| Variant ID | 29496 |
|---|---|
| Entrez Gene ID | 3190 |
| Gene | HNRNPK (GeneCards) |
| Location | hg19 9:86585713-86585713
hg38 9:83970798-83970798 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.86585713 C>T (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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0546 |
| CADD Raw score (version 1.3) | 4.567269 (Deleterious) |
| FATHMM raw prediction score | 0.9597 (Tolerated) |
| SIFT score | 0.051 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.72 (Tolerated) |
| PROVEAN score | -1.5 (Tolerated) |
| MetaSVM score | -1.003 (Tolerated) |
| MetaLR score | 0.124 (Tolerated) |
| MCAP score | 0.02 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.66 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.655 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.122 |
| Deleterious probability by iFish2 | 0.4304 (Neutral) |
| Deleterious probability by DeFine | 0.9106 (Deleterious) |
| Entrez Gene ID | 3190 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HNRNPK (GeneCards) |
| Number of variants in HNRNPK in this database | 1 (view all the variants) |
| Full name | heterogeneous nuclear ribonucleoprotein K |
| Band | 9q21.32 |
| Other IDs | Vega: OTTHUMG00000020107 OMIM: 600712 HGNC: HGNC:5044 Ensembl: ENSG00000165119 |
| Other names | AUKS, CSBP, TUNP, HNRPK |
| Summary | This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.172 (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; |