| Variant ID | 29273 |
|---|---|
| Entrez Gene ID | 23511 |
| Gene | NUP188 (GeneCards) |
| Location | hg19 9:131756681-131756681
hg38 9:128994402-128994402 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000009.11:g.131756681 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003231 |
|---|---|
| EIGEN score | 0.7675 |
| CADD Raw score (version 1.3) | 7.026481 (Deleterious) |
| FATHMM raw prediction score | 0.99508 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.04 (Tolerated) |
| PROVEAN score | -6.94 (Deleterious) |
| MetaSVM score | -0.133 (Tolerated) |
| MetaLR score | 0.447 (Tolerated) |
| MCAP score | 0.083 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.8 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.378 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.035 |
| Deleterious probability by iFish2 | 0.836 (Deleterious) |
| Deleterious probability by DeFine | 0.9474 (Deleterious) |
| Entrez Gene ID | 23511 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NUP188 (GeneCards) |
| Number of variants in NUP188 in this database | 2 (view all the variants) |
| Full name | nucleoporin 188 |
| Band | 9q34.11 |
| Other IDs | Vega: OTTHUMG00000020768 OMIM: 615587 HGNC: HGNC:17859 Ensembl: ENSG00000095319 |
| Other names | hNp188, KIAA0169 |
| Summary | The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013] |
| Individual ID | 28503910.150 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |