| Variant ID | 29150 |
|---|---|
| Entrez Gene ID | 2036 |
| Gene | EPB41L1 (GeneCards) |
| Location | hg19 20:34773214-34773214
hg38 20:36185292-36185292 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000020.10:g.34773214 C>T (Genome Assembly: GRCh37) |
| 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3731278 |
| Variant occurences in COSMIC | 1(stomach) |
| EIGEN score | 0.631 |
| CADD Raw score (version 1.3) | 7.753197 (Deleterious) |
| FATHMM raw prediction score | 0.9269 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.05 (Deleterious) |
| PROVEAN score | -5.71 (Deleterious) |
| MetaSVM score | 0.258 (Deleterious) |
| MetaLR score | 0.588 (Deleterious) |
| MCAP score | 0.065 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.33 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.651 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.994 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.489 |
| Deleterious probability by iFish2 | 0.752 (Deleterious) |
| Deleterious probability by DeFine | 0.9612 (Deleterious) |
| Entrez Gene ID | 2036 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EPB41L1 (GeneCards) |
| Number of variants in EPB41L1 in this database | 2 (view all the variants) |
| Full name | erythrocyte membrane protein band 4.1 like 1 |
| Band | 20q11.23 |
| Other IDs | Vega: OTTHUMG00000032378 OMIM: 602879 HGNC: HGNC:3378 Ensembl: ENSG00000088367 |
| Other names | 4.1N, MRD11 |
| Summary | Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015] |
| Individual ID | 28503910.27 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |