| Variant ID | 5682 |
|---|---|
| Entrez Gene ID | 2122 |
| Gene | MECOM (GeneCards) |
| Location | hg19 3:168938293-168938293
hg38 3:169220505-169220505 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.168938293 C>T (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1532 |
| CADD Raw score (version 1.3) | 0.273816 (Deleterious) |
| FATHMM raw prediction score | 0.12561 (Tolerated) |
| Deleterious probability by DeFine | 0.1464 (Neutral) |
| Entrez Gene ID | 2122 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MECOM (GeneCards) |
| Number of variants in MECOM in this database | 8 (view all the variants) |
| Full name | MDS1 and EVI1 complex locus |
| Band | 3q26.2 |
| Other IDs | Vega: OTTHUMG00000158596 OMIM: 165215 HGNC: HGNC:3498 Ensembl: ENSG00000085276 |
| Other names | EVI1, MDS1, KMT8E, PRDM3, RUSAT2, MDS1-EVI1, AML1-EVI-1 |
| Summary | The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011] |
| 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; |