| Variant ID | 29872 |
|---|---|
| Entrez Gene ID | 55757 |
| Gene | UGGT2 (GeneCards) |
| Location | hg19 13:96506641-96506641
hg38 13:95854387-95854387 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000013.10:g.96506641 T>A (Genome Assembly: hg19) |
| 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5531 |
| CADD Raw score (version 1.3) | 6.074148 (Deleterious) |
| FATHMM raw prediction score | 0.96482 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.001 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.28 (Deleterious) |
| PROVEAN score | -6.53 (Deleterious) |
| MetaSVM score | -0.773 (Tolerated) |
| MetaLR score | 0.165 (Tolerated) |
| MCAP score | 0.063 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.18 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.947 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.011 |
| Deleterious probability by iFish2 | 0.8323 (Deleterious) |
| Deleterious probability by DeFine | 0.9401 (Deleterious) |
| Entrez Gene ID | 55757 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UGGT2 (GeneCards) |
| Number of variants in UGGT2 in this database | 3 (view all the variants) |
| Full name | UDP-glucose glycoprotein glucosyltransferase 2 |
| Band | 13q32.1 |
| Other IDs | Vega: OTTHUMG00000017230 OMIM: 605898 HGNC: HGNC:15664 Ensembl: ENSG00000102595 |
| Other names | UGT2, HUGT2, UGCGL2 |
| Summary | UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009] |
| Individual ID | 28867142.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |