| Variant ID | 3583 |
|---|---|
| Entrez Gene ID | 129401 |
| Gene | NUP35 (GeneCards) |
| Location | hg19 2:183990135-183990135
hg38 2:183125407-183125407 |
| Disease | |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.183990135 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4103 |
| CADD Raw score (version 1.3) | 0.950904 (Deleterious) |
| FATHMM raw prediction score | 0.17226 (Tolerated) |
| Deleterious probability by DeFine | 0.2552 (Neutral) |
| Entrez Gene ID | 129401 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NUP35 (GeneCards) |
| Number of variants in NUP35 in this database | 17 (view all the variants) |
| Full name | nucleoporin 35 |
| Band | 2q32.1 |
| Other IDs | Vega: OTTHUMG00000132621 OMIM: 608140 HGNC: HGNC:29797 Ensembl: ENSG00000163002 |
| Other names | MP44, NP44, MP-44, NUP53 |
| Summary | This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013] |
| 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; |