| Variant ID | 29714 |
|---|---|
| Entrez Gene ID | 9557 |
| Gene | CHD1L (GeneCards) |
| Location | hg19 1:146728216-146728216
hg38 1:147256562-147256562 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.146728216 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5480871 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | -0.15 |
| CADD Raw score (version 1.3) | 3.567065 (Deleterious) |
| FATHMM raw prediction score | 0.85601 (Tolerated) |
| SIFT score | 0.249 (Tolerated) |
| LRT score | 0.004 (Tolerated) |
| MutationTaster score | 0.997 (Deleterious) |
| MutatioinAssessor score | 1.135 (Tolerated) |
| PROVEAN score | -2.18 (Tolerated) |
| MetaSVM score | 0.131 (Deleterious) |
| MetaLR score | 0.511 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.93 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.504 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.982 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.117 |
| Deleterious probability by iFish2 | 0.056 (Neutral) |
| Deleterious probability by DeFine | 0.7393 (Deleterious) |
| Entrez Gene ID | 9557 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHD1L (GeneCards) |
| Number of variants in CHD1L in this database | 1 (view all the variants) |
| Full name | chromodomain helicase DNA binding protein 1 like |
| Band | 1q21.1 |
| Other IDs | Vega: OTTHUMG00000150271 OMIM: 613039 HGNC: HGNC:1916 Ensembl: ENSG00000131778 |
| Other names | ALC1, CHDL |
| Summary | This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017] |
| Individual ID | 28867142.13 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |