| Variant ID | 795 |
|---|---|
| Entrez Gene ID | 960 |
| Gene | CD44 (GeneCards) |
| Location | hg19 11:35240880-35240880
hg38 11:35219333-35219333 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000011.9:g.35240880 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 631 |
| Amino acid changes in protein | Q > * |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6786 |
| CADD Raw score (version 1.3) | 11.920678 (Deleterious) |
| FATHMM raw prediction score | 0.39749 (Tolerated) |
| LRT score | 0.307 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.27 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.303 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.994 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.22 |
| Deleterious probability by DeFine | 0.8823 (Deleterious) |
| Entrez Gene ID | 960 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CD44 (GeneCards) |
| Number of variants in CD44 in this database | 4 (view all the variants) |
| Full name | CD44 molecule (Indian blood group) |
| Band | 11p13 |
| Other IDs | Vega: OTTHUMG00000044388 OMIM: 107269 HGNC: HGNC:1681 Ensembl: ENSG00000026508 |
| Other names | IN, LHR, MC56, MDU2, MDU3, MIC4, Pgp1, CDW44, CSPG8, HCELL, HUTCH-I, ECMR-III |
| Summary | The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [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; |