| Variant ID | 1582 |
|---|---|
| Entrez Gene ID | 23335 |
| Gene | WDR7 (GeneCards) |
| Location | hg19 18:54339834-54339834
hg38 18:56672603-56672603 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | Hiseq |
| Mutation(HGVS format) | NC_000018.9:g.54339834 G>A (Genome Assembly: GRCh37) |
| 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 | NM_015285.2 |
| mRNA length | 7282 |
| Reference length | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7409 |
| CADD Raw score (version 1.3) | 6.401657 (Deleterious) |
| FATHMM raw prediction score | 0.99142 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.46 (Deleterious) |
| PROVEAN score | -4.49 (Deleterious) |
| MetaSVM score | -1.187 (Tolerated) |
| MetaLR score | 0.077 (Tolerated) |
| MCAP score | 0.02 (Tolerated) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.72 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.622 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.484 |
| Deleterious probability by iFish2 | 0.9923 (Deleterious) |
| Deleterious probability by DeFine | 0.9627 (Deleterious) |
| Entrez Gene ID | 23335 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WDR7 (GeneCards) |
| Number of variants in WDR7 in this database | 5 (view all the variants) |
| Full name | WD repeat domain 7 |
| Band | 18q21.31 |
| Other IDs | Vega: OTTHUMG00000132721 OMIM: 613473 HGNC: HGNC:13490 Ensembl: ENSG00000091157 |
| Other names | TRAG |
| Summary | This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
| Individual ID | 28235832.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28235832 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28235832 |
|---|---|
| Title | One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. |
| Journal | Genome Research |
| Publication date | 2017.04 |
| Disease | Autism Spectrum Disorders |
| Number of cases | Male cases: 3; cases of unknown sex: 1; |