Variant Details for FAM110C
Basic Information Top
| Gene Symbol: | FAM110C ( - ) |
|---|---|
| Gene Full Name: | family with sequence similarity 110, member C |
| Band: | 2p25.3 |
| Quick Links | Entrez ID:642273; OMIM: 611395; Uniprot ID:F110C_HUMAN; ENSEMBL ID: ENSG00000184731; HGNC ID: 33340 |
| 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 | 4 | 0 | 0 | 0 | 0 | 2 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003097 | 2 | 2p25.3 | 18674 | 240630 | 221956 | gain | external link | Pinto, 2010 |
| AutCNV0002255 | 2 | 2p25.3 | 18856 | 193991 | 175135 | gain | external link | Pinto, 2010 |
| AutCNV0001463 | 2 | 2p25.3 | 18674 | 163994 | 145320 | gain | external link | Pinto, 2010 |
| AutCNV0003469 | 2 | 2p25.3 | 29443 | 1157068 | 1127625 | loss | external link | Gai, 2011 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000070 | 2p25.3 | 2 | D2S319 | 1.2 | - | - | Buxbaum, 2001 |
| AutLD0000151 | 2p25.3-p24.1 | 2 | rs792065 | 1.87 | - | - | Allen-Brady, 2010 |