| Variant ID | 8982 |
|---|---|
| Entrez Gene ID | 6492 |
| Gene | SIM1 (GeneCards) |
| Location | hg19 6:100894572-100894572
hg38 6:100446696-100446696 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.100894572 C>T (Genome Assembly: GRCh37) |
| 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 | 0.5369 |
| CADD Raw score (version 1.3) | -0.138893 (Deleterious) |
| FATHMM raw prediction score | 0.204 (Tolerated) |
| Deleterious probability by DeFine | 0.8842 (Deleterious) |
| Entrez Gene ID | 6492 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SIM1 (GeneCards) |
| Number of variants in SIM1 in this database | 1 (view all the variants) |
| Full name | SIM bHLH transcription factor 1 |
| Band | 6q16.3 |
| Other IDs | Vega: OTTHUMG00000015275 OMIM: 603128 HGNC: HGNC:10882 Ensembl: ENSG00000112246 |
| Other names | bHLHe14 |
| Summary | SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or cognitive disability of Down syndrome. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |