| Variant ID | 29926 |
|---|---|
| Entrez Gene ID | 23211 |
| Gene | ZC3H4 (GeneCards) |
| Location | hg19 19:47584864-47584864
hg38 19:47081607-47081607 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000019.9:g.47584864 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6961 |
| CADD Raw score (version 1.3) | 5.083888 (Deleterious) |
| FATHMM raw prediction score | 0.9905 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.195 (Deleterious) |
| PROVEAN score | -4.68 (Deleterious) |
| MetaSVM score | -0.988 (Tolerated) |
| MetaLR score | 0.296 (Tolerated) |
| MCAP score | 0.02 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.72 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.201 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.974 |
| Deleterious probability by iFish2 | 0.9553 (Deleterious) |
| Deleterious probability by DeFine | 0.9651 (Deleterious) |
| Entrez Gene ID | 23211 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZC3H4 (GeneCards) |
| Number of variants in ZC3H4 in this database | 2 (view all the variants) |
| Full name | zinc finger CCCH-type containing 4 |
| Band | 19q13.32 |
| Other IDs | Vega: OTTHUMG00000183442 HGNC: HGNC:17808 Ensembl: ENSG00000130749 |
| Other names | C19orf7 |
| Summary | This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011] |
| Individual ID | 28867142.23 (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; |