| Variant ID | 29777 |
|---|---|
| Entrez Gene ID | 3340 |
| Gene | NDST1 (GeneCards) |
| Location | hg19 5:149912558-149912558
hg38 5:150532996-150532996 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000005.9:g.149912558 T>C (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5382 |
| CADD Raw score (version 1.3) | 6.491698 (Deleterious) |
| FATHMM raw prediction score | 0.9912 (Tolerated) |
| SIFT score | 0.02 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.375 (Deleterious) |
| PROVEAN score | -4.81 (Deleterious) |
| MetaSVM score | -0.239 (Tolerated) |
| MetaLR score | 0.332 (Tolerated) |
| MCAP score | 0.051 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.1 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.969 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.196 |
| Deleterious probability by iFish2 | 0.9475 (Deleterious) |
| Deleterious probability by DeFine | 0.9488 (Deleterious) |
| Entrez Gene ID | 3340 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NDST1 (GeneCards) |
| Number of variants in NDST1 in this database | 1 (view all the variants) |
| Full name | N-deacetylase and N-sulfotransferase 1 |
| Band | 5q33.1 |
| Other IDs | Vega: OTTHUMG00000163572 OMIM: 600853 HGNC: HGNC:7680 Ensembl: ENSG00000070614 |
| Other names | HSST, NST1, MRT46 |
| Summary | This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3'-phosphoadenosine 5'-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
| Individual ID | 28867142.36 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |