| Variant ID | 1223 |
|---|---|
| Entrez Gene ID | 1147 |
| Gene | CHUK (GeneCards) |
| Location | hg19 10:101978878-101978878
hg38 10:100219121-100219121 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000010.10:g.101978878_101978878 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001278.4 |
| mRNA length | 3628 |
| Reference length | 135534747 |
| Deleterious probability by DeFine | 0.9406 (Deleterious) |
|---|
| Entrez Gene ID | 1147 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHUK (GeneCards) |
| Number of variants in CHUK in this database | 2 (view all the variants) |
| Full name | conserved helix-loop-helix ubiquitous kinase |
| Band | 10q24.31 |
| Other IDs | Vega: OTTHUMG00000018899 OMIM: 600664 HGNC: HGNC:1974 Ensembl: ENSG00000213341 |
| Other names | IKK1, IKKA, IKBKA, TCF16, NFKBIKA, IKK-alpha |
| Summary | This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.31 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |