| Variant ID | 29108 |
|---|---|
| Entrez Gene ID | 26512 |
| Gene | INTS6 (GeneCards) |
| Location | hg19 13:51948834-51948834
hg38 13:51374698-51374698 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | HiSeq Pyrosequencing |
| Mutation(HGVS format) | NC_000013.10:g.51948834 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9218 |
| CADD Raw score (version 1.3) | 13.428341 (Deleterious) |
| FATHMM raw prediction score | 0.98705 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.04 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.996 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.732 |
| Deleterious probability by DeFine | 0.953 (Deleterious) |
| Entrez Gene ID | 26512 (NCBI Gene) |
|---|---|
| Official Gene Symbol | INTS6 (GeneCards) |
| Number of variants in INTS6 in this database | 4 (view all the variants) |
| Full name | integrator complex subunit 6 |
| Band | 13q14.3 |
| Other IDs | Vega: OTTHUMG00000016945 OMIM: 604331 HGNC: HGNC:14879 Ensembl: ENSG00000102786 |
| Other names | HDB, INT6, DBI-1, DDX26, DICE1, DDX26A, Notchl2 |
| Summary | DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015] |
| Individual ID | 27632392.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27632392 |
| Whose mosaic mutation | 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 | 27632392 |
|---|---|
| Title | The Contribution of Mosaic Variants to Autism Spectrum Disorder |
| Journal | PLoS Genetics |
| Publication date | 2016.09 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 16; |