| Variant ID | 29113 |
|---|---|
| Entrez Gene ID | 199713 |
| Gene | NLRP7 (GeneCards) |
| Location | hg19 19:55439074-55439074
hg38 19:54927706-54927706 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | HiSeq Pyrosequencing |
| Mutation(HGVS format) | NC_000019.9:g.55439074 C>G (Genome Assembly: hg19) |
| 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 | -1.47 |
| CADD Raw score (version 1.3) | -0.065812 (Deleterious) |
| FATHMM raw prediction score | 0.00222 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MetaSVM score | -1.013 (Tolerated) |
| MetaLR score | 0.048 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.57 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.05 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.06 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.619 |
| Deleterious probability by iFish2 | 0.5906 (Deleterious) |
| Deleterious probability by DeFine | 0.4679 (Neutral) |
| Entrez Gene ID | 199713 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NLRP7 (GeneCards) |
| Number of variants in NLRP7 in this database | 2 (view all the variants) |
| Full name | NLR family pyrin domain containing 7 |
| Band | 19q13.42 |
| Other IDs | Vega: OTTHUMG00000180428 OMIM: 609661 HGNC: HGNC:22947 Ensembl: ENSG00000167634 |
| Other names | HYDM, PAN7, NALP7, NOD12, PYPAF3, CLR19.4 |
| Summary | This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 27632392.06 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27632392 |
| Whose mosaic mutation | Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 27632392 |
|---|---|
| Title | The Contribution of Mosaic Variants to Autism Spectrum Disorder |
| Journal | PLoS Genetics |
| Publication date | 2016.09 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 16; |