| Variant ID | 4781 |
|---|---|
| Entrez Gene ID | 54986 |
| Gene | ULK4 (GeneCards) |
| Location | hg19 3:41654807-41654807
hg38 3:41613316-41613316 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.41654807 C>T (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4852 |
| CADD Raw score (version 1.3) | 1.921604 (Deleterious) |
| FATHMM raw prediction score | 0.29674 (Tolerated) |
| Deleterious probability by DeFine | 0.6411 (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 | 29217584.05 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |