| Variant ID | 29808 |
|---|---|
| Entrez Gene ID | 7036 |
| Gene | TFR2 (GeneCards) |
| Location | hg19 7:100229477-100229477
hg38 7:100631854-100631854 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000007.13:g.100229477 C>A (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4822 |
| CADD Raw score (version 1.3) | 2.817554 (Deleterious) |
| FATHMM raw prediction score | 0.2391 (Tolerated) |
| SIFT score | 0.143 (Tolerated) |
| LRT score | 0.197 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.95 (Deleterious) |
| PROVEAN score | -2.77 (Deleterious) |
| MetaSVM score | -1.018 (Tolerated) |
| MetaLR score | 0.119 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.658 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.04 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.149 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.197 |
| Deleterious probability by iFish2 | 0.6617 (Deleterious) |
| Deleterious probability by DeFine | 0.7229 (Deleterious) |
| Entrez Gene ID | 7036 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TFR2 (GeneCards) |
| Number of variants in TFR2 in this database | 2 (view all the variants) |
| Full name | transferrin receptor 2 |
| Band | 7q22.1 |
| Other IDs | Vega: OTTHUMG00000159598 OMIM: 604720 HGNC: HGNC:11762 Ensembl: ENSG00000106327 |
| Other names | HFE3, TFRC2 |
| Summary | This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011] |
| Individual ID | 28867142.40 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |