| Variant ID | 29255 |
|---|---|
| Entrez Gene ID | 3098 |
| Gene | HK1 (GeneCards) |
| Location | hg19 10:71158430-71158430
hg38 10:69398674-69398674 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000010.10:g.71158430 G>A (Genome Assembly: GRCh37) |
| 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4015424 |
| Variant occurences in COSMIC | 1(stomach) |
| EIGEN score | 0.3931 |
| CADD Raw score (version 1.3) | 6.101554 (Deleterious) |
| FATHMM raw prediction score | 0.98473 (Tolerated) |
| SIFT score | 0.016 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.755 (Tolerated) |
| PROVEAN score | -0.67 (Tolerated) |
| MetaSVM score | 0.875 (Deleterious) |
| MetaLR score | 0.902 (Deleterious) |
| MCAP score | 0.086 (Deleterious) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.6 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.604 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.922 |
| Deleterious probability by iFish2 | 0.0065 (Neutral) |
| Deleterious probability by DeFine | 0.9714 (Deleterious) |
| Entrez Gene ID | 3098 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HK1 (GeneCards) |
| Number of variants in HK1 in this database | 2 (view all the variants) |
| Full name | hexokinase 1 |
| Band | 10q22.1 |
| Other IDs | Vega: OTTHUMG00000018380 OMIM: 142600 HGNC: HGNC:4922 Ensembl: ENSG00000156515 |
| Other names | HK, HKD, HKI, HXK1, RP79, HMSNR, HK1-ta, HK1-tb, HK1-tc, hexokinase |
| Summary | Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016] |
| Individual ID | 28503910.132 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |