growth, and differentiation. **Clinical Significance:** 1. **Wilms tumor:** WT1 mutations are a hallmark of Wilms tumor, a childhood kidney cancer. 2. **Genitourinary anomalies:** WT1 mutations are also associated with genitourinary anomalies, such as renal agenesis and gonadal dysgenesis. 3. **Other diseases:** WT1 dysregulation has been implicated in various other diseases, including cancer, diabetes, and cardiovascular disease. 4. **Diagnostic and therapeutic applications:** WT1 is a valuable diagnostic marker for Wilms tumor and other diseases associated with WT1 dysregulation. Targeted therapies, such as WT1-specific antibodies, are being explored for the treatment of these diseases. **Significantly Expressed Cells:** 1. **Granulosa cell:** WT1 is highly expressed in granulosa cells, which are essential for ovarian function and development. 2. **Ovarian surface epithelial cell:** WT1 is also expressed in ovarian surface epithelial cells, which are involved in ovulation and fertilization. 3. **Endothelial cell:** WT1 is expressed in endothelial cells, which are essential for vascular development and function. 4. **Sertoli cell:** WT1 is expressed in Sertoli cells, which are critical for testicular development and function. In conclusion, the WT1 transcription factor is a master regulator of developmental biology and disease. Its dysregulation has been implicated in various diseases, including Wilms tumor and other genitourinary anomalies. Understanding the key characteristics, pathways, and functions of WT1 is essential for the development of diagnostic and therapeutic strategies for these diseases.

Genular Protein ID: 472267164

Symbol: WT1_HUMAN

Name: Wilms tumor protein

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2154702

Title: Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping.

PubMed ID: 2154702

DOI: 10.1038/343774a0

PubMed ID: 1658787

Title: Alternative splicing and genomic structure of the Wilms tumor gene WT1.

PubMed ID: 1658787

DOI: 10.1073/pnas.88.21.9618

PubMed ID: 1572653

Title: The genomic organization and expression of the WT1 gene.

PubMed ID: 1572653

DOI: 10.1016/0888-7543(92)90313-h

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2154335

Title: Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus.

PubMed ID: 2154335

DOI: 10.1016/0092-8674(90)90601-a

PubMed ID: 7862533

Title: High affinity binding sites for the Wilms' tumour suppressor protein WT1.

PubMed ID: 7862533

DOI: 10.1093/nar/23.2.277

PubMed ID: 1655284

Title: Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.

PubMed ID: 1655284

DOI: 10.1016/0092-8674(91)90194-4

PubMed ID: 1302008

Title: Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.

PubMed ID: 1302008

DOI: 10.1038/ng0592-144

PubMed ID: 1671709

Title: Isolation, characterization, and expression of the murine Wilms' tumor gene (WT1) during kidney development.

PubMed ID: 1671709

DOI: 10.1128/mcb.11.3.1707-1712.1991

PubMed ID: 7926762

Title: RNA editing in the Wilms' tumor susceptibility gene, WT1.

PubMed ID: 7926762

DOI: 10.1101/gad.8.6.720

PubMed ID: 8621495

Title: A non-AUG translational initiation event generates novel WT1 isoforms.

PubMed ID: 8621495

DOI: 10.1074/jbc.271.15.8646

PubMed ID: 11001926

Title: Identification of WTAP, a novel Wilms' tumour 1-associating protein.

PubMed ID: 11001926

DOI: 10.1093/oxfordjournals.hmg.a018914

PubMed ID: 12239212

Title: Inhibition of Wilms tumor 1 transactivation by bone marrow zinc finger 2, a novel transcriptional repressor.

PubMed ID: 12239212

DOI: 10.1074/jbc.m205667200

PubMed ID: 12970737

Title: Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1.

PubMed ID: 12970737

DOI: 10.1038/sj.onc.1206717

PubMed ID: 1313285

Title: WT1: a novel tumor suppressor gene inactivated in Wilms' tumor.

PubMed ID: 1313285

PubMed ID: 8393820

Title: The WT1 Wilms tumor gene product: a developmentally regulated transcription factor in the kidney that functions as a tumor suppressor.

PubMed ID: 8393820

DOI: 10.1096/fasebj.7.10.8393820

PubMed ID: 1654525

Title: WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour.

PubMed ID: 1654525

DOI: 10.1038/353431a0

PubMed ID: 17361230

Title: A tumor suppressor and oncogene: the WT1 story.

PubMed ID: 17361230

DOI: 10.1038/sj.leu.2404624

PubMed ID: 15520190

Title: SUMO-1 modification of the Wilms' tumor suppressor WT1.

PubMed ID: 15520190

DOI: 10.1158/0008-5472.can-04-1502

PubMed ID: 16934801

Title: WT1 interacts with the splicing protein RBM4 and regulates its ability to modulate alternative splicing in vivo.

PubMed ID: 16934801

DOI: 10.1016/j.yexcr.2006.07.008

PubMed ID: 19123921

Title: Contribution of individual amino acids to the RNA binding activity of the Wilms' tumor suppressor protein WT1.

PubMed ID: 19123921

DOI: 10.1021/bi801586a

PubMed ID: 19416806

Title: The tumor suppressor WTX shuttles to the nucleus and modulates WT1 activity.

PubMed ID: 19416806

DOI: 10.1073/pnas.0811349106

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 31375868

Title: The evolution of the 9aaTAD domain in Sp2 proteins: inactivation with valines and intron reservoirs.

PubMed ID: 31375868

DOI: 10.1007/s00018-019-03251-w

PubMed ID: 15518539

Title: Why zinc fingers prefer zinc: ligand-field symmetry and the hidden thermodynamics of metal ion selectivity.

PubMed ID: 15518539

DOI: 10.1021/bi0491999

PubMed ID: 17716689

Title: Structure of the Wilms tumor suppressor protein zinc finger domain bound to DNA.

PubMed ID: 17716689

DOI: 10.1016/j.jmb.2007.07.017

PubMed ID: 25258363

Title: Wilms tumor protein recognizes 5-carboxylcytosine within a specific DNA sequence.

PubMed ID: 25258363

DOI: 10.1101/gad.250746.114

PubMed ID: 1317572

Title: Zinc finger point mutations within the WT1 gene in Wilms tumor patients.

PubMed ID: 1317572

DOI: 10.1073/pnas.89.11.4791

PubMed ID: 1338906

Title: Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.

PubMed ID: 1338906

DOI: 10.1093/hmg/1.5.301

PubMed ID: 8388765

Title: Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.

PubMed ID: 8388765

DOI: 10.1093/hmg/2.3.259

PubMed ID: 8111391

Title: A novel zinc finger mutation in a patient with Denys-Drash syndrome.

PubMed ID: 8111391

DOI: 10.1093/hmg/2.12.2193

PubMed ID: 8295405

Title: Molecular analysis of two Japanese cases of Denys-Drash syndrome.

PubMed ID: 8295405

DOI: 10.1007/bf00714282

PubMed ID: 8411073

Title: Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalities.

PubMed ID: 8411073

DOI: 10.1136/jmg.30.9.767

PubMed ID: 8401592

Title: The Wilms tumour gene WT1 is expressed in murine mesoderm-derived tissues and mutated in a human mesothelioma.

PubMed ID: 8401592

DOI: 10.1038/ng0893-415

PubMed ID: 8112732

Title: WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin.

PubMed ID: 8112732

DOI: 10.1007/bf00210593

PubMed ID: 8741319

Title: A newly identified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome.

PubMed ID: 8741319

DOI: 10.1111/j.1442-200x.1996.tb03483.x

PubMed ID: 8956030

Title: A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome.

PubMed ID: 8956030

DOI: 10.1159/000154374

PubMed ID: 9108089

Title: Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.

PubMed ID: 9108089

DOI: 10.1073/pnas.94.8.3972

PubMed ID: 9529364

Title: Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.

PubMed ID: 9529364

DOI: 10.1086/301806

PubMed ID: 9475094

Title: Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?

PubMed ID: 9475094

DOI: 10.1136/jmg.35.1.45

PubMed ID: 9607189

Title: Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.

PubMed ID: 9607189

DOI: 10.1046/j.1523-1755.1998.00948.x

PubMed ID: 10571943

Title: Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.

PubMed ID: 10571943

DOI: 10.1002/(sici)1098-1004(199912)14:6<466::aid-humu4>3.0.co;2-6

PubMed ID: 10738002

Title: Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome.

PubMed ID: 10738002

DOI: 10.1002/(sici)1098-1004(200004)15:4<389::aid-humu29>3.0.co;2-e

PubMed ID: 11182928

Title: Constitutional WT1 correlate with clinical features in children with progressive nephropathy.

PubMed ID: 11182928

DOI: 10.1136/jmg.37.9.698

PubMed ID: 10799199

Title: A novel missense mutation of the WT1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations.

PubMed ID: 10799199

DOI: 10.1097/00005392-200006000-00052

PubMed ID: 11519891

Title: Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome.

PubMed ID: 11519891

DOI: 10.1007/s004670100626

PubMed ID: 15150775

Title: Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.

PubMed ID: 15150775

DOI: 10.1002/ajmg.a.30015

PubMed ID: 15266301

Title: Mutation analysis of five candidate genes in Chinese patients with hypospadias.

PubMed ID: 15266301

DOI: 10.1038/sj.ejhg.5201232

PubMed ID: 15253707

Title: Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.

PubMed ID: 15253707

DOI: 10.1111/j.1523-1755.2004.00775.x

PubMed ID: 15349765

Title: A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis.

PubMed ID: 15349765

DOI: 10.1007/s00467-004-1564-3

PubMed ID: 17853480

Title: WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations.

PubMed ID: 17853480

DOI: 10.1002/ajmg.a.31924

PubMed ID: 20798252

Title: Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

PubMed ID: 20798252

DOI: 10.2215/cjn.01190210

Sequence Information:

  • Length: 449
  • Mass: 49188
  • Checksum: 11C7FA3D485096B2
  • Sequence:
  • MGSDVRDLNA LLPAVPSLGG GGGCALPVSG AAQWAPVLDF APPGASAYGS LGGPAPPPAP 
    PPPPPPPPHS FIKQEPSWGG AEPHEEQCLS AFTVHFSGQF TGTAGACRYG PFGPPPPSQA 
    SSGQARMFPN APYLPSCLES QPAIRNQGYS TVTFDGTPSY GHTPSHHAAQ FPNHSFKHED 
    PMGQQGSLGE QQYSVPPPVY GCHTPTDSCT GSQALLLRTP YSSDNLYQMT SQLECMTWNQ 
    MNLGATLKGV AAGSSSSVKW TEGQSNHSTG YESDNHTTPI LCGAQYRIHT HGVFRGIQDV 
    RRVPGVAPTL VRSASETSEK RPFMCAYPGC NKRYFKLSHL QMHSRKHTGE KPYQCDFKDC 
    ERRFSRSDQL KRHQRRHTGV KPFQCKTCQR KFSRSDHLKT HTRTHTGKTS EKPFSCRWPS 
    CQKKFARSDE LVRHHNMHQR NMTKLQLAL

Genular Protein ID: 1945063687

Symbol: Q6PI38_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 331
  • Mass: 34592
  • Checksum: BA8AA8FA79475F68
  • Sequence:
  • GPRRLLAAIL DFLLLQDPAS TCVPEPASQH TLRSGPGCLQ QPEQQGVRDP GGIWAKLGAA 
    EASAERLQGR RSRGASGSEP QQMGSDVRDL NALLPAVPSL GGGGGCALPV SGAAQWAPVL 
    DFAPPGASAY GSLGGPAPPP APPPPPPPPP HSFIKQEPSW GGAEPHEEQC LSAFTVHFSG 
    QFTGTAGACR YGPFGPPPPS QASSGQARMF PNAPYLPSCL ESQPAIRNQG YSTVTFDGTP 
    SYGHTPSHHA AQFPNHSFKH EDPMGQQGSL GEQQYSVPPP VYGCHTPTDS CTGSQALLLR 
    TPYSSDNLYQ MTSQLECMTW NQMNLGATLK G

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.