Variant ID | 29580 |
---|---|
Entrez Gene ID | 10016 |
Gene | PDCD6 (GeneCards) |
Location | hg19 5:306768-306768
hg38 5:306653-306653 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
Method | MiSeq |
Mutation(HGVS format) | NC_000005.9:g.306768 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 | 180915260 |
MAF in gnomAD genome (version 2.0.1) | 0 |
---|---|
SNP ID (dbSNP ID version 137) | rs145515975 |
EIGEN score | 0.2448 |
CADD Raw score (version 1.3) | 5.12653 (Deleterious) |
FATHMM raw prediction score | 0.98689 (Tolerated) |
SIFT score | 0.006 (Deleterious) |
MutationTaster score | 1 (Deleterious) |
MutatioinAssessor score | 0.585 (Tolerated) |
PROVEAN score | -2.5 (Deleterious) |
MetaSVM score | -0.886 (Tolerated) |
MetaLR score | 0.193 (Tolerated) |
MCAP score | 0.027 (Deleterious) |
FitCons score | 0.707 (Highly Significant p < 0.003 ) |
Genomic Evolutionary Rate Profiling (GERP) score | 5.53 |
PhyloP score based on multiple alignment of 100 vertebrates | 8.96 |
PhastCons score based on multiple alignment of 100 vertebrates | 1 |
SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.958 |
Deleterious probability by iFish2 | 0.6784 (Deleterious) |
Deleterious probability by DeFine | 0.9621 (Deleterious) |
Entrez Gene ID | 10016 (NCBI Gene) |
---|---|
Official Gene Symbol | PDCD6 (GeneCards) |
Number of variants in PDCD6 in this database | 1 (view all the variants) |
Full name | programmed cell death 6 |
Band | 5p15.33 |
Other IDs | Vega: OTTHUMG00000090283 OMIM: 601057 HGNC: HGNC:8765 Ensembl: ENSG00000249915 |
Other names | ALG2, ALG-2, PEF1B |
Summary | This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012] |
Individual ID | 28714951.256 (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; |