| Variant ID | 29128 |
|---|---|
| Entrez Gene ID | 59269 |
| Gene | HIVEP3 (GeneCards) |
| Location | hg19 1:42046980-42046980
hg38 1:41581309-41581309 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000001.10:g.42046980 G>A (Genome Assembly: GRCh37) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2708 |
| CADD Raw score (version 1.3) | -0.204764 (Deleterious) |
| FATHMM raw prediction score | 0.96306 (Tolerated) |
| Deleterious probability by DeFine | 0.8621 (Deleterious) |
| Entrez Gene ID | 59269 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HIVEP3 (GeneCards) |
| Number of variants in HIVEP3 in this database | 3 (view all the variants) |
| Full name | human immunodeficiency virus type I enhancer binding protein 3 |
| Band | 1p34.2 |
| Other IDs | Vega: OTTHUMG00000006361 OMIM: 606649 HGNC: HGNC:13561 Ensembl: ENSG00000127124 |
| Other names | KRC, KBP1, SHN3, ZAS3, KBP-1, ZNF40C, Schnrri-3 |
| Summary | This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011] |
| Individual ID | 28503910.05 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |