| Variant ID | 944 |
|---|---|
| Entrez Gene ID | 54550 |
| Gene | NECAB2 (GeneCards) |
| Location | hg19 16:84031831-84031831
hg38 16:83998226-83998226 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000016.9:g.84031831 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 291 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| EIGEN score | 0.6605 |
| CADD Raw score (version 1.3) | 6.670331 (Deleterious) |
| FATHMM raw prediction score | 0.96098 (Tolerated) |
| SIFT score | 0.115 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.935 (Tolerated) |
| PROVEAN score | -1.43 (Tolerated) |
| MetaSVM score | -0.775 (Tolerated) |
| MetaLR score | 0.176 (Tolerated) |
| MCAP score | 0.036 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.64 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.158 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.659 |
| Deleterious probability by iFish2 | 0.794 (Deleterious) |
| Deleterious probability by DeFine | 0.953 (Deleterious) |
| Entrez Gene ID | 54550 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NECAB2 (GeneCards) |
| Number of variants in NECAB2 in this database | 2 (view all the variants) |
| Full name | N-terminal EF-hand calcium binding protein 2 |
| Band | 16q23.3 |
| Other IDs | Vega: OTTHUMG00000137636 HGNC: HGNC:23746 Ensembl: ENSG00000103154 |
| Other names | EFCBP2, stip-2 |
| Summary | The protein encoded by this gene is a neuronal calcium-binding protein that binds to and modulates the function of at least two receptors, adenosine A(2A) receptor and metabotropic glutamate receptor type 5. [provided by RefSeq, Jul 2016] |
| 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; |