Variant Details for MIB1
Basic Information Top
| Gene Symbol: | MIB1 ( DIP-1,DKFZp686I0769,DKFZp761M1710,FLJ90676,MGC129659,MGC129660,MIB,ZZANK2,ZZZ6 ) |
|---|---|
| Gene Full Name: | mindbomb homolog 1 (Drosophila) |
| Band: | 18q11.2 |
| Quick Links | Entrez ID:57534; OMIM: 608677; Uniprot ID:MIB1_HUMAN; ENSEMBL ID: ENSG00000101752; HGNC ID: 21086 |
| 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 | 1 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0005740 | 18 | gain | C Yuen RK, 2017 | |||||
| AutCNV0005739 | 18 | loss | C Yuen RK, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 18 | 19444568 | C | T | c.2962C>T | p.Arg988Cys | Not_tested | deleterious | 0.8913 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| chr18 | 19437142 | G | p.R906fs | Y | Yuen RK, 2015 |
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! | |||||||