| Variant ID | 8613 |
|---|---|
| Entrez Gene ID | 153241 |
| Gene | CEP120 (GeneCards) |
| Location | hg19 5:122700568-122700568
hg38 5:123364874-123364874 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.122700568 T>C (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3555 |
| CADD Raw score (version 1.3) | 0.837157 (Deleterious) |
| FATHMM raw prediction score | 0.96754 (Tolerated) |
| Deleterious probability by DeFine | 0.8853 (Deleterious) |
| Entrez Gene ID | 153241 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CEP120 (GeneCards) |
| Number of variants in CEP120 in this database | 3 (view all the variants) |
| Full name | centrosomal protein 120 |
| Band | 5q23.2 |
| Other IDs | Vega: OTTHUMG00000128922 OMIM: 613446 HGNC: HGNC:26690 Ensembl: ENSG00000168944 |
| Other names | JBTS31, SRTD13, CCDC100 |
| Summary | This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
| Individual ID | 29217584.16 (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; |