| Variant ID | 29118 |
|---|---|
| Entrez Gene ID | 8100 |
| Gene | IFT88 (GeneCards) |
| Location | hg19 13:21205235-21205235
hg38 13:20631096-20631096 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | HiSeq Pyrosequencing |
| Mutation(HGVS format) | NC_000013.10:g.21205235 T>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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5069 |
| CADD Raw score (version 1.3) | 11.271493 (Deleterious) |
| FATHMM raw prediction score | 0.98073 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.91 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.516 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.785 |
| Deleterious probability by DeFine | 0.8104 (Deleterious) |
| Entrez Gene ID | 8100 (NCBI Gene) |
|---|---|
| Official Gene Symbol | IFT88 (GeneCards) |
| Number of variants in IFT88 in this database | 2 (view all the variants) |
| Full name | intraflagellar transport 88 |
| Band | 13q12.11 |
| Other IDs | Vega: OTTHUMG00000016517 OMIM: 600595 HGNC: HGNC:20606 Ensembl: ENSG00000032742 |
| Other names | DAF19, TG737, TTC10, hTg737, D13S1056E |
| Summary | This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017] |
| Individual ID | 27632392.11 (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; |