| Variant ID | 29186 |
|---|---|
| Entrez Gene ID | 84067 |
| Gene | FAM160A2 (GeneCards) |
| Location | hg19 11:6239889-6239889
hg38 11:6218659-6218659 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000011.9:g.6239889 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4491 |
| CADD Raw score (version 1.3) | 5.228781 (Deleterious) |
| FATHMM raw prediction score | 0.8989 (Tolerated) |
| SIFT score | 0.552 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.856 (Deleterious) |
| MutatioinAssessor score | 2.075 (Deleterious) |
| PROVEAN score | -0.86 (Tolerated) |
| MetaSVM score | -1.087 (Tolerated) |
| MetaLR score | 0.079 (Tolerated) |
| MCAP score | 0.01 (Tolerated) |
| FitCons score | 0.745 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.5 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.531 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.132 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.559 |
| Deleterious probability by iFish2 | 0.7735 (Deleterious) |
| Deleterious probability by DeFine | 0.9315 (Deleterious) |
| Entrez Gene ID | 84067 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAM160A2 (GeneCards) |
| Number of variants in FAM160A2 in this database | 1 (view all the variants) |
| Full name | family with sequence similarity 160 member A2 |
| Band | 11p15.4 |
| Other IDs | Vega: OTTHUMG00000133379 HGNC: HGNC:25378 Ensembl: ENSG00000051009 |
| Other names | FHIP, C11orf56 |
| Summary | The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016] |
| Individual ID | 28503910.63 (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; |