| Variant ID | 8612 |
|---|---|
| Entrez Gene ID | 51194 |
| Gene | IPO11 (GeneCards) |
| Location | hg19 5:63049128-63049128
hg38 5:63753301-63753301 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.63049128 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1809 |
| CADD Raw score (version 1.3) | 0.61187 (Deleterious) |
| FATHMM raw prediction score | 0.18514 (Tolerated) |
| Deleterious probability by DeFine | 0.0806 (Neutral) |
| Entrez Gene ID | 51194 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IPO11 (GeneCards) |
| Number of variants in IPO11 in this database | 12 (view all the variants) |
| Full name | importin 11 |
| Band | 5q12.1 |
| Other IDs | Vega: OTTHUMG00000154400 OMIM: 610889 HGNC: HGNC:20628 Ensembl: ENSG00000086200 |
| Other names | RanBP11 |
| Summary | Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |