| Variant ID | 1398 |
|---|---|
| Entrez Gene ID | 284058 |
| Gene | KANSL1 (GeneCards) |
| Location | hg19 17:44248781-44248781
hg38 17:46171415-46171415 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000017.10:g.44248781 T>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 243 |
| Amino acid changes in protein | O > H |
| Position in cDNA | 729 |
| Changes in cDNA | A > C |
| mRNA accession | NM_001193465.1 |
| mRNA length | 5140 |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0211 |
| CADD Raw score (version 1.3) | 2.84626 (Deleterious) |
| FATHMM raw prediction score | 0.92784 (Tolerated) |
| SIFT score | 0.009 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.812 (Deleterious) |
| MutatioinAssessor score | 0.6 (Tolerated) |
| PROVEAN score | -1.69 (Tolerated) |
| MetaSVM score | -1.046 (Tolerated) |
| MetaLR score | 0.022 (Tolerated) |
| MCAP score | 0.008 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.68 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.999 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.674 |
| Deleterious probability by iFish2 | 0.2078 (Neutral) |
| Deleterious probability by DeFine | 0.8803 (Deleterious) |
| Entrez Gene ID | 284058 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KANSL1 (GeneCards) |
| Number of variants in KANSL1 in this database | 4 (view all the variants) |
| Full name | KAT8 regulatory NSL complex subunit 1 |
| Band | 17q21.31 |
| Other IDs | Vega: OTTHUMG00000178026 OMIM: 612452 HGNC: HGNC:24565 Ensembl: ENSG00000120071 |
| Other names | KDVS, NSL1, MSL1v1, CENP-36, hMSL1v1, KIAA1267 |
| Summary | This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012] |
| Individual ID | 28867142.09 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |