| Variant ID | 29986 |
|---|---|
| Entrez Gene ID | 5754 |
| Gene | PTK7 (GeneCards) |
| Location | hg19 6:43109472-43109472
hg38 6:43141734-43141734 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000006.11:g.43109472 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 570 |
| Amino acid changes in protein | R > Q |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001270398 |
| mRNA length | NA |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 6758738 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.477 |
| CADD Raw score (version 1.3) | 6.260207 (Deleterious) |
| FATHMM raw prediction score | 0.97955 (Tolerated) |
| SIFT score | 0.055 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.855 (Tolerated) |
| PROVEAN score | -1.28 (Tolerated) |
| MetaSVM score | -1.091 (Tolerated) |
| MetaLR score | 0.078 (Tolerated) |
| MCAP score | 0.038 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.23 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.063 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.806 |
| Deleterious probability by iFish2 | 0.2916 (Neutral) |
| Deleterious probability by DeFine | 0.9646 (Deleterious) |
| Entrez Gene ID | 5754 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTK7 (GeneCards) |
| Number of variants in PTK7 in this database | 1 (view all the variants) |
| Full name | protein tyrosine kinase 7 (inactive) |
| Band | 6p21.1 |
| Other IDs | Vega: OTTHUMG00000014721 OMIM: 601890 HGNC: HGNC:9618 Ensembl: ENSG00000112655 |
| Other names | CCK4, CCK-4 |
| Summary | This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] |
| Individual ID | 28503910.210 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Mother |
| Phenotype | 2 |
| Number of affected children | 1 |
| 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; |