| Variant ID | 29718 |
|---|---|
| Entrez Gene ID | 59349 |
| Gene | KLHL12 (GeneCards) |
| Location | hg19 1:202880289-202880289
hg38 1:202911161-202911161 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.202880289 C>T (Genome Assembly: hg19) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9173 |
| CADD Raw score (version 1.3) | 6.868034 (Deleterious) |
| FATHMM raw prediction score | 0.98774 (Tolerated) |
| SIFT score | 0.026 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.03 (Deleterious) |
| PROVEAN score | -2.33 (Tolerated) |
| MetaSVM score | 0.223 (Deleterious) |
| MetaLR score | 0.588 (Deleterious) |
| MCAP score | 0.045 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.56 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.503 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.881 |
| Deleterious probability by iFish2 | 0.9631 (Deleterious) |
| Deleterious probability by DeFine | 0.9574 (Deleterious) |
| Entrez Gene ID | 59349 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KLHL12 (GeneCards) |
| Number of variants in KLHL12 in this database | 1 (view all the variants) |
| Full name | kelch like family member 12 |
| Band | 1q32.1 |
| Other IDs | Vega: OTTHUMG00000041385 OMIM: 614522 HGNC: HGNC:19360 Ensembl: ENSG00000117153 |
| Other names | DKIR, C3IP1 |
| Summary | This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
| Individual ID | 28867142.18 (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; |