| Variant ID | 29698 |
|---|---|
| Entrez Gene ID | 7109 |
| Gene | TRAPPC10 (GeneCards) |
| Location | hg19 21:45502691-45502691
hg38 21:44082810-44082810 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000021.8:g.45502691 G>A (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 | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0081 |
| CADD Raw score (version 1.3) | 2.468146 (Deleterious) |
| FATHMM raw prediction score | 0.98843 (Tolerated) |
| SIFT score | 0.157 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.34 (Deleterious) |
| PROVEAN score | -1.14 (Tolerated) |
| MetaSVM score | -1.071 (Tolerated) |
| MetaLR score | 0.081 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.58 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.213 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.179 |
| Deleterious probability by iFish2 | 0.4875 (Neutral) |
| Deleterious probability by DeFine | 0.9585 (Deleterious) |
| Entrez Gene ID | 7109 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRAPPC10 (GeneCards) |
| Number of variants in TRAPPC10 in this database | 3 (view all the variants) |
| Full name | trafficking protein particle complex 10 |
| Band | 21q22.3 |
| Other IDs | Vega: OTTHUMG00000086894 OMIM: 602103 HGNC: HGNC:11868 Ensembl: ENSG00000160218 |
| Other names | EHOC1, GT334, TMEM1, TRS30, EHOC-1, TRS130 |
| Summary | The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.374 (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; |