| Variant ID | 29813 |
|---|---|
| Entrez Gene ID | 7791 |
| Gene | ZYX (GeneCards) |
| Location | hg19 7:143079777-143079777
hg38 7:143382684-143382684 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000007.13:g.143079777 G>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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4228 |
| CADD Raw score (version 1.3) | 4.451222 (Deleterious) |
| FATHMM raw prediction score | 0.41815 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0.253 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.43 (Deleterious) |
| PROVEAN score | -1.23 (Tolerated) |
| MetaSVM score | -0.545 (Tolerated) |
| MetaLR score | 0.289 (Tolerated) |
| MCAP score | 0.047 (Deleterious) |
| FitCons score | 0.767 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.66 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.989 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.588 |
| Deleterious probability by iFish2 | 0.4064 (Neutral) |
| Deleterious probability by DeFine | 0.9143 (Deleterious) |
| Entrez Gene ID | 7791 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ZYX (GeneCards) |
| Number of variants in ZYX in this database | 1 (view all the variants) |
| Full name | zyxin |
| Band | 7q34 |
| Other IDs | Vega: OTTHUMG00000023822 OMIM: 602002 HGNC: HGNC:13200 Ensembl: ENSG00000159840 |
| Other names | ESP-2, HED-2 |
| Summary | Focal adhesions are actin-rich structures that enable cells to adhere to the extracellular matrix and at which protein complexes involved in signal transduction assemble. Zyxin is a zinc-binding phosphoprotein that concentrates at focal adhesions and along the actin cytoskeleton. Zyxin has an N-terminal proline-rich domain and three LIM domains in its C-terminal half. The proline-rich domain may interact with SH3 domains of proteins involved in signal transduction pathways while the LIM domains are likely involved in protein-protein binding. Zyxin may function as a messenger in the signal transduction pathway that mediates adhesion-stimulated changes in gene expression and may modulate the cytoskeletal organization of actin bundles. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.52 (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; |