| Variant ID | 22278 |
|---|---|
| Entrez Gene ID | 51213 |
| Gene | LUZP4 (GeneCards) |
| Location | hg19 X:114666131-114666131
hg38 X:115431663-115431663 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.114666131 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 1.258822 (Deleterious) |
| FATHMM raw prediction score | 0.12561 (Tolerated) |
| Deleterious probability by DeFine | 0.3543 (Neutral) |
| Entrez Gene ID | 51213 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LUZP4 (GeneCards) |
| Number of variants in LUZP4 in this database | 1 (view all the variants) |
| Full name | leucine zipper protein 4 |
| Band | Xq23 |
| Other IDs | Vega: OTTHUMG00000022234 OMIM: 300616 HGNC: HGNC:24971 Ensembl: ENSG00000102021 |
| Other names | CT-8, CT28, CT-28, HOM-TES-85 |
| Summary | This gene encodes a leucine-zipper protein that was first defined as a cancer testis antigens. The encoded protein is an RNA binding protein that interacts with the mRNA export receptor nuclear RNA export factor 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] |
| 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; |