| Variant ID | 29776 |
|---|---|
| Entrez Gene ID | 83697 |
| Gene | SLC4A9 (GeneCards) |
| Location | hg19 5:139750705-139750705
hg38 5:140371120-140371120 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000005.9:g.139750705 G>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.0369 |
| CADD Raw score (version 1.3) | 6.595838 (Deleterious) |
| FATHMM raw prediction score | 0.99269 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.7 (Deleterious) |
| PROVEAN score | -6.24 (Deleterious) |
| MetaSVM score | 0.978 (Deleterious) |
| MetaLR score | 0.877 (Deleterious) |
| MCAP score | 0.214 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.91 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.863 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.69 |
| Deleterious probability by iFish2 | 0.9145 (Deleterious) |
| Deleterious probability by DeFine | 0.9581 (Deleterious) |
| Entrez Gene ID | 83697 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC4A9 (GeneCards) |
| Number of variants in SLC4A9 in this database | 1 (view all the variants) |
| Full name | solute carrier family 4 member 9 |
| Band | 5q31.3 |
| Other IDs | Vega: OTTHUMG00000163352 OMIM: 610207 HGNC: HGNC:11035 Ensembl: ENSG00000113073 |
| Other names | AE4 |
| Summary | The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] |
| Individual ID | 28867142.36 (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; |