| Variant ID | 897 |
|---|---|
| Entrez Gene ID | 9688 |
| Gene | NUP93 (GeneCards) |
| Location | hg19 16:56873507-56873507
hg38 16:56839595-56839595 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000016.9:g.56873507 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 737 |
| Amino acid changes in protein | F > F |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.9288 |
| CADD Raw score (version 1.3) | 1.53366 (Deleterious) |
| FATHMM raw prediction score | 0.96461 (Tolerated) |
| Deleterious probability by DeFine | 0.9584 (Deleterious) |
| Entrez Gene ID | 9688 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NUP93 (GeneCards) |
| Number of variants in NUP93 in this database | 1 (view all the variants) |
| Full name | nucleoporin 93 |
| Band | 16q13 |
| Other IDs | Vega: OTTHUMG00000133278 OMIM: 614351 HGNC: HGNC:28958 Ensembl: ENSG00000102900 |
| Other names | NIC96 |
| Summary | The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |