| Variant ID | 29122 |
|---|---|
| Entrez Gene ID | 118429 |
| Gene | ANTXR2 (GeneCards) |
| Location | hg19 4:80954694-80954694
hg38 4:80033540-80033540 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | HiSeq Pyrosequencing |
| Mutation(HGVS format) | NC_000004.11:g.80954694 C>T (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5581 |
| CADD Raw score (version 1.3) | 6.409351 (Deleterious) |
| FATHMM raw prediction score | 0.85594 (Tolerated) |
| SIFT score | 0.014 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.974 (Deleterious) |
| MutatioinAssessor score | 2.71 (Deleterious) |
| PROVEAN score | -6.61 (Deleterious) |
| MetaSVM score | 0.634 (Deleterious) |
| MetaLR score | 0.745 (Deleterious) |
| MCAP score | 0.21 (Deleterious) |
| FitCons score | 0.744 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.83 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.341 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.007 |
| Deleterious probability by iFish2 | 0.1046 (Neutral) |
| Deleterious probability by DeFine | 0.9315 (Deleterious) |
| Entrez Gene ID | 118429 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ANTXR2 (GeneCards) |
| Number of variants in ANTXR2 in this database | 5 (view all the variants) |
| Full name | ANTXR cell adhesion molecule 2 |
| Band | 4q21.21 |
| Other IDs | Vega: OTTHUMG00000151982 OMIM: 608041 HGNC: HGNC:21732 Ensembl: ENSG00000163297 |
| Other names | HFS, ISH, JHF, CMG2, CMG-2 |
| Summary | This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] |
| Individual ID | 27632392.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27632392 |
| Whose mosaic mutation | 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 | 27632392 |
|---|---|
| Title | The Contribution of Mosaic Variants to Autism Spectrum Disorder |
| Journal | PLoS Genetics |
| Publication date | 2016.09 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 16; |