| Variant ID | 27111 |
|---|---|
| Entrez Gene ID | 1147 |
| Gene | CHUK (GeneCards) |
| Location | hg19 10:101961424-101961424
hg38 10:100201667-100201667 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000010.10:g.101961424 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3639 |
| CADD Raw score (version 1.3) | -0.05784 (Deleterious) |
| FATHMM raw prediction score | 0.07962 (Tolerated) |
| Deleterious probability by DeFine | 0.1378 (Neutral) |
| 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 | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |