| Variant ID | 29764 |
|---|---|
| Entrez Gene ID | 987 |
| Gene | LRBA (GeneCards) |
| Location | hg19 4:151749715-151749715
hg38 4:150828563-150828563 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000004.11:g.151749715 G>T (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.8724 |
| CADD Raw score (version 1.3) | 1.36499 (Deleterious) |
| FATHMM raw prediction score | 0.17349 (Tolerated) |
| SIFT score | 0.538 (Tolerated) |
| LRT score | 0.001 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.87 (Tolerated) |
| PROVEAN score | -0.93 (Tolerated) |
| MetaSVM score | -1.08 (Tolerated) |
| MetaLR score | 0.114 (Tolerated) |
| MCAP score | 0.015 (Tolerated) |
| FitCons score | 0.731 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -2.87 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.467 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.251 |
| Deleterious probability by iFish2 | 0.1394 (Neutral) |
| Deleterious probability by DeFine | 0.7731 (Deleterious) |
| Entrez Gene ID | 987 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LRBA (GeneCards) |
| Number of variants in LRBA in this database | 6 (view all the variants) |
| Full name | LPS responsive beige-like anchor protein |
| Band | 4q31.3 |
| Other IDs | Vega: OTTHUMG00000161443 OMIM: 606453 HGNC: HGNC:1742 Ensembl: ENSG00000198589 |
| Other names | BGL, LBA, CDC4L, CVID8, LAB300 |
| Summary | The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] |
| Individual ID | 28867142.33 (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; |