| Variant ID | 29477 |
|---|---|
| Entrez Gene ID | 26123 |
| Gene | TCTN3 (GeneCards) |
| Location | hg19 10:97446866-97446866
hg38 10:95687109-95687109 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000010.10:g.97446866 C>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5378 |
| CADD Raw score (version 1.3) | 0.950954 (Deleterious) |
| FATHMM raw prediction score | 0.0418 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0.573 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.825 (Tolerated) |
| PROVEAN score | -3.13 (Deleterious) |
| MetaSVM score | -1.002 (Tolerated) |
| MetaLR score | 0.043 (Tolerated) |
| MCAP score | 0.015 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.86 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.231 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.291 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.536 |
| Deleterious probability by iFish2 | 0.016 (Neutral) |
| Deleterious probability by DeFine | 0.6766 (Deleterious) |
| Entrez Gene ID | 26123 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TCTN3 (GeneCards) |
| Number of variants in TCTN3 in this database | 1 (view all the variants) |
| Full name | tectonic family member 3 |
| Band | 10q24.1 |
| Other IDs | Vega: OTTHUMG00000018814 OMIM: 613847 HGNC: HGNC:24519 Ensembl: ENSG00000119977 |
| Other names | OFD4, TECT3, JBTS18, C10orf61 |
| Summary | This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012] |
| Individual ID | 28714951.153 (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; |