Variant Details for RAB11FIP4
Basic Information Top
Gene Symbol: | RAB11FIP4 ( FLJ00131,KIAA1821,MGC11316,MGC126566,RAB11-FIP4 ) |
---|---|
Gene Full Name: | RAB11 family interacting protein 4 (class II) |
Band: | 17q11.2 |
Quick Links | Entrez ID:84440; OMIM: 611999; Uniprot ID:RFIP4_HUMAN; ENSEMBL ID: ENSG00000131242; HGNC ID: 30267 |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click 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 | 0 | 0 | 0 | 0 | 6 | 6 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
No related data! |
NGS de novo Mutations Top
iFish (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 |
---|---|---|---|---|---|---|---|
AutLD0000039 | 17q11.2 | 17 | HTTINT2 | 2.34 | - | - | Monaco, 2001 |
AutLD0000016 | 17q11.2 | 17 | D17S1800 | 2.83 | - | - | Yonan, 2003 |
AutLD0000008 | 17q11.2 | 17 | D17S1294 | 2.85 | - | - | McCauley, 2005 |
AutLD0000148 | 17q11.2 | 17 | D17S1800 | 5.82 | 4.88 | 0.000000159 | Sutcliffe, 2005 |
AutLD0000108 | 17q11.2 | 17 | D17S1294 | - | 2.39 | - | Ylisaukko-oja, 2006 |
AutLD0000118 | 17q11.2 | 17 | - | - | 2.1 | - | Spence, 2006 |