| Variant ID | 29693 |
|---|---|
| Entrez Gene ID | 129446 |
| Gene | XIRP2 (GeneCards) |
| Location | hg19 2:168100145-168100145
hg38 2:167243635-167243635 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.168100145 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003234 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs199841320 |
| Variant IDs in COSMIC (version 89) | 286565 |
| Variant occurences in COSMIC | 2(stomach)|1(large_intestine)|1(endometrium) |
| EIGEN score | -1.0647 |
| CADD Raw score (version 1.3) | 0.475036 (Deleterious) |
| FATHMM raw prediction score | 0.05204 (Tolerated) |
| SIFT score | 0.396 (Tolerated) |
| LRT score | 0.052 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.895 (Tolerated) |
| PROVEAN score | -2.69 (Deleterious) |
| MetaSVM score | -0.95 (Tolerated) |
| MetaLR score | 0.007 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.21 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.404 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.063 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.427 |
| Deleterious probability by iFish2 | 0.0084 (Neutral) |
| Deleterious probability by DeFine | 0.505 (Deleterious) |
| Entrez Gene ID | 129446 (NCBI Gene) |
|---|---|
| Official Gene Symbol | XIRP2 (GeneCards) |
| Number of variants in XIRP2 in this database | 5 (view all the variants) |
| Full name | xin actin binding repeat containing 2 |
| Band | 2q24.3 |
| Other IDs | Vega: OTTHUMG00000154027 OMIM: 609778 HGNC: HGNC:14303 Ensembl: ENSG00000163092 |
| Other names | CMYA3 |
| Summary | None |
| Individual ID | 28714951.369 (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; |