| Variant ID | 29393 |
|---|---|
| Entrez Gene ID | 114781 |
| Gene | BTBD9 (GeneCards) |
| Location | hg19 6:38561774-38561774
hg38 6:38593998-38593998 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000006.11:g.38561774 A>G (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3777628 |
| Variant occurences in COSMIC | 1(urinary_tract) |
| EIGEN score | 0.7879 |
| CADD Raw score (version 1.3) | 3.948081 (Deleterious) |
| FATHMM raw prediction score | 0.98958 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.76 (Tolerated) |
| PROVEAN score | -3.66 (Deleterious) |
| MetaSVM score | 0.115 (Deleterious) |
| MetaLR score | 0.523 (Deleterious) |
| MCAP score | 0.093 (Deleterious) |
| FitCons score | 0.651 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.65 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.188 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.164 |
| Deleterious probability by iFish2 | 0.1444 (Neutral) |
| Deleterious probability by DeFine | 0.9525 (Deleterious) |
| Entrez Gene ID | 114781 (NCBI Gene) |
|---|---|
| Official Gene Symbol | BTBD9 (GeneCards) |
| Number of variants in BTBD9 in this database | 8 (view all the variants) |
| Full name | BTB domain containing 9 |
| Band | 6p21.2 |
| Other IDs | Vega: OTTHUMG00000014634 OMIM: 611237 HGNC: HGNC:21228 Ensembl: ENSG00000183826 |
| Other names | dJ322I12.1 |
| Summary | This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011] |
| Individual ID | 28714951.69 (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; |