| Variant ID | 29546 |
|---|---|
| Entrez Gene ID | 55151 |
| Gene | TMEM38B (GeneCards) |
| Location | hg19 9:108536306-108536306
hg38 9:105774025-105774025 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.108536306 C>T (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3902766 |
| Variant occurences in COSMIC | 1(stomach) |
| EIGEN score | -1.1446 |
| CADD Raw score (version 1.3) | 2.20166 (Deleterious) |
| FATHMM raw prediction score | 0.01443 (Tolerated) |
| SIFT score | 0.007 (Deleterious) |
| LRT score | 0.941 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.805 (Tolerated) |
| PROVEAN score | -1.39 (Tolerated) |
| MetaSVM score | -1.017 (Tolerated) |
| MetaLR score | 0.06 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.693 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.929 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.01 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.698 |
| Deleterious probability by iFish2 | 0.0437 (Neutral) |
| Deleterious probability by DeFine | 0.7295 (Deleterious) |
| Entrez Gene ID | 55151 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMEM38B (GeneCards) |
| Number of variants in TMEM38B in this database | 5 (view all the variants) |
| Full name | transmembrane protein 38B |
| Band | 9q31.2 |
| Other IDs | Vega: OTTHUMG00000020429 OMIM: 611236 HGNC: HGNC:25535 Ensembl: ENSG00000095209 |
| Other names | OI14, TRICB, TRIC-B, C9orf87, D4Ertd89e, bA219P18.1 |
| Summary | This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012] |
| Individual ID | 28714951.222 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |