| Variant ID | 109 |
|---|---|
| Entrez Gene ID | 8626 |
| Gene | TP63 (GeneCards) |
| Location | hg19 3:189612098-189612098
hg38 3:189894309-189894309 |
| Disease | Ankyloblepharon ectodermal defect cleft lip/palate syndrome (view all the variants in this disease) |
| Method | Sanger |
| Mutation(HGVS format) | NC_000003.11:g.189612098 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 13 |
| Position in protein | 523 |
| Amino acid changes in protein | L > P |
| Position in cDNA | 1568 |
| Changes in cDNA | T > C |
| mRNA accession | NM_001114980.1 |
| mRNA length | 1761 |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5909 |
| CADD Raw score (version 1.3) | 6.305977 (Deleterious) |
| FATHMM raw prediction score | 0.94225 (Tolerated) |
| SIFT score | 0.004 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.295 (Tolerated) |
| PROVEAN score | -1.48 (Tolerated) |
| MetaSVM score | 1.1 (Deleterious) |
| MetaLR score | 0.973 (Deleterious) |
| MCAP score | 0.423 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.9 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.525 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.513 |
| Deleterious probability by DeFine | 0.9546 (Deleterious) |
| Entrez Gene ID | 8626 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TP63 (GeneCards) |
| Number of variants in TP63 in this database | 20 (view all the variants) |
| Full name | tumor protein p63 |
| Band | 3q28 |
| Other IDs | Vega: OTTHUMG00000156313 OMIM: 603273 HGNC: HGNC:15979 Ensembl: ENSG00000073282 |
| Other names | AIS, KET, LMS, NBP, RHS, p40, p51, p63, EEC3, OFC8, p73H, p73L, SHFM4, TP53L, TP73L, p53CP, TP53CP, B(p51A), B(p51B) |
| Summary | This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016] |
| Individual ID | 22740388.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 22740388 |
| Whose mosaic mutation | Parent |
| Phenotype | 1 |
| Number of affected children | 2 ( female: 2; ) |
| Disease | Ankyloblepharon ectodermal defect cleft lip/palate syndrome (view all the variants in this disease) |
| OMIM ID | 106260 |
| Pubmed ID | 22740388 |
|---|---|
| Title | A Novel De Novo Missense Mutation in TP63 Underlying Germline Mosaicism in AEC Syndrome: Implications for Recurrence Risk and Prenatal Diagnosis |
| Journal | American Journal of Medical Genetics |
| Publication date | 2012.08 |
| Disease | Ankyloblepharon ectoderma defects cleft lip/palate syndrome |
| Number of cases | Male cases: 1; |