| Variant ID | 29240 |
|---|---|
| Entrez Gene ID | 4921 |
| Gene | DDR2 (GeneCards) |
| Location | hg19 1:162740230-162740230
hg38 1:162770440-162770440 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.162740230 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs34869543 |
| EIGEN score | 0.2144 |
| CADD Raw score (version 1.3) | 4.657895 (Deleterious) |
| FATHMM raw prediction score | 0.93602 (Tolerated) |
| SIFT score | 0.095 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | -0.895 (Tolerated) |
| PROVEAN score | -0.75 (Tolerated) |
| MetaSVM score | -1.068 (Tolerated) |
| MetaLR score | 0.027 (Tolerated) |
| MCAP score | 0.009 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.86 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.87 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.474 |
| Deleterious probability by iFish2 | 0.2952 (Neutral) |
| Deleterious probability by DeFine | 0.9651 (Deleterious) |
| Entrez Gene ID | 4921 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DDR2 (GeneCards) |
| Number of variants in DDR2 in this database | 3 (view all the variants) |
| Full name | discoidin domain receptor tyrosine kinase 2 |
| Band | 1q23.3 |
| Other IDs | Vega: OTTHUMG00000034423 OMIM: 191311 HGNC: HGNC:2731 Ensembl: ENSG00000162733 |
| Other names | TKT, MIG20a, NTRKR3, TYRO10 |
| Summary | This gene encodes a member of the discoidin domain receptor subclass of the receptor tyrosine kinase (RTKs) protein family. RTKs play a key role in the communication of cells with their microenvironment. The encoded protein is a collagen-induced receptor that activates signal transduction pathways involved in cell adhesion, proliferation, and extracellular matrix remodeling. This protein is expressed in numerous cell types and may alos be involved in wound repair and regulate tumor growth and invasiveness. Mutations in this gene are the cause of short limb-hand type spondylometaepiphyseal dysplasia. [provided by RefSeq, Aug 2017] |
| Individual ID | 28503910.117 (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; |