| Variant ID | 29512 |
|---|---|
| Entrez Gene ID | 23072 |
| Gene | HECW1 (GeneCards) |
| Location | hg19 7:43540299-43540299
hg38 7:43500700-43500700 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000007.13:g.43540299 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003228 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5935281 |
| Variant occurences in COSMIC | 1(skin) |
| EIGEN score | 0.3371 |
| CADD Raw score (version 1.3) | 4.992753 (Deleterious) |
| FATHMM raw prediction score | 0.99063 (Tolerated) |
| SIFT score | 0.043 (Deleterious) |
| LRT score | 0.047 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.14 (Deleterious) |
| PROVEAN score | -3.68 (Deleterious) |
| MetaSVM score | -0.008 (Tolerated) |
| MetaLR score | 0.486 (Tolerated) |
| MCAP score | 0.091 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.05 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.985 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.03 |
| Deleterious probability by iFish2 | 0.9957 (Deleterious) |
| Deleterious probability by DeFine | 0.965 (Deleterious) |
| Entrez Gene ID | 23072 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HECW1 (GeneCards) |
| Number of variants in HECW1 in this database | 3 (view all the variants) |
| Full name | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 |
| Band | 7p14.1-p13 |
| Other IDs | Vega: OTTHUMG00000128917 OMIM: 610384 HGNC: HGNC:22195 Ensembl: ENSG00000002746 |
| Other names | NEDL1 |
| Summary | None |
| Individual ID | 28714951.188 (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; |