| Variant ID | 29329 |
|---|---|
| Entrez Gene ID | 83552 |
| Gene | MFRP (GeneCards) |
| Location | hg19 11:119216209-119216209
hg38 11:119345499-119345499 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.119216209 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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9787 |
| CADD Raw score (version 1.3) | 1.047877 (Deleterious) |
| FATHMM raw prediction score | 0.02749 (Tolerated) |
| SIFT score | 0.676 (Tolerated) |
| LRT score | 0.831 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.62 (Tolerated) |
| PROVEAN score | -1.52 (Tolerated) |
| MetaSVM score | -0.966 (Tolerated) |
| MetaLR score | 0.028 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.57 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.335 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.376 |
| Deleterious probability by iFish2 | 0.0117 (Neutral) |
| Deleterious probability by DeFine | 0.6894 (Deleterious) |
| Entrez Gene ID | 83552 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MFRP (GeneCards) |
| Number of variants in MFRP in this database | 1 (view all the variants) |
| Full name | membrane frizzled-related protein |
| Band | 11q23.3 |
| Other IDs | Vega: OTTHUMG00000166199 OMIM: 606227 HGNC: HGNC:18121 Ensembl: ENSG00000235718 |
| Other names | RD6, NNO2, MCOP5 |
| Summary | This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013] |
| Individual ID | 28714951.05 (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; |