| Variant ID | 2931 |
|---|---|
| Entrez Gene ID | 1373 |
| Gene | CPS1 (GeneCards) |
| Location | hg19 2:211788375-211788375
hg38 2:210923651-210923651 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.211788375 G>A (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3474 |
| CADD Raw score (version 1.3) | 0.079858 (Deleterious) |
| FATHMM raw prediction score | 0.06759 (Tolerated) |
| Deleterious probability by DeFine | 0.2593 (Neutral) |
| Entrez Gene ID | 1373 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CPS1 (GeneCards) |
| Number of variants in CPS1 in this database | 10 (view all the variants) |
| Full name | carbamoyl-phosphate synthase 1 |
| Band | 2q34 |
| Other IDs | Vega: OTTHUMG00000132994 OMIM: 608307 HGNC: HGNC:2323 Ensembl: ENSG00000021826 |
| Other names | PHN, CPSASE1 |
| Summary | The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010] |
| 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; |