| Variant ID | 802 |
|---|---|
| Entrez Gene ID | 4799 |
| Gene | NFX1 (GeneCards) |
| Location | hg19 9:33294535-33294535
hg38 9:33294537-33294537 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000009.11:g.33294535 A>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 48 |
| Amino acid changes in protein | Y > C |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2053 |
| CADD Raw score (version 1.3) | 3.122201 (Deleterious) |
| FATHMM raw prediction score | 0.81611 (Tolerated) |
| SIFT score | 0.125 (Tolerated) |
| LRT score | 0.007 (Tolerated) |
| MutationTaster score | 0.996 (Tolerated) |
| MutatioinAssessor score | 2.08 (Deleterious) |
| PROVEAN score | -1.74 (Tolerated) |
| MetaSVM score | -1.092 (Tolerated) |
| MetaLR score | 0.051 (Tolerated) |
| MCAP score | 0.009 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.28 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.121 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.901 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.019 |
| Deleterious probability by iFish2 | 0.0597 (Neutral) |
| Deleterious probability by DeFine | 0.917 (Deleterious) |
| Entrez Gene ID | 4799 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NFX1 (GeneCards) |
| Number of variants in NFX1 in this database | 1 (view all the variants) |
| Full name | nuclear transcription factor, X-box binding 1 |
| Band | 9p13.3 |
| Other IDs | Vega: OTTHUMG00000019772 OMIM: 603255 HGNC: HGNC:7803 Ensembl: ENSG00000086102 |
| Other names | NFX2, Tex42, TEG-42 |
| Summary | MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008] |
| 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; |