| Variant ID | 1222 |
|---|---|
| Entrez Gene ID | 1106 |
| Gene | CHD2 (GeneCards) |
| Location | hg19 15:93467760-93467760
hg38 15:92924530-92924530 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000015.9:g.93467760 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 91 |
| Amino acid changes in protein | E > G |
| Position in cDNA | 272 |
| Changes in cDNA | A > G |
| mRNA accession | NM_001042572.2 |
| mRNA length | 2248 |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3402 |
| CADD Raw score (version 1.3) | 3.404579 (Deleterious) |
| FATHMM raw prediction score | 0.96637 (Tolerated) |
| SIFT score | 0.073 (Tolerated) |
| LRT score | 0.003 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.59 (Tolerated) |
| PROVEAN score | -1.47 (Tolerated) |
| MetaSVM score | 0.205 (Deleterious) |
| MetaLR score | 0.639 (Deleterious) |
| MCAP score | 0.095 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.82 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.471 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.533 |
| Deleterious probability by iFish2 | 0.9189 (Deleterious) |
| Deleterious probability by DeFine | 0.957 (Deleterious) |
| Entrez Gene ID | 1106 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHD2 (GeneCards) |
| Number of variants in CHD2 in this database | 8 (view all the variants) |
| Full name | chromodomain helicase DNA binding protein 2 |
| Band | 15q26.1 |
| Other IDs | Vega: OTTHUMG00000185958 OMIM: 602119 HGNC: HGNC:1917 Ensembl: ENSG00000173575 |
| Other names | EEOC |
| Summary | The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.01 (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; |