Variant ID | 29527 |
---|---|
Entrez Gene ID | 200150 |
Gene | PLD5 (GeneCards) |
Location | hg19 1:242383342-242383342
hg38 1:242220040-242220040 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
Method | MiSeq |
Mutation(HGVS format) | NC_000001.10:g.242383342 T>C (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 | 249250621 |
MAF in gnomAD genome (version 2.0.1) | 0 |
---|---|
EIGEN score | -0.2242 |
CADD Raw score (version 1.3) | 1.246935 (Deleterious) |
FATHMM raw prediction score | 0.76599 (Tolerated) |
SIFT score | 0.697 (Tolerated) |
LRT score | 0 (Deleterious) |
MutationTaster score | 0.727 (Tolerated) |
MutatioinAssessor score | 0.79 (Tolerated) |
PROVEAN score | 0 (Tolerated) |
MetaSVM score | -1.042 (Tolerated) |
MetaLR score | 0.018 (Tolerated) |
MCAP score | 0.003 (Tolerated) |
FitCons score | 0.653 (Highly Significant p < 0.003 ) |
Genomic Evolutionary Rate Profiling (GERP) score | 5.52 |
PhyloP score based on multiple alignment of 100 vertebrates | 4.024 |
PhastCons score based on multiple alignment of 100 vertebrates | 1 |
SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.02 |
Deleterious probability by iFish2 | 0.025 (Neutral) |
Deleterious probability by DeFine | 0.9823 (Deleterious) |
Entrez Gene ID | 200150 (NCBI Gene) |
---|---|
Official Gene Symbol | PLD5 (GeneCards) |
Number of variants in PLD5 in this database | 9 (view all the variants) |
Full name | phospholipase D family member 5 |
Band | 1q43 |
Other IDs | Vega: OTTHUMG00000039867 HGNC: HGNC:26879 Ensembl: ENSG00000180287 |
Other names | PLDC |
Summary | None |
Individual ID | 28714951.203 (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; |