| Variant ID | 29433 |
|---|---|
| Entrez Gene ID | 56129 |
| Gene | PCDHB7 (GeneCards) |
| Location | hg19 5:140554718-140554718
hg38 5:141175137-141175137 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000005.9:g.140554718 A>G (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003227 |
|---|---|
| EIGEN score | -1.2743 |
| CADD Raw score (version 1.3) | -1.154649 (Deleterious) |
| FATHMM raw prediction score | 0.09727 (Tolerated) |
| SIFT score | 0.432 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.74 (Tolerated) |
| PROVEAN score | -0.34 (Tolerated) |
| MetaSVM score | -0.935 (Tolerated) |
| MetaLR score | 0.014 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.581 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.761 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.004 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.596 |
| Deleterious probability by iFish2 | 0.1157 (Neutral) |
| Deleterious probability by DeFine | 0.801 (Deleterious) |
| Entrez Gene ID | 56129 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCDHB7 (GeneCards) |
| Number of variants in PCDHB7 in this database | 1 (view all the variants) |
| Full name | protocadherin beta 7 |
| Band | 5q31.3 |
| Other IDs | Vega: OTTHUMG00000129608 OMIM: 606333 HGNC: HGNC:8692 Ensembl: ENSG00000113212 |
| Other names | PCDH-BETA7 |
| Summary | This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.109 (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; |