| Variant ID | 1254 |
|---|---|
| Entrez Gene ID | 23312 |
| Gene | DMXL2 (GeneCards) |
| Location | hg19 15:51791966-51791966
hg38 15:51499769-51499769 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000015.9:g.51791966 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1152 |
| Amino acid changes in protein | D > G |
| Position in cDNA | 3455 |
| Changes in cDNA | A > G |
| mRNA accession | NM_001174116.1 |
| mRNA length | 10599 |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2934 |
| CADD Raw score (version 1.3) | 4.953985 (Deleterious) |
| FATHMM raw prediction score | 0.92738 (Tolerated) |
| SIFT score | 0.026 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.795 (Tolerated) |
| PROVEAN score | -2.54 (Deleterious) |
| MetaSVM score | -1.096 (Tolerated) |
| MetaLR score | 0.071 (Tolerated) |
| MCAP score | 0.017 (Tolerated) |
| FitCons score | 0.657 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.24 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.857 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.133 |
| Deleterious probability by iFish2 | 0.1888 (Neutral) |
| Deleterious probability by DeFine | 0.9678 (Deleterious) |
| Entrez Gene ID | 23312 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DMXL2 (GeneCards) |
| Number of variants in DMXL2 in this database | 4 (view all the variants) |
| Full name | Dmx like 2 |
| Band | 15q21.2 |
| Other IDs | Vega: OTTHUMG00000131749 OMIM: 612186 HGNC: HGNC:2938 Ensembl: ENSG00000104093 |
| Other names | RC3, PEPNS, DFNA71 |
| Summary | This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] |
| Individual ID | 28867142.22 (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; |