SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

Information
Symbol
SMARCE1
Type
protein-coding
Description
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Entrez Gene ID
6605
Genome
hg19
Position
chr17:38,781,214-38,804,070
Genome
hg38
Position
chr17:40,624,962-40,647,818
MIM
603111 OMIM
HGNC
HGNC:11109 HGNC
Ensembl
ENSG00000073584 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 62
Likely pathogenic 0 40
Benign 0 50
Likely benign 1 696
Conflicting classifications of pathogenicity 0 126
not provided 1 2
risk factor 0 6
Uncertain significance 7 790
Ranking
ClinVar
0
0
498
1,116
12
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 BAF57
SYNONYM CSS5
MIM 603111 OMIM
HGNC HGNC:11109 HGNC
Ensembl ENSG00000073584 Ensembl
AllianceGenome HGNC:11109
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000580419.6 hg38 chr17 40,627,743 40,647,817 20,075
ENST00000647508.1 hg38 chr17 40,627,719 40,648,370 20,652
ENST00000447024.6 hg38 chr17 40,629,456 40,647,842 18,387
ENST00000642459.1 hg38 chr17 40,629,335 40,647,846 18,512
ENST00000431889.6 hg38 chr17 40,628,468 40,647,839 19,372
ENST00000647515.1 hg38 chr17 40,627,761 40,647,852 20,092
ENST00000646283.1 hg38 chr17 40,627,773 40,647,839 20,067
ENST00000264640.9 hg38 chr17 40,627,781 40,647,830 20,050
ENST00000646482.1 hg38 chr17 40,630,455 40,645,836 15,382
ENST00000643318.1 hg38 chr17 40,625,003 40,648,654 23,652
ENST00000578044.6 hg38 chr17 40,628,785 40,648,396 19,612
ENST00000644701.1 hg38 chr17 40,627,722 40,647,837 20,116
ENST00000377808.9 hg38 chr17 40,627,762 40,647,842 20,081
ENST00000645104.1 hg38 chr17 40,629,623 40,647,832 18,210
ENST00000643683.1 hg38 chr17 40,627,763 40,647,641 19,879
ENST00000474246.2 hg38 chr17 40,640,574 40,647,846 7,273
ENST00000348513.12 hg38 chr17 40,624,962 40,647,818 22,857
ENST00000644527.1 hg38 chr17 40,627,457 40,647,832 20,376
ENST00000643806.1 hg38 chr17 40,642,896 40,647,824 4,929
ENST00000400122.8 hg38 chr17 40,627,761 40,648,137 20,377
ENST00000348513.12 hg19 chr17 38,781,214 38,804,070 22,857
ENST00000643318.1 hg19 chr17 38,781,255 38,804,906 23,652
ENST00000264640.9 hg19 chr17 38,784,033 38,804,082 20,050
ENST00000377808.9 hg19 chr17 38,784,014 38,804,094 20,081
ENST00000400122.8 hg19 chr17 38,784,013 38,804,389 20,377
ENST00000431889.6 hg19 chr17 38,784,720 38,804,091 19,372
ENST00000447024.6 hg19 chr17 38,785,708 38,804,094 18,387
ENST00000578044.6 hg19 chr17 38,785,037 38,804,648 19,612
ENST00000642459.1 hg19 chr17 38,785,587 38,804,098 18,512
ENST00000646482.1 hg19 chr17 38,786,707 38,802,088 15,382
ENST00000643683.1 hg19 chr17 38,784,015 38,803,893 19,879
ENST00000474246.2 hg19 chr17 38,796,826 38,804,098 7,273
ENST00000580419.6 hg19 chr17 38,783,995 38,804,069 20,075
ENST00000643806.1 hg19 chr17 38,799,148 38,804,076 4,929
ENST00000644527.1 hg19 chr17 38,783,709 38,804,084 20,376
ENST00000647508.1 hg19 chr17 38,783,971 38,804,622 20,652
ENST00000644701.1 hg19 chr17 38,783,974 38,804,089 20,116
ENST00000647515.1 hg19 chr17 38,784,013 38,804,104 20,092
ENST00000645104.1 hg19 chr17 38,785,875 38,804,084 18,210
ENST00000646283.1 hg19 chr17 38,784,025 38,804,091 20,067
KeyValue
strand-
start38,783,975
Gene SymbolSMARCE1
Entrez GeneId6,605
Chr Band17q21.2
end38,804,102
chrchr17
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
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