| Variant ID | 22442 |
|---|---|
| Entrez Gene ID | 3192 |
| Gene | HNRNPU (GeneCards) |
| Location | hg19 1:245032395-245032395
hg38 1:244869093-244869093 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000001.10:g.245032395 T>G (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0659 |
| CADD Raw score (version 1.3) | 0.893404 (Deleterious) |
| FATHMM raw prediction score | 0.12945 (Tolerated) |
| Deleterious probability by DeFine | 0.241 (Neutral) |
| Entrez Gene ID | 3192 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HNRNPU (GeneCards) |
| Number of variants in HNRNPU in this database | 2 (view all the variants) |
| Full name | heterogeneous nuclear ribonucleoprotein U |
| Band | 1q44 |
| Other IDs | Vega: OTTHUMG00000040396 OMIM: 602869 HGNC: HGNC:5048 Ensembl: ENSG00000153187 |
| Other names | SAFA, HNRPU, SAF-A, U21.1, pp120, EIEE54, GRIP120, hnRNPU, HNRNPU-AS1 |
| Summary | This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [provided by RefSeq, Jun 2017] |
| 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; |