SBF1 SET binding factor 1

Information
Symbol
SBF1
Type
protein-coding
Description
SET binding factor 1
Entrez Gene ID
6305
Genome
hg19
Position
chr22:50,885,241-50,913,454
Genome
hg38
Position
chr22:50,446,812-50,475,025
MIM
603560 OMIM
HGNC
HGNC:10542 HGNC
Ensembl
ENSG00000100241 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 28
Likely pathogenic 0 26
Benign 0 262
Likely benign 0 1,760
Conflicting classifications of pathogenicity 0 74
not provided 1 2
Uncertain significance 0 1,384
Ranking
ClinVar
0
0
546
2,822
16
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
Category :
Search word :
Filtering :
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
Category :
Search word :
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 :
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
TypeID
SYNONYM CMT4B3
SYNONYM DENND7A
SYNONYM MTMR5
MIM 603560 OMIM
HGNC HGNC:10542 HGNC
Ensembl ENSG00000100241 Ensembl
AllianceGenome HGNC:10542
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000693052.1 hg38 chr22 50,446,806 50,475,006 28,201
ENST00000693440.1 hg38 chr22 50,446,806 50,475,012 28,207
ENST00000348911.11 hg38 chr22 50,446,806 50,475,025 28,220
ENST00000691233.1 hg38 chr22 50,446,806 50,475,033 28,228
ENST00000688066.1 hg38 chr22 50,446,884 50,475,010 28,127
ENST00000380817.8 hg38 chr22 50,445,000 50,475,035 30,036
ENST00000690990.1 hg38 chr22 50,446,806 50,475,019 28,214
ENST00000685809.1 hg38 chr22 50,446,806 50,475,041 28,236
ENST00000691792.1 hg38 chr22 50,446,820 50,475,030 28,211
ENST00000689129.1 hg38 chr22 50,444,311 50,475,071 30,761
ENST00000687016.1 hg38 chr22 50,446,807 50,475,016 28,210
ENST00000689981.1 hg38 chr22 50,446,806 50,475,035 28,230
ENST00000684986.1 hg38 chr22 50,446,812 50,475,025 28,214
ENST00000348911.11 hg19 chr22 50,885,235 50,913,454 28,220
ENST00000380817.8 hg19 chr22 50,883,429 50,913,464 30,036
ENST00000684986.1 hg19 chr22 50,885,241 50,913,454 28,214
ENST00000685809.1 hg19 chr22 50,885,235 50,913,470 28,236
ENST00000687016.1 hg19 chr22 50,885,236 50,913,445 28,210
ENST00000689129.1 hg19 chr22 50,882,740 50,913,500 30,761
ENST00000690990.1 hg19 chr22 50,885,235 50,913,448 28,214
ENST00000693052.1 hg19 chr22 50,885,235 50,913,435 28,201
ENST00000693440.1 hg19 chr22 50,885,235 50,913,441 28,207
ENST00000691233.1 hg19 chr22 50,885,235 50,913,462 28,228
ENST00000689981.1 hg19 chr22 50,885,235 50,913,464 28,230
ENST00000691792.1 hg19 chr22 50,885,249 50,913,459 28,211
ENST00000688066.1 hg19 chr22 50,885,313 50,913,439 28,127
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