| Variant ID | 22322 |
|---|---|
| Entrez Gene ID | 2491 |
| Gene | CENPI (GeneCards) |
| Location | hg19 X:100460443-100460443
hg38 X:101205454-101205454 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.100460443 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.007631 (Deleterious) |
| FATHMM raw prediction score | 0.06052 (Tolerated) |
| Deleterious probability by DeFine | 0.0782 (Neutral) |
| Entrez Gene ID | 2491 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CENPI (GeneCards) |
| Number of variants in CENPI in this database | 1 (view all the variants) |
| Full name | centromere protein I |
| Band | Xq22.1 |
| Other IDs | Vega: OTTHUMG00000022018 OMIM: 300065 HGNC: HGNC:3968 Ensembl: ENSG00000102384 |
| Other names | LRPR1, CENP-I, FSHPRH1 |
| Summary | This gene encodes a centromere protein that is a component of the CENPA-NAC (nucleosome-associated) complex. This complex is critical for accurate chromosome alignment and segregation and it ensures proper mitotic progression. This protein regulates the recruitment of kinetochore-associated proteins that are required to generate the spindle checkpoint signal. The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. Mutations in this gene may be involved in human X-linked disorders of gonadal development and gametogenesis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jan 2016] |
| Individual ID | 29217584.19 (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; |