| Variant ID | 29373 |
|---|---|
| Entrez Gene ID | 25896 |
| Gene | INTS7 (GeneCards) |
| Location | hg19 1:212190300-212190300
hg38 1:212016958-212016958 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.212190300 C>G (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8486 |
| CADD Raw score (version 1.3) | 6.516957 (Deleterious) |
| FATHMM raw prediction score | 0.98481 (Tolerated) |
| SIFT score | 0.005 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.845 (Tolerated) |
| PROVEAN score | -1.9 (Tolerated) |
| MetaSVM score | -0.9 (Tolerated) |
| MetaLR score | 0.179 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.88 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.542 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.228 |
| Deleterious probability by iFish2 | 0.9096 (Deleterious) |
| Deleterious probability by DeFine | 0.9296 (Deleterious) |
| Entrez Gene ID | 25896 (NCBI Gene) |
|---|---|
| Official Gene Symbol | INTS7 (GeneCards) |
| Number of variants in INTS7 in this database | 3 (view all the variants) |
| Full name | integrator complex subunit 7 |
| Band | 1q32.3 |
| Other IDs | Vega: OTTHUMG00000037119 OMIM: 611350 HGNC: HGNC:24484 Ensembl: ENSG00000143493 |
| Other names | INT7, C1orf73 |
| Summary | This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010] |
| Individual ID | 28714951.49 (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; |