| Variant ID | 29644 |
|---|---|
| Entrez Gene ID | 53919 |
| Gene | SLCO1C1 (GeneCards) |
| Location | hg19 12:20890190-20890190
hg38 12:20737256-20737256 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.20890190 G>T (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2575 |
| CADD Raw score (version 1.3) | 4.129183 (Deleterious) |
| FATHMM raw prediction score | 0.97136 (Tolerated) |
| SIFT score | 0.016 (Deleterious) |
| LRT score | 0.001 (Tolerated) |
| MutationTaster score | 0.664 (Tolerated) |
| MutatioinAssessor score | 0.57 (Tolerated) |
| PROVEAN score | -1.4 (Tolerated) |
| MetaSVM score | -1.049 (Tolerated) |
| MetaLR score | 0.01 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.15 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.353 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.577 |
| Deleterious probability by iFish2 | 0.0905 (Neutral) |
| Deleterious probability by DeFine | 0.9104 (Deleterious) |
| Entrez Gene ID | 53919 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLCO1C1 (GeneCards) |
| Number of variants in SLCO1C1 in this database | 2 (view all the variants) |
| Full name | solute carrier organic anion transporter family member 1C1 |
| Band | 12p12.2 |
| Other IDs | Vega: OTTHUMG00000168966 OMIM: 613389 HGNC: HGNC:13819 Ensembl: ENSG00000139155 |
| Other names | OATP1, OATPF, OATP-F, OATP14, OATP1C1, OATPRP5, SLC21A14 |
| Summary | This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009] |
| Individual ID | 28714951.320 (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; |