| Variant ID | 29549 |
|---|---|
| Entrez Gene ID | 3482 |
| Gene | IGF2R (GeneCards) |
| Location | hg19 6:160494299-160494299
hg38 6:160073267-160073267 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000006.11:g.160494299 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.0734 |
| CADD Raw score (version 1.3) | 0.471549 (Deleterious) |
| FATHMM raw prediction score | 0.132 (Tolerated) |
| SIFT score | 0.116 (Tolerated) |
| LRT score | 0.119 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| PROVEAN score | 0.01 (Tolerated) |
| MetaSVM score | -0.931 (Tolerated) |
| MetaLR score | 0.002 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.166 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.073 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.018 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.214 |
| Deleterious probability by iFish2 | 0.0052 (Neutral) |
| Deleterious probability by DeFine | 0.7438 (Deleterious) |
| Entrez Gene ID | 3482 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IGF2R (GeneCards) |
| Number of variants in IGF2R in this database | 1 (view all the variants) |
| Full name | insulin like growth factor 2 receptor |
| Band | 6q25.3 |
| Other IDs | Vega: OTTHUMG00000015945 OMIM: 147280 HGNC: HGNC:5467 Ensembl: ENSG00000197081 |
| Other names | MPR1, MPRI, CD222, CIMPR, M6P-R, MPR300, CI-M6PR, MPR300, M6P/IGF2R |
| Summary | This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015] |
| Individual ID | 28714951.225 (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; |