| Variant ID | 5754 |
|---|---|
| Entrez Gene ID | 152330 |
| Gene | CNTN4 (GeneCards) |
| Location | hg19 3:2210050-2210050
hg38 3:2168366-2168366 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.2210050 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| 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 | -0.35 |
| CADD Raw score (version 1.3) | -0.09851 (Deleterious) |
| FATHMM raw prediction score | 0.06032 (Tolerated) |
| Deleterious probability by DeFine | 0.22 (Neutral) |
| 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 | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |