| Variant ID | 29341 |
|---|---|
| Entrez Gene ID | 51809 |
| Gene | GALNT7 (GeneCards) |
| Location | hg19 4:174223211-174223211
hg38 4:173302060-173302060 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000004.11:g.174223211 G>T (Genome Assembly: hg19) |
| 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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6643 |
| CADD Raw score (version 1.3) | 6.835904 (Deleterious) |
| FATHMM raw prediction score | 0.98896 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.375 (Deleterious) |
| PROVEAN score | -2.83 (Deleterious) |
| MetaSVM score | -0.316 (Tolerated) |
| MetaLR score | 0.425 (Tolerated) |
| MCAP score | 0.103 (Deleterious) |
| FitCons score | 0.758 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.97 |
| PhyloP score based on multiple alignment of 100 vertebrates | 10.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.424 |
| Deleterious probability by iFish2 | 0.2926 (Neutral) |
| Deleterious probability by DeFine | 0.945 (Deleterious) |
| Entrez Gene ID | 51809 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GALNT7 (GeneCards) |
| Number of variants in GALNT7 in this database | 2 (view all the variants) |
| Full name | polypeptide N-acetylgalactosaminyltransferase 7 |
| Band | 4q34.1 |
| Other IDs | Vega: OTTHUMG00000160817 OMIM: 605005 HGNC: HGNC:4129 Ensembl: ENSG00000109586 |
| Other names | GalNAcT7, GALNAC-T7 |
| Summary | This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |