| Variant ID | 29837 |
|---|---|
| Entrez Gene ID | 1755 |
| Gene | DMBT1 (GeneCards) |
| Location | hg19 10:124345854-124345854
hg38 10:122586338-122586338 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000010.10:g.124345854 T>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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0.0002 |
|---|---|
| EIGEN score | -1.1809 |
| CADD Raw score (version 1.3) | -0.547295 (Deleterious) |
| FATHMM raw prediction score | 0.00915 (Tolerated) |
| SIFT score | 0.46 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.445 (Tolerated) |
| PROVEAN score | -0.01 (Tolerated) |
| MetaSVM score | -1.001 (Tolerated) |
| MetaLR score | 0.061 (Tolerated) |
| MCAP score | 0.008 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.9 |
| PhyloP score based on multiple alignment of 100 vertebrates | -2.596 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.804 |
| Deleterious probability by iFish2 | 0.0054 (Neutral) |
| Deleterious probability by DeFine | 0.7422 (Deleterious) |
| Entrez Gene ID | 1755 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DMBT1 (GeneCards) |
| Number of variants in DMBT1 in this database | 3 (view all the variants) |
| Full name | deleted in malignant brain tumors 1 |
| Band | 10q26.13 |
| Other IDs | Vega: OTTHUMG00000019185 OMIM: 601969 HGNC: HGNC:2926 Ensembl: ENSG00000187908 |
| Other names | SAG, GP340, SALSA, mclin |
| Summary | Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The encoded protein precursor is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016] |
| Individual ID | 28867142.10 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |