| Variant ID | 12617 |
|---|---|
| Entrez Gene ID | 7991 |
| Gene | TUSC3 (GeneCards) |
| Location | hg19 8:15450127-15450127
hg38 8:15592618-15592618 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.15450127 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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1276 |
| CADD Raw score (version 1.3) | 0.318386 (Deleterious) |
| FATHMM raw prediction score | 0.12955 (Tolerated) |
| Deleterious probability by DeFine | 0.0799 (Neutral) |
| Entrez Gene ID | 7991 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TUSC3 (GeneCards) |
| Number of variants in TUSC3 in this database | 10 (view all the variants) |
| Full name | tumor suppressor candidate 3 |
| Band | 8p22 |
| Other IDs | Vega: OTTHUMG00000094803 OMIM: 601385 HGNC: HGNC:30242 Ensembl: ENSG00000104723 |
| Other names | M33, N33, MRT7, MRT22, MagT2, OST3A, D8S1992 |
| Summary | This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017] |
| Individual ID | 29217584.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |