| Variant ID | 29654 |
|---|---|
| Entrez Gene ID | 3208 |
| Gene | HPCA (GeneCards) |
| Location | hg19 1:33354602-33354602
hg38 1:32889001-32889001 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.33354602 C>T (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 | 0.2353 |
| CADD Raw score (version 1.3) | 2.402479 (Deleterious) |
| FATHMM raw prediction score | 0.85456 (Tolerated) |
| SIFT score | 0.039 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.615 (Deleterious) |
| PROVEAN score | -3.29 (Deleterious) |
| MetaSVM score | -1.001 (Tolerated) |
| MetaLR score | 0.087 (Tolerated) |
| MCAP score | 0.077 (Deleterious) |
| FitCons score | 0.516 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.22 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.268 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.341 |
| Deleterious probability by iFish2 | 0.5067 (Deleterious) |
| Deleterious probability by DeFine | 0.9434 (Deleterious) |
| Entrez Gene ID | 3208 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HPCA (GeneCards) |
| Number of variants in HPCA in this database | 1 (view all the variants) |
| Full name | hippocalcin |
| Band | 1p35.1 |
| Other IDs | Vega: OTTHUMG00000004017 OMIM: 142622 HGNC: HGNC:5144 Ensembl: ENSG00000121905 |
| Other names | BDR2, DYT2 |
| Summary | The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.330 (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; |