| Variant ID | 10043 |
|---|---|
| Entrez Gene ID | 7162 |
| Gene | TPBG (GeneCards) |
| Location | hg19 6:83519864-83519864
hg38 6:82810145-82810145 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.83519864 T>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3388 |
| CADD Raw score (version 1.3) | 0.169206 (Deleterious) |
| FATHMM raw prediction score | 0.06678 (Tolerated) |
| Deleterious probability by DeFine | 0.0846 (Neutral) |
| Entrez Gene ID | 7162 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TPBG (GeneCards) |
| Number of variants in TPBG in this database | 10 (view all the variants) |
| Full name | trophoblast glycoprotein |
| Band | 6q14.1 |
| Other IDs | Vega: OTTHUMG00000015103 OMIM: 190920 HGNC: HGNC:12004 Ensembl: ENSG00000146242 |
| Other names | 5T4, M6P1, 5T4AG, WAIF1 |
| Summary | This gene encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009] |
| Individual ID | 29217584.16 (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; |