| Variant ID | 625 |
|---|---|
| Entrez Gene ID | 3097 |
| Gene | HIVEP2 (GeneCards) |
| Location | hg19 6:143092683-143092683
hg38 6:142771546-142771546 |
| Disease | Intellectual Disability (view all the variants in this disease) |
| Method | CG |
| Mutation(HGVS format) | NC_000006.11:g.143092683 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 5 |
| Position in protein | 1065 |
| Amino acid changes in protein | A > T |
| Position in cDNA | 3193 |
| Changes in cDNA | G > A |
| mRNA accession | NM_006734.3 |
| mRNA length | 9732 |
| Reference length | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.6371 |
| CADD Raw score (version 1.3) | -1.006371 (Deleterious) |
| FATHMM raw prediction score | 0.04861 (Tolerated) |
| SIFT score | 0.606 (Tolerated) |
| LRT score | 0.475 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | -0.42 (Tolerated) |
| PROVEAN score | -0.11 (Tolerated) |
| MetaSVM score | -1.019 (Tolerated) |
| MetaLR score | 0.008 (Tolerated) |
| MCAP score | 0.005 (Tolerated) |
| FitCons score | 0.615 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -10.5 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.508 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.076 |
| Deleterious probability by iFish2 | 0.0079 (Neutral) |
| Deleterious probability by DeFine | 0.7944 (Deleterious) |
| Entrez Gene ID | 3097 (NCBI Gene) |
|---|---|
| Official Gene Symbol | HIVEP2 (GeneCards) |
| Number of variants in HIVEP2 in this database | 2 (view all the variants) |
| Full name | human immunodeficiency virus type I enhancer binding protein 2 |
| Band | 6q24.2 |
| Other IDs | Vega: OTTHUMG00000015713 OMIM: 143054 HGNC: HGNC:4921 Ensembl: ENSG00000010818 |
| Other names | SHN2, ZAS2, MBP-2, MIBP1, MRD43, ZNF40B, HIV-EP2 |
| Summary | This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012] |
| Individual ID | 26054435.05 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 26054435 |
| Whose mosaic mutation | Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Intellectual Disability (view all the variants in this disease) |
| OMIM ID | 143054 |
| Pubmed ID | 26054435 |
|---|---|
| Title | Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation. |
| Journal | American Journal of Human Genetics |
| Publication date | 2015.07 |
| Disease | Intellectual Disability |