| Variant ID | 29181 |
|---|---|
| Entrez Gene ID | 56907 |
| Gene | SPIRE1 (GeneCards) |
| Location | hg19 18:12496079-12496079
hg38 18:12496080-12496080 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000018.9:g.12496079 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 | NA |
| mRNA length | NA |
| Reference length | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003234 |
|---|---|
| EIGEN score | 0.7005 |
| CADD Raw score (version 1.3) | 7.633293 (Deleterious) |
| FATHMM raw prediction score | 0.9651 (Tolerated) |
| SIFT score | 0.007 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.65 (Deleterious) |
| PROVEAN score | -3.14 (Deleterious) |
| MetaSVM score | -0.532 (Tolerated) |
| MetaLR score | 0.301 (Tolerated) |
| MCAP score | 0.035 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.75 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.45 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.96 |
| Deleterious probability by iFish2 | 0.0343 (Neutral) |
| Deleterious probability by DeFine | 0.9348 (Deleterious) |
| Entrez Gene ID | 56907 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPIRE1 (GeneCards) |
| Number of variants in SPIRE1 in this database | 2 (view all the variants) |
| Full name | spire type actin nucleation factor 1 |
| Band | 18p11.21 |
| Other IDs | Vega: OTTHUMG00000153940 OMIM: 609216 HGNC: HGNC:30622 Ensembl: ENSG00000134278 |
| Other names | Spir-1 |
| Summary | Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008] |
| Individual ID | 28503910.58 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |