Variant Details for AHCTF1
Basic Information Top
| Gene Symbol: | AHCTF1 ( DKFZp434N093,ELYS,MST108,TMBS62 ) |
|---|---|
| Gene Full Name: | AT hook containing transcription factor 1 |
| Band: | 1q44 |
| Quick Links | Entrez ID:25909; OMIM: 610853; Uniprot ID:ELYS_HUMAN; ENSEMBL ID: ENSG00000153207; HGNC ID: 24618 |
| 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 | 1 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002356 | 1 | 1q44 | 245969638 | 247125355 | 1155717 | loss | external link | Pinto, 2010 |
| AutCNV0004198 | 1 | 1q44 | 246617914 | 248071120 | 1453206 | loss | external link | Sanders, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 247014152 | T | C | c.5261A>G | p.Gln1754Arg | Not_tested | neutral | 0.0326 | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000046 | 1q44 | 1 | D1S1609 | 2.41 | - | - | Risch, 1999 |