| Variant ID | 12705 |
|---|---|
| Entrez Gene ID | 23414 |
| Gene | ZFPM2 (GeneCards) |
| Location | hg19 8:106614911-106614911
hg38 8:105602683-105602683 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.106614911 T>C (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1799 |
| CADD Raw score (version 1.3) | 0.043111 (Deleterious) |
| FATHMM raw prediction score | 0.21571 (Tolerated) |
| Deleterious probability by DeFine | 0.6042 (Deleterious) |
| Entrez Gene ID | 23414 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZFPM2 (GeneCards) |
| Number of variants in ZFPM2 in this database | 6 (view all the variants) |
| Full name | zinc finger protein, FOG family member 2 |
| Band | 8q23.1 |
| Other IDs | Vega: OTTHUMG00000164818 OMIM: 603693 HGNC: HGNC:16700 Ensembl: ENSG00000169946 |
| Other names | DIH3, FOG2, SRXY9, ZNF89B, hFOG-2, ZC2HC11B |
| Summary | The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [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; |