| Variant ID | 29176 |
|---|---|
| Entrez Gene ID | 26013 |
| Gene | L3MBTL1 (GeneCards) |
| Location | hg19 20:42169759-42169759
hg38 20:43541119-43541119 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000020.10:g.42169759 T>G (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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.1399 |
| CADD Raw score (version 1.3) | 0.012004 (Deleterious) |
| FATHMM raw prediction score | 0.02722 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.145 |
| MutationTaster score | 1 (Tolerated) |
| PROVEAN score | 0.27 (Tolerated) |
| MetaSVM score | -1.039 (Tolerated) |
| MetaLR score | 0.028 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.94 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.779 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.171 |
| Deleterious probability by iFish2 | 0.3042 (Deleterious) |
| Deleterious probability by DeFine | 0.2689 (Neutral) |
| Entrez Gene ID | 26013 (NCBI Gene) |
|---|---|
| Official Gene Symbol | L3MBTL1 (GeneCards) |
| Number of variants in L3MBTL1 in this database | 2 (view all the variants) |
| Full name | L3MBTL1, histone methyl-lysine binding protein |
| Band | 20q13.12 |
| Other IDs | Vega: OTTHUMG00000032503 OMIM: 608802 HGNC: HGNC:15905 Ensembl: ENSG00000185513 |
| Other names | L3MBTL, ZC2HC3, H-L(3)MBT, dJ138B7.3 |
| Summary | This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010] |
| Individual ID | 28503910.53 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |