| Variant ID | 29930 |
|---|---|
| Entrez Gene ID | 255043 |
| Gene | TMEM86B (GeneCards) |
| Location | hg19 19:55739655-55739655
hg38 19:55228287-55228287 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000019.9:g.55739655 A>G (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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -2.0286 |
| CADD Raw score (version 1.3) | -1.432005 (Deleterious) |
| FATHMM raw prediction score | 0.03827 (Tolerated) |
| SIFT score | 0.354 (Tolerated) |
| LRT score | 0.08 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | -0.55 (Tolerated) |
| PROVEAN score | -0.93 (Tolerated) |
| MetaSVM score | -1.051 (Tolerated) |
| MetaLR score | 0.023 (Tolerated) |
| MCAP score | 0.001 (Tolerated) |
| FitCons score | 0.646 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -9.76 |
| PhyloP score based on multiple alignment of 100 vertebrates | -4.678 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.558 |
| Deleterious probability by iFish2 | 0.0217 (Neutral) |
| Deleterious probability by DeFine | 0.8459 (Deleterious) |
| Entrez Gene ID | 255043 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMEM86B (GeneCards) |
| Number of variants in TMEM86B in this database | 1 (view all the variants) |
| Full name | transmembrane protein 86B |
| Band | 19q13.42 |
| Other IDs | Vega: OTTHUMG00000187285 OMIM: 617806 HGNC: HGNC:28448 Ensembl: ENSG00000180089 |
| Other names | None |
| Summary | None |
| Individual ID | 28867142.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |