| Variant ID | 1585 |
|---|---|
| Entrez Gene ID | 7455 |
| Gene | ZAN (GeneCards) |
| Location | hg19 7:100385563-100385563
hg38 7:100787941-100787941 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | Hiseq |
| Mutation(HGVS format) | NC_000007.13:g.100385563 C>T (Genome Assembly: GRCh37) |
| 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 | NM_003386.2 |
| mRNA length | 8689 |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs113714278 |
| EIGEN score | 0.1297 |
| CADD Raw score (version 1.3) | 0.385643 (Deleterious) |
| FATHMM raw prediction score | 0.17993 (Tolerated) |
| Deleterious probability by DeFine | 0.6973 (Deleterious) |
| Entrez Gene ID | 7455 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZAN (GeneCards) |
| Number of variants in ZAN in this database | 2 (view all the variants) |
| Full name | zonadhesin (gene/pseudogene) |
| Band | 7q22.1 |
| Other IDs | Vega: OTTHUMG00000157037 OMIM: 602372 HGNC: HGNC:12857 Ensembl: ENSG00000146839 |
| Other names | None |
| Summary | This gene encodes a protein that functions in the species specificity of sperm adhesion to the egg zona pellucida. The encoded protein is located in the acrosome and may be involved in signaling or gamete recognition. An allelic polymorphism in this gene results in both functional and frameshifted alleles; the reference genome represents the functional allele. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015] |
| Individual ID | 28235832.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28235832 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28235832 |
|---|---|
| Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
| Journal | Genome Research |
| Publication date | 2017.04 |
| Disease | Autism Spectrum Disorders |
| Number of cases | Male cases: 3; cases of unknown sex: 1; |