| Variant ID | 1064 |
|---|---|
| Entrez Gene ID | 50945 |
| Gene | TBX22 (GeneCards) |
| Location | hg19 X:79278675-79278675
hg38 X:80023176-80023176 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000023.10:g.79278675 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 98 |
| Amino acid changes in protein | G > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6879400 |
| Variant occurences in COSMIC | 1(skin) |
| CADD Raw score (version 1.3) | 5.557787 (Deleterious) |
| FATHMM raw prediction score | 0.98278 (Tolerated) |
| SIFT score | 0.032 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.73 (Deleterious) |
| PROVEAN score | -4.13 (Deleterious) |
| MetaSVM score | 0.657 (Deleterious) |
| MetaLR score | 0.814 (Deleterious) |
| MCAP score | 0.815 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.92 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.942 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.756 |
| Deleterious probability by iFish2 | 0.9874 (Deleterious) |
| Deleterious probability by DeFine | 0.9562 (Deleterious) |
| Entrez Gene ID | 50945 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TBX22 (GeneCards) |
| Number of variants in TBX22 in this database | 4 (view all the variants) |
| Full name | T-box 22 |
| Band | Xq21.1 |
| Other IDs | Vega: OTTHUMG00000021901 OMIM: 300307 HGNC: HGNC:11600 Ensembl: ENSG00000122145 |
| Other names | CPX, CLPA, TBXX, ABERS, dJ795G23.1 |
| Summary | This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |