Variant Details for MARCH8
Basic Information Top
| Gene Symbol: | MARCH8 ( MARCH-VIII,MIR,RNF178,c-MIR ) |
|---|---|
| Gene Full Name: | membrane-associated ring finger (C3HC4) 8 |
| Band: | 10q11.21 |
| Quick Links | Entrez ID:220972; OMIM: 613335; Uniprot ID:MARH8_HUMAN; ENSEMBL ID: ENSG00000165406; HGNC ID: |
| 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 | 0 | 0 | 0 | 0 | 2 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000415 | 10 | 10q11.21-11.22 | 46029208 | 48228375 | 2199167 | gain | external link | Gregory, 2009 |
| AutCNV0001106 | 10 | 10q11.21 | 45636867 | 46158519 | 521652 | gain | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000132 | 10p11.23-q11.21 | 10 | D10S1426/D10S1669 | - | - | 0.00421 | Lauritsen, 2006 |
| AutLD0000112 | 10p11.23-q11.23 | 10 | - | - | 1.89 | - | Spence, 2006 |