Variant Details for MACF1
Basic Information Top
| Gene Symbol: | MACF1 ( ABP620,ACF7,FLJ45612,FLJ46776,KIAA0465,KIAA1251,MACF,OFC4 ) |
|---|---|
| Gene Full Name: | microtubule-actin crosslinking factor 1 |
| Band: | 1p34.3 |
| Quick Links | Entrez ID:23499; OMIM: 608271; Uniprot ID:MACF1_HUMAN; ENSEMBL ID: ENSG00000127603; HGNC ID: 13664 |
| 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 | 0 | 2 | 2 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 | 39789893 | A | G | PCR or Sanger sequencing | neutral | 0.0853 | Iossifov I, 2014 | ||
| 1 | 39917969 | GT | G | c.20672delT | p.Val6891fs | Sanger sequencing | Takata A, 2018 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 1 | 39784265 | C | T | Mosaic | Krupp DR, 2017 | |
| 1 | 39903616 | G | A | Mosaic | Krupp DR, 2017 |
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! | |||||||