| Variant ID | 1227 |
|---|---|
| Entrez Gene ID | 246175 |
| Gene | CNOT6L (GeneCards) |
| Location | hg19 4:78669490-78669490
hg38 4:77748336-77748336 |
| Disease | Asymptomatic |
| Method | Hiseq |
| Mutation(HGVS format) | NC_000004.11:g.78669490 C>T (Genome Assembly: GRCh37) |
| 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_144571.2 |
| mRNA length | 8794 |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0.0007 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs199716504 |
| Variant IDs in COSMIC (version 89) | 6631550 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.2096 |
| CADD Raw score (version 1.3) | 3.420971 (Deleterious) |
| FATHMM raw prediction score | 0.9256 (Tolerated) |
| SIFT score | 0.236 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.55 (Tolerated) |
| PROVEAN score | 0.31 (Tolerated) |
| MetaSVM score | -1.101 (Tolerated) |
| MetaLR score | 0.074 (Tolerated) |
| MCAP score | 0.011 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.34 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.982 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.03 |
| Deleterious probability by iFish2 | 0.4761 (Deleterious) |
| Deleterious probability by DeFine | 0.8671 (Deleterious) |
| Entrez Gene ID | 246175 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CNOT6L (GeneCards) |
| Number of variants in CNOT6L in this database | 3 (view all the variants) |
| Full name | CCR4-NOT transcription complex subunit 6 like |
| Band | 4q21.1 |
| Other IDs | Vega: OTTHUMG00000160832 HGNC: HGNC:18042 Ensembl: ENSG00000138767 |
| Other names | CCR4b |
| Summary | None |
| Individual ID | 28235832.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28235832 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 28235832 |
|---|---|
| Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
| Journal | Genome Research |
| Publication date | 2017.04 |
| Disease | Autism Spectrum Disorders |
| Number of cases | Male cases: 3; cases of unknown sex: 1; |