Variant Details for SRRM2
Basic Information Top
| Gene Symbol: | SRRM2 ( 300-KD,CWF21,Cwc21,DKFZp667L0421,DKFZp686O15166,FLJ21926,FLJ22250,KIAA0324,MGC40295,SRL300,SRm300 ) |
|---|---|
| Gene Full Name: | serine/arginine repetitive matrix 2 |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:23524; OMIM: 606032; Uniprot ID:SRRM2_HUMAN; ENSEMBL ID: ENSG00000167978; HGNC ID: 16639 |
| 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 | 0 | 7 | 1 | 0 | 0 | 2 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 2815062 | C | Y | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 16 | 2806450 | C | T | Sanger sequencing | deleterious | 0.9275 | De Rubeis S, 2014 | ||
| 16 | 2813308 | CAAAG | C | Sanger sequencing | De Rubeis S, 2014 | ||||
| 16 | 2815676 | C | A | Sanger sequencing | neutral | 0.2281 | De Rubeis S, 2014 | ||
| 16 | 2817038 | C | G | Sanger sequencing | deleterious | 0.9167 | De Rubeis S, 2014 | ||
| 16 | 2813215 | C | T | Sanger sequencing | neutral | 0.1135 | Yuen RK, 2016 | ||
| 16 | 2814953 | G | A | c.4424G>A | p.Arg1475Lys | Not_tested | deleterious | 0.6385 | Takata A, 2018 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 16 | 2818164 | T | A | Mosaic | Krupp DR, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000091 | 16p13 | 16 | D16S2619 | - | 2.17 | - | Buxbaum, 2004 |
| AutLD0000138 | 16p13.3 | 16 | D16S748 | - | - | 0.00117 | Lauritsen, 2006 |