Variant Details for FAM120B
Basic Information Top
| Gene Symbol: | FAM120B ( CCPG,FLJ55614,KIAA0183,KIAA1838,PGCC1,dJ894D12.1 ) |
|---|---|
| Gene Full Name: | family with sequence similarity 120B |
| Band: | 6q27 |
| Quick Links | Entrez ID:84498; OMIM: 612266; Uniprot ID:F120B_HUMAN; ENSEMBL ID: ENSG00000112584; HGNC ID: 21109 |
| 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 | 2 | 0 | 1 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000413 | 6 | 6q27 | 170701214 | 171009919 | 308705 | loss | external link | Gregory, 2009 |
| AutCNV0000688 | 6 | 6q27 | 164480010 | 171055000 | 6574990 | gain | external link | Berkel, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 170627963 | A | C | Sanger sequencing | neutral | 0.0319 | De Rubeis S, 2014 | ||
| 6 | 170632250 | C | G | c.C1854G | p.T618T | Tammimies K, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 170627656 | C | G | c.1178C>G | p.Thr393Arg | neutral | 0.1804 | Bi C, 2012 |
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! | |||||||