| Variant ID | 5300 |
|---|---|
| Entrez Gene ID | 253461 |
| Gene | ZBTB38 (GeneCards) |
| Location | hg19 3:141170662-141170662
hg38 3:141451820-141451820 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.141170662 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0454 |
| CADD Raw score (version 1.3) | 0.322139 (Deleterious) |
| FATHMM raw prediction score | 0.24935 (Tolerated) |
| Deleterious probability by DeFine | 0.3381 (Neutral) |
| Entrez Gene ID | 253461 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZBTB38 (GeneCards) |
| Number of variants in ZBTB38 in this database | 2 (view all the variants) |
| Full name | zinc finger and BTB domain containing 38 |
| Band | 3q23 |
| Other IDs | Vega: OTTHUMG00000160128 OMIM: 612218 HGNC: HGNC:26636 Ensembl: ENSG00000177311 |
| Other names | CIBZ, ZNF921, PPP1R171 |
| Summary | The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010] |
| Individual ID | 29217584.11 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |