| Variant ID | 29893 |
|---|---|
| Entrez Gene ID | 29066 |
| Gene | ZC3H7A (GeneCards) |
| Location | hg19 16:11876164-11876164
hg38 16:11782308-11782308 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000016.9:g.11876164 T>A (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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2797 |
| CADD Raw score (version 1.3) | 5.466323 (Deleterious) |
| FATHMM raw prediction score | 0.96543 (Tolerated) |
| SIFT score | 0.008 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.08 (Deleterious) |
| PROVEAN score | -2.42 (Tolerated) |
| MetaSVM score | -1.158 (Tolerated) |
| MetaLR score | 0.038 (Tolerated) |
| MCAP score | 0.019 (Tolerated) |
| FitCons score | 0.757 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.01 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.766 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.665 |
| Deleterious probability by iFish2 | 0.9057 (Deleterious) |
| Deleterious probability by DeFine | 0.929 (Deleterious) |
| Entrez Gene ID | 29066 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZC3H7A (GeneCards) |
| Number of variants in ZC3H7A in this database | 1 (view all the variants) |
| Full name | zinc finger CCCH-type containing 7A |
| Band | 16p13.13 |
| Other IDs | Vega: OTTHUMG00000129825 HGNC: HGNC:30959 Ensembl: ENSG00000122299 |
| Other names | ZC3H7, HSPC055, ZC3HDC7 |
| Summary | None |
| Individual ID | 28867142.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |