Variant Details for SETD1A
Basic Information Top
| Gene Symbol: | SETD1A ( KIAA0339,KMT2F,Set1,Set1A ) |
|---|---|
| Gene Full Name: | SET domain containing 1A |
| Band: | 16p11.2 |
| Quick Links | Entrez ID:9739; OMIM: 611052; Uniprot ID:SET1A_HUMAN; ENSEMBL ID: ENSG00000099381; HGNC ID: 29010 |
| 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 | 7 | 2 | 0 | 0 | 0 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000260 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Finelli, 2004 |
| AutCNV0000186 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Marshall, 2008 |
| AutCNV0000152 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Marshall, 2008 |
| AutCNV0000018 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | loss | external link | Weiss, 2008 |
| AutCNV0000017 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | gain | external link | Weiss, 2008 |
| AutCNV0000370 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | external link | Zwaag, 2009 | |
| AutCNV0000369 | 16 | 16p11.2 | 27692499 | 34542499 | 6850000 | external link | Zwaag, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 30981006 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 16 | 30975596 | C | T | neutral | 0.1021 | Chen R, 2017 |
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! | |||||||