Variant Details for METAP1
Basic Information Top
| Gene Symbol: | METAP1 ( DKFZp781C0419,KIAA0094,MAP1A,MetAP1A ) |
|---|---|
| Gene Full Name: | methionyl aminopeptidase 1 |
| Band: | 4q23 |
| Quick Links | Entrez ID:23173; OMIM: 610151; Uniprot ID:AMPM1_HUMAN; ENSEMBL ID: ENSG00000164024; HGNC ID: 15789 |
| 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 | 1 | 0 | 0 | 0 | 0 | 2 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000130 | 4 | 4q21-23 | 86426849 | 103726763 | 17299914 | loss | external link | Jacquemont, 2006 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000105 | 4q23-24 | 4 | D4S1591 | - | 2.53 | - | Ylisaukko-oja, 2006 |
| AutLD0000110 | 4q23 | 4 | - | - | 2.42 | - | Spence, 2006 |