| Variant ID | 29741 |
|---|---|
| Entrez Gene ID | 9940 |
| Gene | DLEC1 (GeneCards) |
| Location | hg19 3:38105382-38105382
hg38 3:38063891-38063891 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000003.11:g.38105382 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003234 |
|---|---|
| EIGEN score | 0.4998 |
| CADD Raw score (version 1.3) | 5.914605 (Deleterious) |
| FATHMM raw prediction score | 0.88274 (Tolerated) |
| SIFT score | 0.013 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.881 (Deleterious) |
| MutatioinAssessor score | 2.75 (Deleterious) |
| PROVEAN score | -2.66 (Deleterious) |
| MetaSVM score | -1.042 (Tolerated) |
| MetaLR score | 0.043 (Tolerated) |
| MCAP score | 0.01 (Tolerated) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.67 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.888 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.943 |
| Deleterious probability by iFish2 | 0.0718 (Neutral) |
| Deleterious probability by DeFine | 0.9525 (Deleterious) |
| Entrez Gene ID | 9940 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DLEC1 (GeneCards) |
| Number of variants in DLEC1 in this database | 1 (view all the variants) |
| Full name | DLEC1, cilia and flagella associated protein |
| Band | 3p22.2 |
| Other IDs | Vega: OTTHUMG00000131085 OMIM: 604050 HGNC: HGNC:2899 Ensembl: ENSG00000008226 |
| Other names | F56, DLC1, DLC-1, CFAP81 |
| Summary | The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of aberrant promoter methylation. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins.[provided by RefSeq, Mar 2016] |
| Individual ID | 28867142.29 (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; |