| Variant ID | 29406 |
|---|---|
| Entrez Gene ID | 8788 |
| Gene | DLK1 (GeneCards) |
| Location | hg19 14:101200880-101200880
hg38 14:100734543-100734543 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000014.8:g.101200880 C>T (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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003235 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3493799 |
| Variant occurences in COSMIC | 1(skin)|1(biliary_tract) |
| EIGEN score | 0.2754 |
| CADD Raw score (version 1.3) | 6.479619 (Deleterious) |
| FATHMM raw prediction score | 0.79821 (Tolerated) |
| SIFT score | 0.007 (Deleterious) |
| LRT score | 0.067 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.3 (Deleterious) |
| PROVEAN score | -1.1 (Tolerated) |
| MetaSVM score | 0.111 (Deleterious) |
| MetaLR score | 0.609 (Deleterious) |
| MCAP score | 0.277 (Deleterious) |
| FitCons score | 0.646 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.46 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.014 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.981 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.976 |
| Deleterious probability by iFish2 | 0.7332 (Deleterious) |
| Deleterious probability by DeFine | 0.9474 (Deleterious) |
| Entrez Gene ID | 8788 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DLK1 (GeneCards) |
| Number of variants in DLK1 in this database | 1 (view all the variants) |
| Full name | delta like non-canonical Notch ligand 1 |
| Band | 14q32.2 |
| Other IDs | Vega: OTTHUMG00000171600 OMIM: 176290 HGNC: HGNC:2907 Ensembl: ENSG00000185559 |
| Other names | DLK, FA1, ZOG, pG2, DLK-1, PREF1, Delta1, Pref-1 |
| Summary | This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015] |
| Individual ID | 28714951.82 (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; |