| Variant ID | 29793 |
|---|---|
| Entrez Gene ID | 389434 |
| Gene | IYD (GeneCards) |
| Location | hg19 6:150710567-150710567
hg38 6:150389431-150389431 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000006.11:g.150710567 G>C (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.198 |
| CADD Raw score (version 1.3) | 2.012602 (Deleterious) |
| FATHMM raw prediction score | 0.99182 (Tolerated) |
| SIFT score | 0.219 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.36 (Deleterious) |
| PROVEAN score | -1.92 (Tolerated) |
| MetaSVM score | -0.732 (Tolerated) |
| MetaLR score | 0.199 (Tolerated) |
| MCAP score | 0.051 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.4 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.672 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.374 |
| Deleterious probability by iFish2 | 0.852 (Deleterious) |
| Deleterious probability by DeFine | 0.9403 (Deleterious) |
| Entrez Gene ID | 389434 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IYD (GeneCards) |
| Number of variants in IYD in this database | 5 (view all the variants) |
| Full name | iodotyrosine deiodinase |
| Band | 6q25.1 |
| Other IDs | Vega: OTTHUMG00000016347 OMIM: 612025 HGNC: HGNC:21071 Ensembl: ENSG00000009765 |
| Other names | TDH4, IYD-1, DEHAL1, C6orf71 |
| Summary | This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations in this gene cause congenital hypothyroidism due to dyshormonogenesis type 4, which is also referred to as deiodinase deficiency, or iodotyrosine dehalogenase deficiency, or thyroid hormonogenesis type 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] |
| Individual ID | 28867142.39 (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; |