| Variant ID | 10141 |
|---|---|
| Entrez Gene ID | 7021 |
| Gene | TFAP2B (GeneCards) |
| Location | hg19 6:50794237-50794237
hg38 6:50826524-50826524 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.50794237 T>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.6794 |
| CADD Raw score (version 1.3) | 3.117748 (Deleterious) |
| FATHMM raw prediction score | 0.95132 (Tolerated) |
| Deleterious probability by DeFine | 0.9397 (Deleterious) |
| Entrez Gene ID | 7021 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TFAP2B (GeneCards) |
| Number of variants in TFAP2B in this database | 10 (view all the variants) |
| Full name | transcription factor AP-2 beta |
| Band | 6p12.3 |
| Other IDs | Vega: OTTHUMG00000014836 OMIM: 601601 HGNC: HGNC:11743 Ensembl: ENSG00000008196 |
| Other names | PDA2, AP-2B, AP2-B |
| Summary | This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |