| Variant ID | 29608 |
|---|---|
| Entrez Gene ID | 8778 |
| Gene | SIGLEC5 (GeneCards) |
| Location | hg19 19:52133140-52133140
hg38 19:51629887-51629887 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.52133140 C>G (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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1283 |
| CADD Raw score (version 1.3) | 3.625455 (Deleterious) |
| FATHMM raw prediction score | 0.04461 (Tolerated) |
| SIFT score | 0.006 (Deleterious) |
| LRT score | 0.296 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.965 (Deleterious) |
| PROVEAN score | -5.03 (Deleterious) |
| MetaSVM score | -0.756 (Tolerated) |
| MetaLR score | 0.329 (Tolerated) |
| MCAP score | 0.021 (Tolerated) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.02 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.359 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.79 |
| Deleterious probability by iFish2 | 0.6016 (Deleterious) |
| Deleterious probability by DeFine | 0.8327 (Deleterious) |
| Entrez Gene ID | 8778 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SIGLEC5 (GeneCards) |
| Number of variants in SIGLEC5 in this database | 1 (view all the variants) |
| Full name | sialic acid binding Ig like lectin 5 |
| Band | 19q13.41 |
| Other IDs | Vega: OTTHUMG00000165510 OMIM: 604200 HGNC: HGNC:10874 Ensembl: ENSG00000105501 |
| Other names | CD170, OBBP2, CD33L2, OB-BP2, SIGLEC-5 |
| Summary | This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin (Siglec) family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. The encoded protein is a member of the CD33-related subset of Siglecs and inhibits the activation of several cell types including monocytes, macrophages and neutrophils. Binding of group B Streptococcus (GBS) to the encoded protein plays a role in GBS immune evasion. [provided by RefSeq, Feb 2012] |
| Individual ID | 28714951.284 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |