| Variant ID | 29591 |
|---|---|
| Entrez Gene ID | 5623 |
| Gene | PSPN (GeneCards) |
| Location | hg19 19:6375788-6375788
hg38 19:6375777-6375777 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.6375788 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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9447 |
| CADD Raw score (version 1.3) | 0.943801 (Deleterious) |
| FATHMM raw prediction score | 0.116 (Tolerated) |
| SIFT score | 0.122 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.78 (Tolerated) |
| PROVEAN score | -0.48 (Tolerated) |
| MetaSVM score | -0.733 (Tolerated) |
| MetaLR score | 0.357 (Tolerated) |
| MCAP score | 0.055 (Deleterious) |
| FitCons score | 0.66 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.392 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.01 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.218 |
| Deleterious probability by iFish2 | 0.1967 (Neutral) |
| Deleterious probability by DeFine | 0.7225 (Deleterious) |
| Entrez Gene ID | 5623 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PSPN (GeneCards) |
| Number of variants in PSPN in this database | 1 (view all the variants) |
| Full name | persephin |
| Band | 19p13.3 |
| Other IDs | Vega: OTTHUMG00000168086 OMIM: 602921 HGNC: HGNC:9579 Ensembl: ENSG00000125650 |
| Other names | PSP |
| Summary | This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. This protein may play a role in cell death, and nervous system development and function. Elevated expression of this gene has been observed in oral squamous cell carcinoma. [provided by RefSeq, Aug 2016] |
| Individual ID | 28714951.267 (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; |