Variant Details for RIMS1
Basic Information Top
| Gene Symbol: | RIMS1 ( CORD7,KIAA0340,MGC167823,MGC176677,RAB3IP2,RIM,RIM1 ) |
|---|---|
| Gene Full Name: | regulating synaptic membrane exocytosis 1 |
| Band: | 6q13 |
| Quick Links | Entrez ID:22999; OMIM: 606629; Uniprot ID:RIMS1_HUMAN; ENSEMBL ID: ENSG00000079841; HGNC ID: 17282 |
| 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 | 2 | 0 | 16 | 0 | 0 | 18 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 73102488 | C | CA | PCR amplification and Sanger s | Dong S, 2014 | ||||
| 6 | 72975162 | C | A/C | c.3264C>A | p.Cys1088* | Sanger sequencing | Wang T, 2016 |
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 | 72596755 | C | C/G | Y | Wang T, 2016 | ||||
| 6 | 72889552 | A | A/G | Y | Wang T, 2016 | ||||
| 6 | 72926929 | C | C/T | Y | Wang T, 2016 | ||||
| 6 | 72945375 | A | A/T | Y | Wang T, 2016 | ||||
| 6 | 72967953 | C | C/T | Y | Wang T, 2016 | ||||
| 6 | 72967964 | A | A/T | Y | Wang T, 2016 | ||||
| 6 | 72975161 | G | A/G | Y | Wang T, 2016 | ||||
| 6 | 73043394 | C | A/C | Y | Wang T, 2016 | ||||
| 6 | 72596754 | C | C/T | Y | Wang T, 2016 | ||||
| 6 | 72960957 | C | C/T | Y | Wang T, 2016 | ||||
| 6 | 72892536 | T | A/T | Y | Wang T, 2016 | ||||
| 6 | 73023281 | G | G/T | Y | Wang T, 2016 | ||||
| 6 | 72892838 | G | A/G | Y | Wang T, 2016 | ||||
| 6 | 72960069 | A | A/G | Y | Wang T, 2016 | ||||
| 6 | 72984117 | C | C/G | Y | Wang T, 2016 | ||||
| 6 | 73100399 | C | A/C | Y | Wang T, 2016 |
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! | |||||||