| Variant ID | 29182 |
|---|---|
| Entrez Gene ID | 25963 |
| Gene | TMEM87A (GeneCards) |
| Location | hg19 15:42528588-42528588
hg38 15:42236390-42236390 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000015.9:g.42528588 G>A (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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4968 |
| CADD Raw score (version 1.3) | 6.446382 (Deleterious) |
| FATHMM raw prediction score | 0.99158 (Tolerated) |
| SIFT score | 0.011 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.985 (Tolerated) |
| PROVEAN score | -2.52 (Deleterious) |
| MetaSVM score | -0.802 (Tolerated) |
| MetaLR score | 0.231 (Tolerated) |
| MCAP score | 0.019 (Tolerated) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.52 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.153 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.752 |
| Deleterious probability by iFish2 | 0.607 (Deleterious) |
| Deleterious probability by DeFine | 0.9492 (Deleterious) |
| Entrez Gene ID | 25963 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMEM87A (GeneCards) |
| Number of variants in TMEM87A in this database | 2 (view all the variants) |
| Full name | transmembrane protein 87A |
| Band | 15q15.1 |
| Other IDs | Vega: OTTHUMG00000172783 HGNC: HGNC:24522 Ensembl: ENSG00000103978 |
| Other names | None |
| Summary | None |
| Individual ID | 28503910.59 (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; |