| Variant ID | 29604 |
|---|---|
| Entrez Gene ID | 64410 |
| Gene | KLHL25 (GeneCards) |
| Location | hg19 15:86311780-86311780
hg38 15:85768549-85768549 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000015.9:g.86311780 G>A (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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4057594 |
| Variant occurences in COSMIC | 2(NS)|1(stomach) |
| EIGEN score | -0.1671 |
| CADD Raw score (version 1.3) | 2.125342 (Deleterious) |
| FATHMM raw prediction score | 0.95771 (Tolerated) |
| SIFT score | 0.055 (Tolerated) |
| LRT score | 0.113 (Tolerated) |
| MutationTaster score | 0.682 (Tolerated) |
| MutatioinAssessor score | 1.425 (Tolerated) |
| PROVEAN score | -0.94 (Tolerated) |
| MetaSVM score | -0.555 (Tolerated) |
| MetaLR score | 0.307 (Tolerated) |
| MCAP score | 0.029 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.45 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.951 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.122 |
| Deleterious probability by iFish2 | 0.1766 (Neutral) |
| Deleterious probability by DeFine | 0.9683 (Deleterious) |
| Entrez Gene ID | 64410 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLHL25 (GeneCards) |
| Number of variants in KLHL25 in this database | 5 (view all the variants) |
| Full name | kelch like family member 25 |
| Band | 15q25.3 |
| Other IDs | Vega: OTTHUMG00000148672 HGNC: HGNC:25732 Ensembl: ENSG00000183655 |
| Other names | ENC2, ENC-2 |
| Summary | None |
| Individual ID | 28714951.280 (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; |