| Variant ID | 29217 |
|---|---|
| Entrez Gene ID | 153469 |
| Gene | JAKMIP2-AS1 (GeneCards) |
| Location | hg19 5:147021187-147021187
hg38 5:147641624-147641624 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000005.9:g.147021187 A>T (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 |
|---|---|
| EIGEN score | 0.7787 |
| CADD Raw score (version 1.3) | 0.528896 (Deleterious) |
| FATHMM raw prediction score | 0.77505 (Tolerated) |
| Deleterious probability by DeFine | 0.7403 (Deleterious) |
| Entrez Gene ID | 153469 (NCBI Gene) |
|---|---|
| Official Gene Symbol | JAKMIP2-AS1 (GeneCards) |
| Number of variants in JAKMIP2-AS1 in this database | 2 (view all the variants) |
| Full name | JAKMIP2 antisense RNA 1 |
| Band | 5q32 |
| Other IDs | HGNC: HGNC:27203 Ensembl: ENSG00000280780 |
| Other names | None |
| Summary | None |
| Individual ID | 28503910.93 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |