Variant Details for SPECC1L
Basic Information Top
| Gene Symbol: | SPECC1L ( CYTSA,KIAA0376 ) |
|---|---|
| Gene Full Name: | sperm antigen with calponin homology and coiled-coil domains 1-like |
| Band: | 22q11.23 |
| Quick Links | Entrez ID:23384; OMIM: NA; Uniprot ID:CYTSA_HUMAN; ENSEMBL ID: ENSG00000100014; HGNC ID: 29022 |
| 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 | 6 | 1 | 0 | 1 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000269 | 22 | 22q11 | loss | Roubertie, 2001 | ||||
| AutCNV0000270 | 22 | 22q11 | loss | Niklasson, 2002 | ||||
| AutCNV0000392 | 22 | 22q11.2 | 17920000 | 25970000 | 8050000 | gain | external link | Ramelli, 2008 |
| AutCNV0003009 | 22 | 22q11.23 | 24311474 | 24993367 | 681893 | gain | external link | Pinto, 2010 |
| AutCNV0004393 | 22 | 22q11.23 | 23648009 | 24996630 | 1348621 | gain | external link | Sanders, 2011 |
| AutCNV0004026 | 22 | 22q11.23 | 24401208 | 25028271 | 627063 | gain | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 22 | 24761563 | A | G | Sanger sequencing | neutral | 0.3961 | De Rubeis S, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 22 | 24717510 | C | T | Y | Cukier HN, 2014 |
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! | |||||||