| Variant ID | 29946 |
|---|---|
| Entrez Gene ID | 3547 |
| Gene | IGSF1 (GeneCards) |
| Location | hg19 X:130419865-130419865
hg38 X:131285891-131285891 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000023.10:g.130419865 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 3.85974 (Deleterious) |
| FATHMM raw prediction score | 0.70198 (Tolerated) |
| SIFT score | 0.435 (Tolerated) |
| LRT score | 0.022 (Tolerated) |
| MutationTaster score | 0.744 (Deleterious) |
| MutatioinAssessor score | 1.195 (Tolerated) |
| PROVEAN score | -0.59 (Tolerated) |
| MetaSVM score | -1.022 (Tolerated) |
| MetaLR score | 0.038 (Tolerated) |
| MCAP score | 0.207 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.44 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.187 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.957 |
| Deleterious probability by iFish2 | 0.2587 (Neutral) |
| Deleterious probability by DeFine | 0.9102 (Deleterious) |
| Entrez Gene ID | 3547 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IGSF1 (GeneCards) |
| Number of variants in IGSF1 in this database | 6 (view all the variants) |
| Full name | immunoglobulin superfamily member 1 |
| Band | Xq26.1 |
| Other IDs | Vega: OTTHUMG00000022406 OMIM: 300137 HGNC: HGNC:5948 Ensembl: ENSG00000147255 |
| Other names | CHTE, p120, IGCD1, IGDC1, INHBP, PGSF2 |
| Summary | This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] |
| Individual ID | 28867142.25 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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 | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |