BACE1 beta-secretase 1

Information
Symbol
BACE1
Type
protein-coding
Description
beta-secretase 1
Entrez Gene ID
23621
Genome
hg19
Position
chr11:117,156,414-117,186,972
Genome
hg38
Position
chr11:117,285,698-117,316,256
MIM
604252 OMIM
HGNC
HGNC:933 HGNC
Ensembl
ENSG00000186318 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 27 0
Likely benign 0 2
Uncertain significance 0 54
Ranking
ClinVar
0
0
0
56
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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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
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 ASP2
SYNONYM BACE
SYNONYM HSPC104
MIM 604252 OMIM
HGNC HGNC:933 HGNC
Ensembl ENSG00000186318 Ensembl
AllianceGenome HGNC:933
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392937.10 hg38 chr11 117,285,706 117,295,636 9,931
ENST00000513780.5 hg38 chr11 117,289,535 117,315,798 26,264
ENST00000680681.1 hg38 chr11 117,287,412 117,295,614 8,203
ENST00000313005.11 hg38 chr11 117,285,698 117,316,256 30,559
ENST00000510630.5 hg38 chr11 117,289,487 117,295,573 6,087
ENST00000428381.6 hg38 chr11 117,289,535 117,315,798 26,264
ENST00000445823.6 hg38 chr11 117,289,535 117,315,798 26,264
ENST00000510915.6 hg38 chr11 117,289,271 117,295,614 6,344
ENST00000680971.1 hg38 chr11 117,285,232 117,295,485 10,254
ENST00000528053.5 hg38 chr11 117,287,351 117,316,259 28,909
ENST00000313005.11 hg19 chr11 117,156,414 117,186,972 30,559
ENST00000392937.10 hg19 chr11 117,156,422 117,166,352 9,931
ENST00000513780.5 hg19 chr11 117,160,251 117,186,514 26,264
ENST00000445823.6 hg19 chr11 117,160,251 117,186,514 26,264
ENST00000428381.6 hg19 chr11 117,160,251 117,186,514 26,264
ENST00000510630.5 hg19 chr11 117,160,203 117,166,289 6,087
ENST00000510915.6 hg19 chr11 117,159,987 117,166,330 6,344
ENST00000528053.5 hg19 chr11 117,158,067 117,186,975 28,909
ENST00000680681.1 hg19 chr11 117,158,128 117,166,330 8,203
ENST00000680971.1 hg19 chr11 117,155,948 117,166,201 10,254
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