chr3:189349178:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:189,349,178-189,615,065 |
| hg38 | chr3:189,631,389-189,897,276 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.156 | squamous cell carcinoma | The most frequent gain was located on 3q26-29 including the gene TP63 in SCCs an... | BeFree,CTD_human,LHGDN | 26003479 | Detail |
| 0.156 | squamous cell carcinoma | Finally, analysis of samples from patients with squamous cell carcinoma (SCC), b... | BeFree,CTD_human,LHGDN | 26068789 | Detail |
| 0.005 | Carcinoma, Transitional Cell | NA | LHGDN | Detail | |
| 0.120 | Neoplastic Cell Transformation | NA | CTD_human | Detail | |
| <0.001 | Uterine Cervical Neoplasm | NA | BeFree | Detail | |
| <0.001 | Developmental Disabilities | NA | BeFree | Detail | |
| <0.001 | chondroblastoma | NA | BeFree | Detail | |
| 0.003 | choriocarcinoma | NA | LHGDN | Detail | |
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| 0.128 | cleft lip | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.126 | cleft palate | NA | BeFree,CTD_human,GAD | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.123 | Colorectal Neoplasms | NA | CTD_human,LHGDN | Detail | |
| <0.001 | Crohn Disease | NA | BeFree | Detail | |
| 0.004 | adenoid cystic carcinoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | Dermatitis, Atopic | NA | BeFree | Detail | |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree | Detail | |
| <0.001 | echinococcosis | NA | BeFree | Detail | |
| 0.021 | ectodermal dysplasia | Heterozygous mutations in TP63 gene have been associated with human ectodermal d... | BeFree,GAD,LHGDN | 26408908 | Detail |
| <0.001 | Eczema | NA | BeFree | Detail | |
| <0.001 | Experimental Autoimmune Encephalomyelitis | NA | BeFree | Detail | |
| 0.003 | Yolk Sac Tumor | NA | LHGDN | Detail | |
| 0.003 | Eosinophilia | NA | LHGDN | Detail | |
| <0.001 | epilepsy | The disruption of Nav β1 AIS expression by a human epilepsy-causing C121W geneti... | BeFree | 25421039 | Detail |
| <0.001 | Esophageal Neoplasms | NA | BeFree | Detail | |
| 0.121 | Congenital Foot Deformity | NA | BeFree,CTD_human | Detail | |
| 0.080 | gastroesophageal reflux disease | NA | MGD | Detail | |
| <0.001 | Giant Cell Tumors | NA | BeFree | Detail | |
| 0.003 | Giant Cell Granuloma | NA | LHGDN | Detail | |
| <0.001 | gynecomastia | NA | BeFree | Detail | |
| 0.120 | Congenital Hand Deformities | NA | BeFree,CTD_human | Detail | |
| <0.001 | obesity | As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S... | BeFree | 24780838 | Detail |
| 0.002 | HIV Infections | NA | BeFree | Detail | |
| 0.003 | Hyperplasia | NA | LHGDN | Detail | |
| <0.001 | male infertility | Different mutations in AIS generally cause variable phenotypes that range from a... | BeFree | 25401426 | Detail |
| <0.001 | Inflammatory Bowel Diseases | NA | BeFree | Detail | |
| <0.001 | influenza | Quiescent LNEPs activate a ΔNp63 (a p63 splice variant) and cytokeratin 5 remode... | BeFree | 25533958 | Detail |
| 0.003 | Keloid | NA | BeFree,LHGDN | Detail | |
| <0.001 | keratitis | NA | BeFree | Detail | |
| <0.001 | keratoconjunctivitis sicca | NA | BeFree | Detail | |
| <0.001 | actinic keratosis | NA | BeFree | Detail | |
| <0.001 | seborrheic keratosis | NA | BeFree | Detail | |
| <0.001 | Fibroid Tumor | NA | BeFree | Detail | |
| <0.001 | leiomyosarcoma | Thus, we investigated the expression of members of the VEGF receptor (VEGFR) fam... | BeFree | 25340839 | Detail |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| 0.120 | Leukemia, Lymphocytic, Acute, L1 | NA | GWASCAT | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.125 | Lung Neoplasms | NA | CTD_human,GAD | Detail | |
| <0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
| 0.001 | lymphoma | These generalisations do not apply universally; TAp63 is overexpressed in haemat... | BeFree | 25510918 | Detail |
| <0.001 | Lymphoma, Follicular | NA | BeFree | Detail | |
| <0.001 | malaria | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| 0.003 | meningioma | NA | LHGDN | Detail | |
| 0.003 | Mesothelioma | NA | LHGDN | Detail | |
| <0.001 | mitral valve stenosis | NA | BeFree | Detail | |
| <0.001 | multiple sclerosis | NA | BeFree | Detail | |
| <0.001 | Mycobacterium Infections | NA | BeFree | Detail | |
| <0.001 | mycosis fungoides | NA | BeFree | Detail | |
| <0.001 | myoepithelioma | The majority of myoepithelial neoplasms typically coexpress epithelial antigens ... | BeFree | 25804378 | Detail |
| 0.124 | Neoplasm Metastasis | ΔNP63α, the predominant TP63 isoform expressed in diverse epithelial tissues, in... | BeFree,CTD_human | 25376609 | Detail |
| <0.001 | nephroblastoma | NA | BeFree | Detail | |
| 0.001 | neuroblastoma | NA | BeFree | Detail | |
| <0.001 | osteoblastoma | NA | BeFree | Detail | |
| <0.001 | osteosarcoma | The expression levels of p63 isoforms in osteosarcoma cell lines were identified... | BeFree | 25085524 | Detail |
| 0.002 | ovarian carcinoma | NA | BeFree | Detail | |
| <0.001 | Pituitary Neoplasms | NA | BeFree | Detail | |
| 0.086 | Prostatic Neoplasms | NA | BeFree,CTD_mouse,LHGDN | Detail | |
| 0.004 | psoriasis | NA | BeFree,LHGDN | Detail | |
| <0.001 | Salivary Gland Neoplasms | NA | BeFree | Detail | |
| 0.003 | seminoma | NA | LHGDN | Detail | |
| 0.120 | Skin Abnormalities | NA | CTD_human | Detail | |
| <0.001 | Dermatologic disorders | NA | BeFree | Detail | |
| <0.001 | Soft Tissue Neoplasms | NA | BeFree | Detail | |
| <0.001 | aphthous stomatitis | NA | BeFree | Detail | |
| <0.001 | ulcerative stomatitis | NA | BeFree | Detail | |
| 0.120 | Sweat Gland Neoplasms | NA | CTD_human | Detail | |
| <0.001 | syndactyly | NA | BeFree | Detail | |
| <0.001 | teratoma | NA | BeFree | Detail | |
| 0.003 | thymoma | NA | LHGDN | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | tuberculosis | NA | BeFree | Detail | |
| <0.001 | Uterine Fibroids | NA | BeFree | Detail | |
| <0.001 | Virilism | NA | BeFree | Detail | |
| 0.001 | B-Cell Lymphomas | NA | BeFree | Detail | |
| <0.001 | Lymphoma, T-Cell, Cutaneous | NA | BeFree | Detail | |
| <0.001 | peripheral T-cell lymphoma | Our group recently identified novel chromosomal rearrangements involving TP63 in... | BeFree | 25189640 | Detail |
| <0.001 | Pleural Effusion, Malignant | NA | BeFree | Detail | |
| <0.001 | Familial benign pemphigus | Moreover, the abnormal expression of p63 and IRF6 appears to be related to SPCA1... | BeFree | 25256005 | Detail |
| <0.001 | Adenosis of Breast | NA | BeFree | Detail | |
| <0.001 | Epstein-Barr Virus Infections | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Small cell carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Atrophic condition of skin | NA | BeFree | Detail | |
| <0.001 | Acquired porencephaly | NA | BeFree | Detail | |
| 0.242 | Adenocarcinoma of lung (disorder) | Chromosomal rearrangements and copy number abnormalities of TP63 correlate with ... | BeFree,CTD_human,GWASCAT | 25189640 | Detail |
| 0.242 | Adenocarcinoma of lung (disorder) | These generalisations do not apply universally; TAp63 is overexpressed in haemat... | BeFree,CTD_human,GWASCAT | 25510918 | Detail |
| <0.001 | esophageal carcinoma | NA | BeFree | Detail | |
| <0.001 | Bone Cysts, Aneurysmal | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of mouth | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of testis | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of lung | Mammary tumors from mice fed a soy diet more frequently expressed metaplastic ma... | BeFree | 25655427 | Detail |
| <0.001 | allergic asthma | NA | BeFree | Detail | |
| 0.003 | Cleft palate with cleft lip | NA | BeFree | Detail | |
| <0.001 | Hidrotic Ectodermal Dysplasia | NA | BeFree | Detail | |
| 0.003 | Cicatrix, Hypertrophic | NA | BeFree,LHGDN | Detail | |
| 0.002 | Tumor Progression | The microRNA feedback regulation of p63 in cancer progression. | BeFree | 25726529 | Detail |
| 0.002 | Tumor Progression | In parallel, although the tumor-suppressor p53 acts as the first barrier against... | BeFree | 26032560 | Detail |
| <0.001 | Undifferentiated carcinoma | NA | BeFree | Detail | |
| 0.001 | Lichen Planus, Oral | NA | BeFree | Detail | |
| <0.001 | Ki-1+ Anaplastic Large Cell Lymphoma | However, emerging data now highlight that ALK- ALCL is genetically and clinicall... | BeFree | 25869285 | Detail |
| <0.001 | adenosquamous carcinoma | NA | BeFree | Detail | |
| 0.003 | Giant Cell Tumor of Bone | NA | BeFree,LHGDN | Detail | |
| <0.001 | Fibroadenoma | NA | BeFree | Detail | |
| <0.001 | smooth muscle tumor | NA | BeFree | Detail | |
| 0.003 | embryonal carcinoma | NA | LHGDN | Detail | |
| <0.001 | teratocarcinoma | NA | BeFree | Detail | |
| <0.001 | Trophoblastic Tumor, Placental Site | These cells were positive for cytokeratin, human placental lactogen and inhibin,... | BeFree | 26277672 | Detail |
| 0.003 | Adenoma, Villous | NA | LHGDN | Detail | |
| 0.006 | mucoepidermoid carcinoma | NA | BeFree,LHGDN | Detail | |
| 0.003 | Carcinoma, Large Cell | NA | LHGDN | Detail | |
| <0.001 | verrucous carcinoma | NA | BeFree | Detail | |
| 0.123 | Squamous Cell Neoplasms | NA | CTD_human,LHGDN | Detail | |
| <0.001 | Neuroendocrine Tumors | NA | BeFree | Detail | |
| 0.121 | Limb Deformities, Congenital | NA | BeFree,CTD_human | Detail | |
| <0.001 | Lip and oral cavity carcinoma | NA | BeFree | Detail | |
| <0.001 | Comedone | NA | BeFree | Detail | |
| <0.001 | Pseudolymphoma | NA | BeFree | Detail | |
| <0.001 | Memory impairment | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| 0.001 | Gastrointestinal Stromal Tumors | NA | BeFree | Detail | |
| <0.001 | Papillary thyroid carcinoma | In immunohistochemical studies, DSVPTC showed different expression patterns of e... | BeFree | 25577570 | Detail |
| <0.001 | Deformity of limb | NA | BeFree | Detail | |
| <0.001 | Superficial ulcer of skin (disorder) | NA | BeFree | Detail | |
| 0.125 | Malignant neoplasm of lung | Among 16 SNPs, three SNPs (colony-stimulating factor 1 receptor [CSF1R] rs100792... | BeFree,GAD,GWASCAT | 25144241 | Detail |
| 0.125 | Malignant neoplasm of lung | Our observations provide evidence that genetic variation in HLA Class II and TP6... | BeFree,GAD,GWASCAT | 25566987 | Detail |
| <0.001 | Psoriasis vulgaris | NA | BeFree | Detail | |
| 0.126 | Ectrodactyly | NA | BeFree,ORPHANET | Detail | |
| <0.001 | Verruca plana | NA | BeFree | Detail | |
| <0.001 | inflammatory breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of esophagus | NA | BeFree | Detail | |
| <0.001 | gallbladder adenocarcinoma | Expression of cell cycle-related proteins, p16, p53 and p63 as important prognos... | BeFree | 24178677 | Detail |
| <0.001 | cervical squamous cell carcinoma | Immunohistochemistry showed that SOX2 and TP63 proteins clearly delineated tumou... | BeFree | 25531390 | Detail |
| <0.001 | laryngeal squamous cell carcinoma | NA | BeFree | Detail | |
| 0.080 | Prostatic Intraepithelial Neoplasias | NA | CTD_mouse | Detail | |
| 0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | High-Grade Squamous Intraepithelial Lesions | NA | BeFree | Detail | |
| 0.003 | Ankyloblepharon | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| 0.003 | Arrhythmogenic Right Ventricular Dysplasia | NA | BeFree,LHGDN | Detail | |
| <0.001 | Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | NA | BeFree | Detail | |
| <0.001 | Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
| 0.120 | Craniofacial Abnormalities | NA | BeFree,CTD_human | Detail | |
| <0.001 | cardiac sarcoidosis | NA | BeFree | Detail | |
| <0.001 | Poikiloderma of Kindler | NA | BeFree | Detail | |
| 0.247 | Rudiger syndrome 1 | NA | BeFree,CTD_human,ORPHANET | Detail | |
| 0.447 | Hay-Wells syndrome | Mutations in TP63, a gene that encodes key regulators of epidermal development, ... | BeFree,CLINVAR,CTD_human,MGD,UNIPROT | 24665072 | Detail |
| <0.001 | Adolescent idiopathic scoliosis | This study explores the transcriptional profile of TGF-βs, TGFBRs, and TGF-β res... | BeFree | 25313366 | Detail |
| <0.001 | Split foot | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of liver | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
| <0.001 | Recurrent Carcinoma | NA | BeFree | Detail | |
| <0.001 | Thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of skin | NA | BeFree | Detail | |
| <0.001 | Congenital scoliosis | NA | BeFree | Detail | |
| <0.001 | Minor oral aphthous ulceration | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of mouth | NA | BeFree | Detail | |
| <0.001 | Osteosarcoma of bone | The expression levels of p63 isoforms in osteosarcoma cell lines were identified... | BeFree | 25085524 | Detail |
| <0.001 | Carcinoma of larynx | NA | BeFree | Detail | |
| 0.014 | Carcinogenesis | Although TP53 is a well-known tumor suppressor gene, the role of p63 in tumorige... | BeFree | 25189640 | Detail |
| 0.014 | Carcinogenesis | ΔNP63α, the predominant TP63 isoform expressed in diverse epithelial tissues, in... | BeFree | 25376609 | Detail |
| 0.002 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | invasive cancer | NA | BeFree | Detail | |
| 0.004 | breast carcinoma | NA | BeFree | Detail | |
| 0.003 | Carcinoma of lung | Among 16 SNPs, three SNPs (colony-stimulating factor 1 receptor [CSF1R] rs100792... | BeFree | 25144241 | Detail |
| 0.003 | Carcinoma of lung | Our observations provide evidence that genetic variation in HLA Class II and TP6... | BeFree | 25566987 | Detail |
| <0.001 | Cleft face | NA | BeFree | Detail | |
| 0.001 | Secondary malignant neoplasm of lymph node | Cytoplasmic/membranous expression of IL-23 (p19 and p40 subunits) and IL-23R, re... | BeFree | 25015728 | Detail |
| 0.002 | Carcinoma of bladder | NA | BeFree | Detail | |
| 0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Testicular malignant germ cell tumor | NA | BeFree | Detail | |
| 0.126 | ovarian neoplasm | NA | BeFree,CTD_human,LHGDN | Detail | |
| <0.001 | Testicular Feminization | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| 0.005 | Squamous cell carcinoma of the head and neck | We confirmed TP63 as having dominant expression of the short DeltaNp63 isoform i... | BeFree | 24675808 | Detail |
| 0.006 | Ductal Carcinoma | NA | BeFree,LHGDN | Detail | |
| 0.001 | sarcoma | NA | BeFree | Detail | |
| <0.001 | large cell neuroendocrine carcinoma | NA | BeFree | Detail | |
| <0.001 | Metaplastic carcinoma | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of large intestine | NA | BeFree | Detail | |
| <0.001 | B-Cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-Cell Lymphoma and Classical Hodgkin Lymphoma | NA | BeFree | Detail | |
| <0.001 | pulmonary sclerosing hemangioma | The significance of p40 expression in sclerosing hemangioma of lung. | BeFree | 25130377 | Detail |
| <0.001 | Epithelioma | NA | BeFree | Detail | |
| <0.001 | Mammary Neoplasms | Mammary tumors from mice fed a soy diet more frequently expressed metaplastic ma... | BeFree | 25655427 | Detail |
| <0.001 | Hepatocarcinogenesis | NA | BeFree | Detail | |
| <0.001 | Malignant Conversion | NA | BeFree | Detail | |
| <0.001 | Skin Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| 0.002 | Glomerular filtration rate finding | NA | GAD | Detail | |
| <0.001 | Limbal stem cell deficiency | NA | BeFree | Detail | |
| <0.001 | NUT midline carcinoma | Megadomain locations are typically cell lineage-specific; however, the cMYC and ... | BeFree | 26220994 | Detail |
| <0.001 | Non-Neoplastic Disorder | NA | BeFree | Detail | |
| 0.120 | Female Urogenital Diseases | NA | CTD_human | Detail | |
| 0.003 | Idiopathic Pulmonary Fibrosis | NA | BeFree,LHGDN | Detail | |
| <0.001 | Cleft lip, isolated | NA | BeFree | Detail | |
| <0.001 | lateral meningocele syndrome | NA | BeFree | Detail | |
| <0.001 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 | NA | BeFree | Detail | |
| <0.001 | PORENCEPHALY, FAMILIAL | NA | BeFree | Detail | |
| 0.002 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | GAD | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| 0.008 | Split-Hand/Foot Malformation | NA | BeFree | Detail | |
| 0.006 | Split hand foot deformity 1 | NA | BeFree | Detail | |
| <0.001 | Nasopharyngeal carcinoma | NA | BeFree | Detail | |
| <0.001 | Cervical Intraepithelial Neoplasia Grade 2/3 | NA | BeFree | Detail | |
| <0.001 | Proliferative Inflammatory Atrophy | NA | BeFree | Detail | |
| <0.001 | Triple Negative Breast Neoplasms | NA | BeFree | Detail | |
| <0.001 | Experimental Organism Basal Cell Carcinoma | Finally, analysis of samples from patients with squamous cell carcinoma (SCC), b... | BeFree | 26068789 | Detail |
| 0.002 | Congenital Abnormality | NA | BeFree | Detail | |
| <0.001 | achondroplasia | NA | BeFree | Detail | |
| 0.140 | adenocarcinoma | Immunohistochemistry for p63 was not specific for this rearrangement, as nearly ... | BeFree,CTD_human,GAD,LHGDN | 25189640 | Detail |
| 0.140 | adenocarcinoma | The most frequent gain was located on 3q26-29 including the gene TP63 in SCCs an... | BeFree,CTD_human,GAD,LHGDN | 26003479 | Detail |
| <0.001 | amelogenesis imperfecta | NA | BeFree | Detail | |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | asthma | NA | BeFree | Detail | |
| <0.001 | Ataxia | NA | BeFree | Detail | |
| 0.003 | Barrett esophagus | NA | BeFree,LHGDN | Detail | |
| <0.001 | Basal Cell Nevus Syndrome | NA | BeFree | Detail | |
| 0.011 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| 0.201 | bladder exstrophy | NA | BeFree,MGD,ORPHANET | Detail | |
| 0.013 | Bladder Neoplasm | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| 0.120 | Breast Diseases | NA | CTD_human | Detail | |
| <0.001 | Malignant neoplasm of skin | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of thyroid | NA | BeFree | Detail | |
| 0.003 | basal cell carcinoma | NA | LHGDN | Detail | |
| 0.003 | Bronchioloalveolar Adenocarcinoma | NA | LHGDN | Detail | |
| <0.001 | Noninfiltrating Intraductal Carcinoma | NA | BeFree | Detail | |
| 0.003 | Merkel cell carcinoma | NA | BeFree,LHGDN | Detail | |
| 0.002 | Non-small cell lung carcinoma | NA | BeFree | Detail | |
| 0.003 | Carcinoma, Papillary | NA | BeFree,LHGDN | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The most frequent gain was located on 3q26-29 including the gene TP63 in SCCs and 7q11.23 and 7q36.3... | DisGeNET | Detail |
| Finally, analysis of samples from patients with squamous cell carcinoma (SCC), basal cell carcinoma ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Heterozygous mutations in TP63 gene have been associated with human ectodermal dysplasia disorders. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The disruption of Nav β1 AIS expression by a human epilepsy-causing C121W genetic mutation in Nav β1... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S, I69T, P78L, C84R, ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Different mutations in AIS generally cause variable phenotypes that range from a complete hormone re... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Quiescent LNEPs activate a ΔNp63 (a p63 splice variant) and cytokeratin 5 remodelling program after ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Thus, we investigated the expression of members of the VEGF receptor (VEGFR) family and correspondin... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These generalisations do not apply universally; TAp63 is overexpressed in haematological malignancie... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The majority of myoepithelial neoplasms typically coexpress epithelial antigens (cytokeratin and/or ... | DisGeNET | Detail |
| ΔNP63α, the predominant TP63 isoform expressed in diverse epithelial tissues, including the mammary ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The expression levels of p63 isoforms in osteosarcoma cell lines were identified using quantitative ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| Our group recently identified novel chromosomal rearrangements involving TP63 in approximately 6% of... | DisGeNET | Detail |
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| Moreover, the abnormal expression of p63 and IRF6 appears to be related to SPCA1 haploinsufficiency,... | DisGeNET | Detail |
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| Chromosomal rearrangements and copy number abnormalities of TP63 correlate with p63 protein expressi... | DisGeNET | Detail |
| These generalisations do not apply universally; TAp63 is overexpressed in haematological malignancie... | DisGeNET | Detail |
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| Mammary tumors from mice fed a soy diet more frequently expressed metaplastic markers such as cytoke... | DisGeNET | Detail |
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| The microRNA feedback regulation of p63 in cancer progression. | DisGeNET | Detail |
| In parallel, although the tumor-suppressor p53 acts as the first barrier against tumor transformatio... | DisGeNET | Detail |
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| However, emerging data now highlight that ALK- ALCL is genetically and clinically heterogeneous with... | DisGeNET | Detail |
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| These cells were positive for cytokeratin, human placental lactogen and inhibin, while negative for ... | DisGeNET | Detail |
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| In immunohistochemical studies, DSVPTC showed different expression patterns of epithelial membrane a... | DisGeNET | Detail |
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| Among 16 SNPs, three SNPs (colony-stimulating factor 1 receptor [CSF1R] rs10079250A>G, tumor protein... | DisGeNET | Detail |
| Our observations provide evidence that genetic variation in HLA Class II and TP63 may modify the ass... | DisGeNET | Detail |
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| Expression of cell cycle-related proteins, p16, p53 and p63 as important prognostic markers in gallb... | DisGeNET | Detail |
| Immunohistochemistry showed that SOX2 and TP63 proteins clearly delineated tumour cells in invasive ... | DisGeNET | Detail |
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| Mutations in TP63, a gene that encodes key regulators of epidermal development, are the genetic caus... | DisGeNET | Detail |
| This study explores the transcriptional profile of TGF-βs, TGFBRs, and TGF-β responsive genes in the... | DisGeNET | Detail |
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| The expression levels of p63 isoforms in osteosarcoma cell lines were identified using quantitative ... | DisGeNET | Detail |
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| Although TP53 is a well-known tumor suppressor gene, the role of p63 in tumorigenesis is controversi... | DisGeNET | Detail |
| ΔNP63α, the predominant TP63 isoform expressed in diverse epithelial tissues, including the mammary ... | DisGeNET | Detail |
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| Among 16 SNPs, three SNPs (colony-stimulating factor 1 receptor [CSF1R] rs10079250A>G, tumor protein... | DisGeNET | Detail |
| Our observations provide evidence that genetic variation in HLA Class II and TP63 may modify the ass... | DisGeNET | Detail |
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| Cytoplasmic/membranous expression of IL-23 (p19 and p40 subunits) and IL-23R, respectively were over... | DisGeNET | Detail |
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| We confirmed TP63 as having dominant expression of the short DeltaNp63 isoform in HNSCC tumor sample... | DisGeNET | Detail |
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| The significance of p40 expression in sclerosing hemangioma of lung. | DisGeNET | Detail |
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| Mammary tumors from mice fed a soy diet more frequently expressed metaplastic markers such as cytoke... | DisGeNET | Detail |
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| Megadomain locations are typically cell lineage-specific; however, the cMYC and TP63 regions are tar... | DisGeNET | Detail |
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| Finally, analysis of samples from patients with squamous cell carcinoma (SCC), basal cell carcinoma ... | DisGeNET | Detail |
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| Immunohistochemistry for p63 was not specific for this rearrangement, as nearly 33% of adenocarcinom... | DisGeNET | Detail |
| The most frequent gain was located on 3q26-29 including the gene TP63 in SCCs and 7q11.23 and 7q36.3... | DisGeNET | Detail |
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Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386563534 dbSNP
- Genome
- hg19
- Position
- chr3:189,349,178-189,615,065
- Variant Type
- snv
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