| Variant ID | 940 |
|---|---|
| Entrez Gene ID | 54822 |
| Gene | TRPM7 (GeneCards) |
| Location | hg19 15:50906447-50906447
hg38 15:50614250-50614250 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000015.9:g.50906447 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 503 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7826 |
| CADD Raw score (version 1.3) | 3.656632 (Deleterious) |
| FATHMM raw prediction score | 0.99797 (Tolerated) |
| SIFT score | 0.016 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.48 (Tolerated) |
| PROVEAN score | -5.26 (Deleterious) |
| MetaSVM score | -0.52 (Tolerated) |
| MetaLR score | 0.29 (Tolerated) |
| MCAP score | 0.029 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.99 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.117 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.466 |
| Deleterious probability by iFish2 | 0.0524 (Neutral) |
| Deleterious probability by DeFine | 0.9486 (Deleterious) |
| Entrez Gene ID | 54822 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRPM7 (GeneCards) |
| Number of variants in TRPM7 in this database | 2 (view all the variants) |
| Full name | transient receptor potential cation channel subfamily M member 7 |
| Band | 15q21.2 |
| Other IDs | Vega: OTTHUMG00000172449 OMIM: 605692 HGNC: HGNC:17994 Ensembl: ENSG00000092439 |
| Other names | CHAK, CHAK1, ALSPDC, LTRPC7, LTrpC-7, TRP-PLIK |
| Summary | This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |