| Variant ID | 1553 |
|---|---|
| Entrez Gene ID | 79718 |
| Gene | TBL1XR1 (GeneCards) |
| Location | hg19 3:176765107-176765107
hg38 3:177047319-177047319 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000003.11:g.176765107 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 282 |
| Amino acid changes in protein | L > P |
| Position in cDNA | 845 |
| Changes in cDNA | T > C |
| mRNA accession | NM_024665.4 |
| mRNA length | 6550 |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9858 |
| CADD Raw score (version 1.3) | 6.654926 (Deleterious) |
| FATHMM raw prediction score | 0.9936 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.25 (Deleterious) |
| PROVEAN score | -6.38 (Deleterious) |
| MetaSVM score | 0.261 (Deleterious) |
| MetaLR score | 0.548 (Deleterious) |
| MCAP score | 0.141 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.78 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.325 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.282 |
| Deleterious probability by iFish2 | 0.9985 (Deleterious) |
| Deleterious probability by DeFine | 0.9571 (Deleterious) |
| Entrez Gene ID | 79718 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TBL1XR1 (GeneCards) |
| Number of variants in TBL1XR1 in this database | 3 (view all the variants) |
| Full name | transducin beta like 1 X-linked receptor 1 |
| Band | 3q26.32 |
| Other IDs | Vega: OTTHUMG00000157140 OMIM: 608628 HGNC: HGNC:29529 Ensembl: ENSG00000177565 |
| Other names | C21, DC42, IRA1, MRD41, TBLR1 |
| Summary | This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016] |
| Individual ID | 28867142.20 (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; |