| Variant ID | 29428 |
|---|---|
| Entrez Gene ID | 6404 |
| Gene | SELPLG (GeneCards) |
| Location | hg19 12:109017494-109017494
hg38 12:108623718-108623718 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.109017494 G>A (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.3477 |
| CADD Raw score (version 1.3) | 0.062687 (Deleterious) |
| FATHMM raw prediction score | 0.07934 (Tolerated) |
| SIFT score | 0.133 (Tolerated) |
| LRT score | 0.067 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.08 (Tolerated) |
| PROVEAN score | -2.08 (Tolerated) |
| MetaSVM score | -1.01 (Tolerated) |
| MetaLR score | 0.03 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -4.03 |
| PhyloP score based on multiple alignment of 100 vertebrates | -3.357 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.523 |
| Deleterious probability by iFish2 | 0.0036 (Neutral) |
| Deleterious probability by DeFine | 0.595 (Deleterious) |
| Entrez Gene ID | 6404 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SELPLG (GeneCards) |
| Number of variants in SELPLG in this database | 1 (view all the variants) |
| Full name | selectin P ligand |
| Band | 12q24.11 |
| Other IDs | Vega: OTTHUMG00000169411 OMIM: 600738 HGNC: HGNC:10722 Ensembl: ENSG00000110876 |
| Other names | CLA, CD162, PSGL1, PSGL-1 |
| Summary | This gene encodes a glycoprotein that functions as a high affinity counter-receptor for the cell adhesion molecules P-, E- and L- selectin expressed on myeloid cells and stimulated T lymphocytes. As such, this protein plays a critical role in leukocyte trafficking during inflammation by tethering of leukocytes to activated platelets or endothelia expressing selectins. This protein requires two post-translational modifications, tyrosine sulfation and the addition of the sialyl Lewis x tetrasaccharide (sLex) to its O-linked glycans, for its high-affinity binding activity. Aberrant expression of this gene and polymorphisms in this gene are associated with defects in the innate and adaptive immune response. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011] |
| Individual ID | 28714951.104 (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; |