| Variant ID | 820 |
|---|---|
| Entrez Gene ID | 79633 |
| Gene | FAT4 (GeneCards) |
| Location | hg19 4:126239473-126239473
hg38 4:125318318-125318318 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000004.11:g.126239473 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 636 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1309694 |
| Variant occurences in COSMIC | 1(urinary_tract) |
| EIGEN score | 0.3018 |
| CADD Raw score (version 1.3) | 2.543821 (Deleterious) |
| FATHMM raw prediction score | 0.88829 (Tolerated) |
| SIFT score | 0.189 (Tolerated) |
| LRT score | 0.073 |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.18 (Deleterious) |
| PROVEAN score | -2.36 (Tolerated) |
| MetaSVM score | -0.652 (Tolerated) |
| MetaLR score | 0.213 (Tolerated) |
| MCAP score | 0.039 (Deleterious) |
| FitCons score | 0.677 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.92 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.954 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.998 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.456 |
| Deleterious probability by iFish2 | 0.4875 (Neutral) |
| Deleterious probability by DeFine | 0.9531 (Deleterious) |
| Entrez Gene ID | 79633 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FAT4 (GeneCards) |
| Number of variants in FAT4 in this database | 149 (view all the variants) |
| Full name | FAT atypical cadherin 4 |
| Band | 4q28.1 |
| Other IDs | Vega: OTTHUMG00000133100 OMIM: 612411 HGNC: HGNC:23109 Ensembl: ENSG00000196159 |
| Other names | FATJ, FAT-J, CDHF14, CDHR11, HKLLS2, VMLDS2, NBLA00548 |
| Summary | The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014] |
| 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; |