| Variant ID | 11010 |
|---|---|
| Entrez Gene ID | 10457 |
| Gene | GPNMB (GeneCards) |
| Location | hg19 7:23306417-23306417
hg38 7:23266798-23266798 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.23306417 C>T (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2601 |
| CADD Raw score (version 1.3) | -0.340361 (Deleterious) |
| FATHMM raw prediction score | 0.12297 (Tolerated) |
| Deleterious probability by DeFine | 0.7172 (Deleterious) |
| Entrez Gene ID | 10457 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GPNMB (GeneCards) |
| Number of variants in GPNMB in this database | 3 (view all the variants) |
| Full name | glycoprotein nmb |
| Band | 7p15.3 |
| Other IDs | Vega: OTTHUMG00000022811 OMIM: 604368 HGNC: HGNC:4462 Ensembl: ENSG00000136235 |
| Other names | NMB, HGFIN, PLCA3 |
| Summary | The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |