| Variant ID | 29400 |
|---|---|
| Entrez Gene ID | 30811 |
| Gene | HUNK (GeneCards) |
| Location | hg19 21:33346895-33346895
hg38 21:31974583-31974583 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000021.8:g.33346895 G>A (Genome Assembly: hg19) |
| 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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006465 |
|---|---|
| EIGEN score | 0.3252 |
| CADD Raw score (version 1.3) | 3.842258 (Deleterious) |
| FATHMM raw prediction score | 0.93137 (Tolerated) |
| SIFT score | 0.146 (Tolerated) |
| LRT score | 0.001 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.895 (Tolerated) |
| PROVEAN score | -0.73 (Tolerated) |
| MetaSVM score | -0.655 (Tolerated) |
| MetaLR score | 0.219 (Tolerated) |
| MCAP score | 0.037 (Deleterious) |
| FitCons score | 0.625 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.51 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.707 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.805 |
| Deleterious probability by iFish2 | 0.5153 (Deleterious) |
| Deleterious probability by DeFine | 0.9727 (Deleterious) |
| Entrez Gene ID | 30811 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HUNK (GeneCards) |
| Number of variants in HUNK in this database | 2 (view all the variants) |
| Full name | hormonally up-regulated Neu-associated kinase |
| Band | 21q22.11 |
| Other IDs | Vega: OTTHUMG00000085019 OMIM: 606532 HGNC: HGNC:13326 Ensembl: ENSG00000142149 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.76 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |