| Variant ID | 23556 |
|---|---|
| Entrez Gene ID | 4928 |
| Gene | NUP98 (GeneCards) |
| Location | hg19 11:3726547-3726547
hg38 11:3705317-3705317 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000011.9:g.3726547 C>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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2509 |
| CADD Raw score (version 1.3) | 6.478696 (Deleterious) |
| FATHMM raw prediction score | 0.97669 (Tolerated) |
| SIFT score | 0.005 (Deleterious) |
| LRT score | 0 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.045 (Deleterious) |
| PROVEAN score | -2.92 (Deleterious) |
| MetaSVM score | -0.614 (Tolerated) |
| MetaLR score | 0.29 (Tolerated) |
| MCAP score | 0.008 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.37 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.622 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.999 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.436 |
| Deleterious probability by iFish2 | 0.4013 (Deleterious) |
| Deleterious probability by DeFine | 0.9281 (Deleterious) |
| Entrez Gene ID | 4928 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NUP98 (GeneCards) |
| Number of variants in NUP98 in this database | 3 (view all the variants) |
| Full name | nucleoporin 98 |
| Band | 11p15.4 |
| Other IDs | Vega: OTTHUMG00000011846 OMIM: 601021 HGNC: HGNC:8068 Ensembl: ENSG00000110713 |
| Other names | ADIR2, NUP96, NUP196 |
| Summary | Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016] |
| Individual ID | 29217587.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217587 |
|---|---|
| Title | Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 3; |