| Variant ID | 31555 |
|---|---|
| Entrez Gene ID | 58508 |
| Gene | MLL3 (GeneCards) |
| Location | hg19 7:152008888-152008888
hg38 7:152311803-152311803 |
| Disease | Asymptomatic |
| Method | NGS gene panel |
| Mutation(HGVS format) | NC_000007.13:g.152008888 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 245 |
| Amino acid changes in protein | S > F |
| Position in cDNA | 734 |
| Changes in cDNA | C > T |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4975597 |
| Variant occurences in COSMIC | 3(oesophagus) |
| EIGEN score | 0.2504 |
| CADD Raw score (version 1.3) | 3.71581 (Deleterious) |
| FATHMM raw prediction score | 0.99056 (Tolerated) |
| SIFT score | 0.028 (Deleterious) |
| LRT score | 0.069 (Tolerated) |
| MutationTaster score | 0.889 (Deleterious) |
| MutatioinAssessor score | 1.5 (Tolerated) |
| PROVEAN score | -2.81 (Deleterious) |
| MetaSVM score | -0.377 (Tolerated) |
| MetaLR score | 0.417 (Tolerated) |
| MCAP score | 0.018 (Tolerated) |
| FitCons score | 0.651 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.95 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.36 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.393 |
| Deleterious probability by iFish2 | 0.4269 (Deleterious) |
| Deleterious probability by DeFine | 0.9596 (Deleterious) |
| Entrez Gene ID | 58508 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MLL3 (GeneCards) |
| Number of variants in KMT2C in this database | 52 (view all the variants) |
| Full name | lysine methyltransferase 2C |
| Band | 7q36.1 |
| Other IDs | Vega: OTTHUMG00000150553 OMIM: 606833 HGNC: HGNC:13726 Ensembl: ENSG00000055609 |
| Other names | HALR, MLL3, KLEFS2 |
| Summary | This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008] |
| Individual ID | 25999502.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25999502 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 25999502 |
|---|---|
| Title | High burden and pervasive positive selection of somatic mutations in normal human skin |
| Journal | Science |
| Publication date | 2015.05 |
| Disease | Asymptomatic |
| Number of cases | Male cases: 1; Female cases: 3; |