| Variant ID | 21763 |
|---|---|
| Entrez Gene ID | 56911 |
| Gene | MAP3K7CL (GeneCards) |
| Location | hg19 21:30464070-30464070
hg38 21:29091749-29091749 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000021.8:g.30464070 G>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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5196 |
| CADD Raw score (version 1.3) | 1.144914 (Deleterious) |
| FATHMM raw prediction score | 0.00617 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.345 (Tolerated) |
| PROVEAN score | -0.01 (Tolerated) |
| MetaSVM score | -1.008 (Tolerated) |
| MetaLR score | 0.136 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.601 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.25 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.534 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.865 |
| Deleterious probability by iFish2 | 0.0106 (Neutral) |
| Deleterious probability by DeFine | 0.3803 (Neutral) |
| Entrez Gene ID | 56911 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAP3K7CL (GeneCards) |
| Number of variants in MAP3K7CL in this database | 3 (view all the variants) |
| Full name | MAP3K7 C-terminal like |
| Band | 21q21.3 |
| Other IDs | Vega: OTTHUMG00000078806 OMIM: 611110 HGNC: HGNC:16457 Ensembl: ENSG00000156265 |
| Other names | TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4, C21orf7, HC21ORF7 |
| Summary | None |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |