| Variant ID | 29717 |
|---|---|
| Entrez Gene ID | 89886 |
| Gene | SLAMF9 (GeneCards) |
| Location | hg19 1:159922117-159922117
hg38 1:159952327-159952327 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.159922117 C>T (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6754 |
| CADD Raw score (version 1.3) | 5.659054 (Deleterious) |
| FATHMM raw prediction score | 0.88309 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 3.59 (Deleterious) |
| PROVEAN score | -10.32 (Deleterious) |
| MetaSVM score | 1.009 (Deleterious) |
| MetaLR score | 0.899 (Deleterious) |
| MCAP score | 0.574 (Deleterious) |
| FitCons score | 0.447 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.655 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.8 |
| Deleterious probability by iFish2 | 0.9552 (Deleterious) |
| Deleterious probability by DeFine | 0.952 (Deleterious) |
| Entrez Gene ID | 89886 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLAMF9 (GeneCards) |
| Number of variants in SLAMF9 in this database | 1 (view all the variants) |
| Full name | SLAM family member 9 |
| Band | 1q23.2 |
| Other IDs | Vega: OTTHUMG00000024074 OMIM: 608589 HGNC: HGNC:18430 Ensembl: ENSG00000162723 |
| Other names | CD2F10, CD84H1, SF2001, CD2F-10, CD84-H1 |
| Summary | This gene encodes a member of the signaling lymphocytic activation molecule family. The encoded protein is a cell surface molecule that consists of two extracellular immunoglobulin domains, a transmembrane domain and a short cytoplasmic tail that lacks the signal transduction motifs found in other family members. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009] |
| Individual ID | 28867142.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |