| Variant ID | 1141 |
|---|---|
| Entrez Gene ID | 245932 |
| Gene | DEFB119 (GeneCards) |
| Location | hg19 20:29977020-29977020
hg38 20:31389217-31389217 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000020.10:g.29977020 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 25 |
| Amino acid changes in protein | M > I |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4289 |
| CADD Raw score (version 1.3) | 2.180606 (Deleterious) |
| FATHMM raw prediction score | 0.10503 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.011 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| PROVEAN score | -2.25 (Tolerated) |
| MetaSVM score | -0.999 (Tolerated) |
| MetaLR score | 0.028 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.91 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.571 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.124 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.83 |
| Deleterious probability by iFish2 | 0.0254 (Neutral) |
| Deleterious probability by DeFine | 0.8034 (Deleterious) |
| Entrez Gene ID | 245932 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DEFB119 (GeneCards) |
| Number of variants in DEFB119 in this database | 2 (view all the variants) |
| Full name | defensin beta 119 |
| Band | 20q11.21 |
| Other IDs | Vega: OTTHUMG00000032172 OMIM: 615997 HGNC: HGNC:18099 Ensembl: ENSG00000180483 |
| Other names | DEFB20, DEFB-19, DEFB-20, DEFB120, ESC42-RELA, ESC42-RELB |
| Summary | This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014] |
| 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; |