| Variant ID | 879 |
|---|---|
| Entrez Gene ID | 284417 |
| Gene | TMEM150B (GeneCards) |
| Location | hg19 19:55828205-55828205
hg38 19:55316837-55316837 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.55828205 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 152 |
| Amino acid changes in protein | G > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.5925 |
| CADD Raw score (version 1.3) | -1.161124 (Deleterious) |
| FATHMM raw prediction score | 0.00654 (Tolerated) |
| SIFT score | 0.576 (Tolerated) |
| LRT score | 0.679 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.58 (Tolerated) |
| PROVEAN score | -1.64 (Tolerated) |
| MetaSVM score | -1.054 (Tolerated) |
| MetaLR score | 0.05 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.534 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -9.11 |
| PhyloP score based on multiple alignment of 100 vertebrates | -1.827 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.968 |
| Deleterious probability by iFish2 | 0.0842 (Neutral) |
| Deleterious probability by DeFine | 0.9051 (Deleterious) |
| Entrez Gene ID | 284417 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMEM150B (GeneCards) |
| Number of variants in TMEM150B in this database | 2 (view all the variants) |
| Full name | transmembrane protein 150B |
| Band | 19q13.42 |
| Other IDs | Vega: OTTHUMG00000180709 OMIM: 617291 HGNC: HGNC:34415 Ensembl: ENSG00000180061 |
| Other names | TTN2, DRAM3, TMEM224 |
| Summary | This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
| Individual ID | 27788131.01 (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; |