Variant ID | 29873 |
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Entrez Gene ID | 23250 |
Gene | ATP11A (GeneCards) |
Location | hg19 13:113516804-113516804
hg38 13:112862490-112862490 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
Method | NextSeq500 |
Mutation(HGVS format) | NC_000013.10:g.113516804 C>T (Genome Assembly: hg19) |
Exon or Intron | Exon |
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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 | 115169878 |
MAF in gnomAD genome (version 2.0.1) | 0.00003232 |
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EIGEN score | 0.0791 |
CADD Raw score (version 1.3) | 4.07433 (Deleterious) |
FATHMM raw prediction score | 0.93481 (Tolerated) |
SIFT score | 0.079 (Tolerated) |
LRT score | 0 (Deleterious) |
MutationTaster score | 1 (Deleterious) |
MutatioinAssessor score | 0.14 (Tolerated) |
PROVEAN score | -3.73 (Deleterious) |
MetaSVM score | -0.909 (Tolerated) |
MetaLR score | 0.142 (Tolerated) |
MCAP score | 0.036 (Deleterious) |
FitCons score | 0.707 (Highly Significant p < 0.003 ) |
Genomic Evolutionary Rate Profiling (GERP) score | 5.21 |
PhyloP score based on multiple alignment of 100 vertebrates | 7.163 |
PhastCons score based on multiple alignment of 100 vertebrates | 1 |
SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.774 |
Deleterious probability by iFish2 | 0.68 (Deleterious) |
Deleterious probability by DeFine | 0.9814 (Deleterious) |
Entrez Gene ID | 23250 (NCBI Gene) |
---|---|
Official Gene Symbol | ATP11A (GeneCards) |
Number of variants in ATP11A in this database | 1 (view all the variants) |
Full name | ATPase phospholipid transporting 11A |
Band | 13q34 |
Other IDs | Vega: OTTHUMG00000017371 OMIM: 605868 HGNC: HGNC:13552 Ensembl: ENSG00000068650 |
Other names | ATPIH, ATPIS |
Summary | The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
Individual ID | 28867142.16 (view all the variants in this individual) |
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Pubmed ID | 28867142 |
Whose mosaic mutation | Female 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 |
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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; |