| Variant ID | 29171 |
|---|---|
| Entrez Gene ID | 63971 |
| Gene | KIF13A (GeneCards) |
| Location | hg19 6:17809126-17809126
hg38 6:17808895-17808895 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000006.11:g.17809126 C>T (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5357271 |
| Variant occurences in COSMIC | 2(large_intestine) |
| EIGEN score | 0.7142 |
| CADD Raw score (version 1.3) | 7.646502 (Deleterious) |
| FATHMM raw prediction score | 0.99633 (Tolerated) |
| SIFT score | 0.019 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.68 (Deleterious) |
| PROVEAN score | -2.77 (Deleterious) |
| MetaSVM score | 0.307 (Deleterious) |
| MetaLR score | 0.633 (Deleterious) |
| MCAP score | 0.095 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.34 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.902 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.108 |
| Deleterious probability by iFish2 | 0.8487 (Deleterious) |
| Deleterious probability by DeFine | 0.9562 (Deleterious) |
| Entrez Gene ID | 63971 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KIF13A (GeneCards) |
| Number of variants in KIF13A in this database | 6 (view all the variants) |
| Full name | kinesin family member 13A |
| Band | 6p22.3 |
| Other IDs | Vega: OTTHUMG00000014313 OMIM: 605433 HGNC: HGNC:14566 Ensembl: ENSG00000137177 |
| Other names | RBKIN, bA500C11.2 |
| Summary | This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011] |
| Individual ID | 28503910.48 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| 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; |