| Variant ID | 29491 |
|---|---|
| Entrez Gene ID | 3697 |
| Gene | ITIH1 (GeneCards) |
| Location | hg19 3:52813031-52813031
hg38 3:52779015-52779015 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000003.11:g.52813031 G>C (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6184 |
| CADD Raw score (version 1.3) | 5.607034 (Deleterious) |
| FATHMM raw prediction score | 0.86699 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0.001 (Deleterious) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.3 (Deleterious) |
| PROVEAN score | -1.67 (Tolerated) |
| MetaSVM score | -1.04 (Tolerated) |
| MetaLR score | 0.129 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.447 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.37 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.057 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.991 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.629 |
| Deleterious probability by iFish2 | 0.9087 (Deleterious) |
| Deleterious probability by DeFine | 0.93 (Deleterious) |
| Entrez Gene ID | 3697 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ITIH1 (GeneCards) |
| Number of variants in ITIH1 in this database | 1 (view all the variants) |
| Full name | inter-alpha-trypsin inhibitor heavy chain 1 |
| Band | 3p21.1 |
| Other IDs | Vega: OTTHUMG00000150312 OMIM: 147270 HGNC: HGNC:6166 Ensembl: ENSG00000055957 |
| Other names | H1P, ITIH, SHAP, IATIH, IGHEP1, ITI-HC1 |
| Summary | This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015] |
| Individual ID | 28714951.167 (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; |