| Variant ID | 29502 |
|---|---|
| Entrez Gene ID | 7007 |
| Gene | TECTA (GeneCards) |
| Location | hg19 11:121039453-121039453
hg38 11:121168744-121168744 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.121039453 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006458 |
|---|---|
| EIGEN score | 0.4936 |
| CADD Raw score (version 1.3) | 4.59362 (Deleterious) |
| FATHMM raw prediction score | 0.91942 (Tolerated) |
| SIFT score | 0.009 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.993 (Deleterious) |
| MutatioinAssessor score | 1.245 (Tolerated) |
| PROVEAN score | -0.75 (Tolerated) |
| MetaSVM score | 0.041 (Deleterious) |
| MetaLR score | 0.485 (Tolerated) |
| MCAP score | 0.046 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.81 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.736 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.757 |
| Deleterious probability by iFish2 | 0.9648 (Deleterious) |
| Deleterious probability by DeFine | 0.9432 (Deleterious) |
| Entrez Gene ID | 7007 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TECTA (GeneCards) |
| Number of variants in TECTA in this database | 5 (view all the variants) |
| Full name | tectorin alpha |
| Band | 11q23.3 |
| Other IDs | Vega: OTTHUMG00000149908 OMIM: 602574 HGNC: HGNC:11720 Ensembl: ENSG00000109927 |
| Other names | DFNA8, DFNA12, DFNB21 |
| Summary | The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.178 (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; |