BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
Information
- Symbol
- BUB1B
- Type
- protein-coding
- Description
- BUB1 mitotic checkpoint serine/threonine kinase B
- Entrez Gene ID
- 701
- Genome
- hg19
- Position
- chr15:40,453,270-40,513,324
- Genome
- hg38
- Position
- chr15:40,161,069-40,221,123
- MIM
- 602860 OMIM
- HGNC
- HGNC:1149 HGNC
- Ensembl
- ENSG00000156970 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 8 | 98 |
| Likely pathogenic | 2 | 30 |
| Benign | 0 | 134 |
| Likely benign | 0 | 1,144 |
| Conflicting classifications of pathogenicity | 0 | 64 |
| not provided | 0 | 12 |
| Pathogenic; Affects | 0 | 6 |
| Uncertain significance | 17 | 1,952 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
732 |
 |
2,598 |
 |
10 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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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| 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
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| Category | : |
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| 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 | BUB1beta |
| SYNONYM | BUBR1 |
| SYNONYM | Bub1A |
| SYNONYM | MAD3L |
| SYNONYM | MVA1 |
| SYNONYM | SSK1 |
| SYNONYM | hBUBR1 |
| MIM | 602860 OMIM |
| HGNC | HGNC:1149 HGNC |
| Ensembl | ENSG00000156970 Ensembl |
| AllianceGenome | HGNC:1149 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000287598.11 | hg38 | chr15 | 40,161,069 | 40,221,123 | 60,055 |
| ENST00000412359.7 | hg38 | chr15 | 40,161,067 | 40,221,038 | 59,972 |
| ENST00000412359.7 | hg19 | chr15 | 40,453,268 | 40,513,239 | 59,972 |
| ENST00000287598.11 | hg19 | chr15 | 40,453,270 | 40,513,324 | 60,055 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | TSG |
| start | 40,453,209 |
| Gene Symbol | BUB1B |
| Entrez GeneId | 701 |
| Chr Band | 15q15 |
| end | 40,513,336 |
| chr | chr15 |
| Name | BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) |
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