| Variant ID | 29478 |
|---|---|
| Entrez Gene ID | 54986 |
| Gene | ULK4 (GeneCards) |
| Location | hg19 3:41961295-41961295
hg38 3:41919803-41919803 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000003.11:g.41961295 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.757 |
| CADD Raw score (version 1.3) | 1.272335 (Deleterious) |
| FATHMM raw prediction score | 0.08216 (Tolerated) |
| SIFT score | 0.469 (Tolerated) |
| LRT score | 0.908 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.13 (Tolerated) |
| PROVEAN score | -0.62 (Tolerated) |
| MetaSVM score | -0.941 (Tolerated) |
| MetaLR score | 0.161 (Tolerated) |
| MCAP score | 0.013 (Tolerated) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.54 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.067 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.025 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.986 |
| Deleterious probability by iFish2 | 0.6235 (Deleterious) |
| Deleterious probability by DeFine | 0.7565 (Deleterious) |
| Entrez Gene ID | 54986 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ULK4 (GeneCards) |
| Number of variants in ULK4 in this database | 15 (view all the variants) |
| Full name | unc-51 like kinase 4 |
| Band | 3p22.1 |
| Other IDs | Vega: OTTHUMG00000156210 OMIM: 617010 HGNC: HGNC:15784 Ensembl: ENSG00000168038 |
| Other names | FAM7C1, REC01035 |
| Summary | This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016] |
| Individual ID | 28714951.154 (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; |