| Variant ID | 21046 |
|---|---|
| Entrez Gene ID | 147945 |
| Gene | NLRP4 (GeneCards) |
| Location | hg19 19:56366343-56366343
hg38 19:55854977-55854977 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.56366343 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3455 |
| CADD Raw score (version 1.3) | -0.10206 (Deleterious) |
| FATHMM raw prediction score | 0.07321 (Tolerated) |
| Deleterious probability by DeFine | 0.1101 (Neutral) |
| Entrez Gene ID | 147945 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NLRP4 (GeneCards) |
| Number of variants in NLRP4 in this database | 4 (view all the variants) |
| Full name | NLR family pyrin domain containing 4 |
| Band | 19q13.43 |
| Other IDs | Vega: OTTHUMG00000181734 OMIM: 609645 HGNC: HGNC:22943 Ensembl: ENSG00000160505 |
| Other names | CT58, PAN2, RNH2, NALP4, PYPAF4, CLR19.5 |
| Summary | The protein encoded by this gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). This gene product has a demonstrated role as a negative regulator of autophagy and type I interferon signaling pathways as a result of protein interactions with its NACHT domain. The PYD domain has also been shown to be important in the inhibition of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells). [provided by RefSeq, Dec 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; |