| Variant ID | 29660 |
|---|---|
| Entrez Gene ID | 8085 |
| Gene | KMT2D (GeneCards) |
| Location | hg19 12:49415648-49415648
hg38 12:49021865-49021865 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.49415648 T>C (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8288 |
| CADD Raw score (version 1.3) | 1.711106 (Deleterious) |
| FATHMM raw prediction score | 0.98426 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.006 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.425 (Deleterious) |
| PROVEAN score | -8.56 (Deleterious) |
| MetaSVM score | 0.748 (Deleterious) |
| MetaLR score | 0.768 (Deleterious) |
| MCAP score | 0.85 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.31 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.931 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.935 |
| Deleterious probability by iFish2 | 0.9983 (Deleterious) |
| Deleterious probability by DeFine | 0.9465 (Deleterious) |
| Entrez Gene ID | 8085 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KMT2D (GeneCards) |
| Number of variants in KMT2D in this database | 107 (view all the variants) |
| Full name | lysine methyltransferase 2D |
| Band | 12q13.12 |
| Other IDs | Vega: OTTHUMG00000166524 OMIM: 602113 HGNC: HGNC:7133 Ensembl: ENSG00000167548 |
| Other names | ALR, KMS, MLL2, MLL4, AAD10, KABUK1, TNRC21, CAGL114 |
| Summary | The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010] |
| Individual ID | 28714951.336 (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; |