Variant Details for NAA15
Basic Information Top
| Gene Symbol: | NAA15 ( Ga19,NARG1,NATH,TBDN100 ) |
|---|---|
| Gene Full Name: | N(alpha)-acetyltransferase 15, NatA auxiliary subunit |
| Band: | 4q31.1 |
| Quick Links | Entrez ID:80155; OMIM: 608000; Uniprot ID:NAA15_HUMAN; ENSEMBL ID: ENSG00000164134; HGNC ID: 30782 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 2 | 9 | 0 | 0 | 0 | 0 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005759 | 4 | loss | C Yuen RK, 2017 | |||||
| AutCNV0005758 | 4 | loss | C Yuen RK, 2017 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 140262130 | C | G | Sanger sequencing | De Rubeis S, 2014 | ||||
| 4 | 140272765 | G | T | Sanger sequencing | deleterious | 0.9903 | De Rubeis S, 2014 | ||
| 4 | 140258086 | T | c.225_230delTGACTTinsT | p.Asp76GlufsTer20 | Stessman HA, 2017 | ||||
| 4 | 140264105 | A | c.529_531delACAinsA | p.Gln178ThrfsTer5 | Stessman HA, 2017 | ||||
| 4 | 140283033 | T | A | c.1695T>A | p.Tyr565Ter | Stessman HA, 2017 | |||
| 4 | 140299939 | A | T | c.2086A>T | p.Lys696Ter | Stessman HA, 2017 | |||
| 4 | 140264104 | AACACA | AACA | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 4 | 140264104 | AAC | A | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 4 | 140262083 | CT | C | c.264delT | p.Leu89fs | Sanger sequencing | Takata A, 2018 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||