| Variant ID | 29210 |
|---|---|
| Entrez Gene ID | 348180 |
| Gene | CTU2 (GeneCards) |
| Location | hg19 16:88779854-88779854
hg38 16:88713446-88713446 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000016.9:g.88779854 C>T (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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006484 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs138600785 |
| EIGEN score | 0.7465 |
| CADD Raw score (version 1.3) | 7.069409 (Deleterious) |
| FATHMM raw prediction score | 0.95227 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.07 (Deleterious) |
| PROVEAN score | -3.69 (Deleterious) |
| MetaSVM score | -0.337 (Tolerated) |
| MetaLR score | 0.329 (Tolerated) |
| MCAP score | 0.118 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.04 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.263 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.158 |
| Deleterious probability by iFish2 | 0.7748 (Deleterious) |
| Deleterious probability by DeFine | 0.965 (Deleterious) |
| Entrez Gene ID | 348180 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CTU2 (GeneCards) |
| Number of variants in CTU2 in this database | 1 (view all the variants) |
| Full name | cytosolic thiouridylase subunit 2 |
| Band | 16q24.3 |
| Other IDs | Vega: OTTHUMG00000173417 OMIM: 617057 HGNC: HGNC:28005 Ensembl: ENSG00000174177 |
| Other names | NCS2, UPF0432, C16orf84 |
| Summary | This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] |
| Individual ID | 28503910.87 (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; |