| Variant ID | 29605 |
|---|---|
| Entrez Gene ID | 3192 |
| Gene | HNRNPU (GeneCards) |
| Location | hg19 1:245027141-245027141
hg38 1:244863839-244863839 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.245027141 C>G (Genome Assembly: hg19) |
| 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 | -0.3349 |
| CADD Raw score (version 1.3) | 4.457451 (Deleterious) |
| FATHMM raw prediction score | 0.4078 (Tolerated) |
| SIFT score | 0.411 (Tolerated) |
| LRT score | 0.188 |
| MutationTaster score | 0.647 (Tolerated) |
| MutatioinAssessor score | 0.345 (Tolerated) |
| PROVEAN score | 0.19 (Tolerated) |
| MetaSVM score | -1.039 (Tolerated) |
| MetaLR score | 0.057 (Tolerated) |
| MCAP score | 0.367 (Deleterious) |
| FitCons score | 0.442 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.42 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.014 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.985 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.237 |
| Deleterious probability by iFish2 | 0.3637 (Neutral) |
| Deleterious probability by DeFine | 0.9077 (Deleterious) |
| 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 | 28714951.281 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |