SPSB3 splA/ryanodine receptor domain and SOCS box containing 3
Information
- Symbol
- SPSB3
- Type
- protein-coding
- Description
- splA/ryanodine receptor domain and SOCS box containing 3
- Entrez Gene ID
- 90864
- Genome
- hg19
- Position
- chr16:1,826,713-1,832,572
- Genome
- hg38
- Position
- chr16:1,776,712-1,782,571
- MIM
- 611659 OMIM
- HGNC
- HGNC:30629 HGNC
- Ensembl
- ENSG00000162032 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 60 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
68 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | C16orf31 |
| SYNONYM | SSB3 |
| MIM | 611659 OMIM |
| HGNC | HGNC:30629 HGNC |
| Ensembl | ENSG00000162032 Ensembl |
| AllianceGenome | HGNC:30629 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000566339.6 | hg38 | chr16 | 1,776,712 | 1,782,571 | 5,860 |
| ENST00000301717.8 | hg38 | chr16 | 1,776,749 | 1,781,516 | 4,768 |
| ENST00000566339.6 | hg19 | chr16 | 1,826,713 | 1,832,572 | 5,860 |
| ENST00000301717.8 | hg19 | chr16 | 1,826,750 | 1,831,517 | 4,768 |
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