| Variant ID | 22298 |
|---|---|
| Entrez Gene ID | 23641 |
| Gene | LDOC1 (GeneCards) |
| Location | hg19 X:140518943-140518943
hg38 X:141430929-141430929 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.140518943 A>G (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) | 0.441789 (Deleterious) |
| FATHMM raw prediction score | 0.19012 (Tolerated) |
| Deleterious probability by DeFine | 0.4137 (Neutral) |
| Entrez Gene ID | 23641 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LDOC1 (GeneCards) |
| Number of variants in LDOC1 in this database | 2 (view all the variants) |
| Full name | LDOC1, regulator of NFKB signaling |
| Band | Xq27.1 |
| Other IDs | Vega: OTTHUMG00000022558 OMIM: 300402 HGNC: HGNC:6548 Ensembl: ENSG00000182195 |
| Other names | Mar7, RTL7, BCUR1, Mart7, SIRH7 |
| Summary | The protein encoded by this gene contains a leucine zipper-like motif and a proline-rich region that shares marked similarity with an SH3-binding domain. The protein localizes to the nucleus and is down-regulated in some cancer cell lines. It is thought to regulate the transcriptional response mediated by the nuclear factor kappa B (NF-kappaB). The gene has been proposed as a tumor suppressor gene whose protein product may have an important role in the development and/or progression of some cancers. [provided by RefSeq, Jul 2008] |
| 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; |