| Variant ID | 29811 |
|---|---|
| Entrez Gene ID | 91584 |
| Gene | PLXNA4 (GeneCards) |
| Location | hg19 7:131825445-131825445
hg38 7:132140686-132140686 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000007.13:g.131825445 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3878119 |
| Variant occurences in COSMIC | 1(stomach) |
| EIGEN score | 0.8864 |
| CADD Raw score (version 1.3) | 5.644041 (Deleterious) |
| FATHMM raw prediction score | 0.98457 (Tolerated) |
| SIFT score | 0.083 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.84 (Deleterious) |
| PROVEAN score | -5.48 (Deleterious) |
| MetaSVM score | -0.783 (Tolerated) |
| MetaLR score | 0.175 (Tolerated) |
| MCAP score | 0.095 (Deleterious) |
| FitCons score | 0.563 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.11 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.998 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.534 |
| Deleterious probability by iFish2 | 0.9916 (Deleterious) |
| Deleterious probability by DeFine | 0.9654 (Deleterious) |
| Entrez Gene ID | 91584 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLXNA4 (GeneCards) |
| Number of variants in PLXNA4 in this database | 5 (view all the variants) |
| Full name | plexin A4 |
| Band | 7q32.3 |
| Other IDs | Vega: OTTHUMG00000155108 OMIM: 604280 HGNC: HGNC:9102 Ensembl: ENSG00000221866 |
| Other names | PLEXA4, PLXNA4A, PLXNA4B, FAYV2820, PRO34003 |
| Summary | None |
| Individual ID | 28867142.48 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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 |
|---|---|
| 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; |