Overview

Variant ID 1022
Entrez Gene ID 84190
Gene METTL25 (GeneCards)
Location hg19 12:82796804-82796804
hg38 12:82403025-82403025
Disease Human Skin Fibroblasts (view all the variants in this disease)
Method HiSeq 2500
Mutation(HGVS format) NC_000012.11:g.82796804 C>T (Genome Assembly: hg19)

Other information

Exon or Intron Exon
Position in protein 392
Amino acid changes in protein P > S
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 133851895

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.1095
CADD Raw score (version 1.3) 2.505577 (Deleterious)
FATHMM raw prediction score 0.77626 (Tolerated)
SIFT score 0.102 (Tolerated)
LRT score 0.003 (Tolerated)
MutationTaster score 0.936 (Deleterious)
MutatioinAssessor score 1.755 (Tolerated)
PROVEAN score -4.27 (Deleterious)
MetaSVM score -1.017 (Tolerated)
MetaLR score 0.083 (Tolerated)
MCAP score 0.013 (Tolerated)
FitCons score 0.651 (Highly Significant p < 0.003 )
Genomic Evolutionary Rate Profiling (GERP) score 1.44
PhyloP score based on multiple alignment of 100 vertebrates 0.757
PhastCons score based on multiple alignment of 100 vertebrates 1
SiPhy log transformed odds ratio on multiple alignment of 29 mammals 6.676
Deleterious probability by iFish2 0.1812 (Neutral)
Deleterious probability by DeFine 0.7887 (Deleterious)
Entrez Gene ID 84190 (NCBI Gene)
Official Gene Symbol METTL25 (GeneCards)
Number of variants in METTL25 in this database 3 (view all the variants)
Full name methyltransferase like 25
Band 12q21.31
Other IDs Vega: OTTHUMG00000170252
HGNC: HGNC:26228
Ensembl: ENSG00000127720
Other names C12orf26
Summary None

Individual #1

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

Publication #1: 27788131

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;