| Variant ID | 29231 |
|---|---|
| Entrez Gene ID | 10457 |
| Gene | GPNMB (GeneCards) |
| Location | hg19 7:23296615-23296615
hg38 7:23256996-23256996 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000007.13:g.23296615 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1312973 |
| Variant occurences in COSMIC | 2(urinary_tract) |
| EIGEN score | 0.4955 |
| CADD Raw score (version 1.3) | 5.244748 (Deleterious) |
| FATHMM raw prediction score | 0.96984 (Tolerated) |
| SIFT score | 0.052 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.755 (Deleterious) |
| PROVEAN score | -4.14 (Deleterious) |
| MetaSVM score | -0.689 (Tolerated) |
| MetaLR score | 0.187 (Tolerated) |
| MCAP score | 0.036 (Deleterious) |
| FitCons score | 0.625 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.23 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.53 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.154 |
| Deleterious probability by iFish2 | 0.8101 (Deleterious) |
| Deleterious probability by DeFine | 0.9663 (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 | 28503910.108 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |