| Variant ID | 26908 |
|---|---|
| Entrez Gene ID | 23511 |
| Gene | NUP188 (GeneCards) |
| Location | hg19 9:131735685-131735685
hg38 9:128973406-128973406 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000009.11:g.131735685 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5812 |
| CADD Raw score (version 1.3) | -0.315046 (Deleterious) |
| FATHMM raw prediction score | 0.04685 (Tolerated) |
| Deleterious probability by DeFine | 0.1448 (Neutral) |
| 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 | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |