BCOR BCL6 corepressor
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 8 | 116 |
Likely pathogenic | 0 | 44 |
Benign | 1 | 208 |
Likely benign | 0 | 304 |
Conflicting classifications of pathogenicity | 0 | 68 |
not provided | 83 | 12 |
Uncertain significance | 3 | 516 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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190 |
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874 |
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52 |
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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Category | : |
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Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | ANOP2 |
SYNONYM | MAA2 |
SYNONYM | MCOPS2 |
MIM | 300485 OMIM |
HGNC | HGNC:20893 HGNC |
Ensembl | ENSG00000183337 Ensembl |
AllianceGenome | HGNC:20893 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000413905.6 | hg38 | chrX | 40,049,815 | 40,077,929 | 28,115 |
ENST00000378455.8 | hg38 | chrX | 40,051,246 | 40,177,329 | 126,084 |
ENST00000442018.6 | hg38 | chrX | 40,051,255 | 40,077,929 | 26,675 |
ENST00000672922.2 | hg38 | chrX | 40,051,254 | 40,177,213 | 125,960 |
ENST00000378444.9 | hg38 | chrX | 40,051,251 | 40,097,958 | 46,708 |
ENST00000615339.2 | hg38 | chrX | 40,051,251 | 40,099,167 | 47,917 |
ENST00000342274.8 | hg38 | chrX | 40,051,248 | 40,177,329 | 126,082 |
ENST00000679513.1 | hg38 | chrX | 40,051,251 | 40,096,192 | 44,942 |
ENST00000397354.7 | hg38 | chrX | 40,051,246 | 40,097,403 | 46,158 |
ENST00000406200.4 | hg38 | chrX | 40,052,109 | 40,097,979 | 45,871 |
ENST00000427012.3 | hg38 | chrX | 40,051,312 | 40,077,929 | 26,618 |
ENST00000673391.1 | hg38 | chrX | 40,051,272 | 40,096,612 | 45,341 |
ENST00000680831.1 | hg38 | chrX | 40,051,251 | 40,098,456 | 47,206 |
ENST00000413905.6 | hg19 | chrX | 39,909,068 | 39,937,182 | 28,115 |
ENST00000342274.8 | hg19 | chrX | 39,910,501 | 40,036,582 | 126,082 |
ENST00000378444.9 | hg19 | chrX | 39,910,504 | 39,957,211 | 46,708 |
ENST00000378455.8 | hg19 | chrX | 39,910,499 | 40,036,582 | 126,084 |
ENST00000397354.7 | hg19 | chrX | 39,910,499 | 39,956,656 | 46,158 |
ENST00000406200.4 | hg19 | chrX | 39,911,362 | 39,957,232 | 45,871 |
ENST00000679513.1 | hg19 | chrX | 39,910,504 | 39,955,445 | 44,942 |
ENST00000680831.1 | hg19 | chrX | 39,910,504 | 39,957,709 | 47,206 |
ENST00000615339.2 | hg19 | chrX | 39,910,504 | 39,958,420 | 47,917 |
ENST00000672922.2 | hg19 | chrX | 39,910,507 | 40,036,466 | 125,960 |
ENST00000442018.6 | hg19 | chrX | 39,910,508 | 39,937,182 | 26,675 |
ENST00000673391.1 | hg19 | chrX | 39,910,525 | 39,955,865 | 45,341 |
ENST00000427012.3 | hg19 | chrX | 39,910,565 | 39,937,182 | 26,618 |
Key | Value |
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strand | - |
start | 39,910,498 |
Vogelstein | TSG |
Gene Symbol | BCOR |
Entrez GeneId | 54,880 |
Chr Band | Xp11.4 |
end | 40,036,581 |
chr | chrX |
Name | BCL6 corepressor |
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