| Variant ID | 29796 |
|---|---|
| Entrez Gene ID | 56995 |
| Gene | TULP4 (GeneCards) |
| Location | hg19 6:158735185-158735185
hg38 6:158314153-158314153 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000006.11:g.158735185 T>C (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 1075420 |
| Variant occurences in COSMIC | 1(endometrium) |
| EIGEN score | 0.6327 |
| CADD Raw score (version 1.3) | 5.33093 (Deleterious) |
| FATHMM raw prediction score | 0.98491 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.7 (Tolerated) |
| PROVEAN score | -6.79 (Deleterious) |
| MetaSVM score | -1.038 (Tolerated) |
| MetaLR score | 0.078 (Tolerated) |
| MCAP score | 0.085 (Deleterious) |
| FitCons score | 0.563 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.67 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.924 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.911 |
| Deleterious probability by iFish2 | 0.9965 (Deleterious) |
| Deleterious probability by DeFine | 0.9632 (Deleterious) |
| Entrez Gene ID | 56995 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TULP4 (GeneCards) |
| Number of variants in TULP4 in this database | 4 (view all the variants) |
| Full name | tubby like protein 4 |
| Band | 6q25.3 |
| Other IDs | Vega: OTTHUMG00000015910 HGNC: HGNC:15530 Ensembl: ENSG00000130338 |
| Other names | TUSP |
| Summary | None |
| Individual ID | 28867142.40 (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; |