| Variant ID | 851 |
|---|---|
| Entrez Gene ID | 152330 |
| Gene | CNTN4 (GeneCards) |
| Location | hg19 3:2861235-2861235
hg38 3:2819551-2819551 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.2861235 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 142 |
| Amino acid changes in protein | L > I |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6051 |
| CADD Raw score (version 1.3) | 5.865614 (Deleterious) |
| FATHMM raw prediction score | 0.83177 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 2.615 (Deleterious) |
| PROVEAN score | -1.73 (Tolerated) |
| MetaSVM score | 0.549 (Deleterious) |
| MetaLR score | 0.748 (Deleterious) |
| MCAP score | 0.079 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.86 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.128 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.959 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.085 |
| Deleterious probability by iFish2 | 0.1995 (Neutral) |
| Deleterious probability by DeFine | 0.832 (Deleterious) |
| Entrez Gene ID | 152330 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CNTN4 (GeneCards) |
| Number of variants in CNTN4 in this database | 11 (view all the variants) |
| Full name | contactin 4 |
| Band | 3p26.3-p26.2 |
| Other IDs | Vega: OTTHUMG00000119031 OMIM: 607280 HGNC: HGNC:2174 Ensembl: ENSG00000144619 |
| Other names | AXCAM, BIG-2 |
| Summary | This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011] |
| 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; |