| Variant ID | 29999 |
|---|---|
| Entrez Gene ID | 25921 |
| Gene | ZDHHC5 (GeneCards) |
| Location | hg19 11:57466083-57466083
hg38 11:57698611-57698611 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000011.9:g.57466083 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 392 |
| Amino acid changes in protein | R > H |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_015457 |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.0003 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs149239636 |
| Variant IDs in COSMIC (version 89) | 928682 |
| Variant occurences in COSMIC | 1(endometrium) |
| EIGEN score | -0.0121 |
| CADD Raw score (version 1.3) | 2.65263 (Deleterious) |
| FATHMM raw prediction score | 0.92661 (Tolerated) |
| SIFT score | 0.067 (Tolerated) |
| LRT score | 0.014 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.655 (Tolerated) |
| PROVEAN score | -1.1 (Tolerated) |
| MetaSVM score | -0.579 (Tolerated) |
| MetaLR score | 0.318 (Tolerated) |
| MCAP score | 0.01 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.52 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.425 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.386 |
| Deleterious probability by iFish2 | 0.4999 (Deleterious) |
| Deleterious probability by DeFine | 0.9621 (Deleterious) |
| Entrez Gene ID | 25921 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZDHHC5 (GeneCards) |
| Number of variants in ZDHHC5 in this database | 1 (view all the variants) |
| Full name | zinc finger DHHC-type containing 5 |
| Band | 11q12.1 |
| Other IDs | Vega: OTTHUMG00000167198 OMIM: 614586 HGNC: HGNC:18472 Ensembl: ENSG00000156599 |
| Other names | DHHC5, ZNF375 |
| Summary | None |
| Individual ID | 28503910.223 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Father |
| Phenotype | 2 |
| Number of affected children | 1 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |