| Variant ID | 29907 |
|---|---|
| Entrez Gene ID | 3607 |
| Gene | FOXK2 (GeneCards) |
| Location | hg19 17:80559225-80559225
hg38 17:82601349-82601349 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000017.10:g.80559225 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0.0003 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs151062508 |
| EIGEN score | -1.5095 |
| CADD Raw score (version 1.3) | 0.451807 (Deleterious) |
| FATHMM raw prediction score | 0.12294 (Tolerated) |
| Deleterious probability by DeFine | 0.9493 (Deleterious) |
| Entrez Gene ID | 3607 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FOXK2 (GeneCards) |
| Number of variants in FOXK2 in this database | 2 (view all the variants) |
| Full name | forkhead box K2 |
| Band | 17q25.3 |
| Other IDs | Vega: OTTHUMG00000140374 OMIM: 147685 HGNC: HGNC:6036 Ensembl: ENSG00000141568 |
| Other names | ILF, ILF1, ILF-1 |
| Summary | The protein encoded by this gene contains a fork head DNA binding domain. This protein can bind to the purine-rich motifs of the HIV long terminal repeat (LTR), and to the similar purine-rich motif in the interleukin 2 (IL2) promoter. It may be involved in the regulation of viral and cellular promoter elements. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |