SERPINE1 serpin family E member 1

Information
Symbol
SERPINE1
Type
protein-coding
Description
serpin family E member 1
Entrez Gene ID
5054
Genome
hg19
Position
chr7:100,770,385-100,782,528
Genome
hg38
Position
chr7:101,127,104-101,139,247
MIM
173360 OMIM
HGNC
HGNC:8583 HGNC
Ensembl
ENSG00000106366 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 14 52
Likely benign 0 28
Conflicting classifications of pathogenicity 0 6
not provided 0 4
Uncertain significance 0 128
Ranking
ClinVar
0
0
12
190
2
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 PAI
SYNONYM PAI-1
SYNONYM PAI1
SYNONYM PLANH1
MIM 173360 OMIM
HGNC HGNC:8583 HGNC
Ensembl ENSG00000106366 Ensembl
AllianceGenome HGNC:8583
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000223095.5 hg38 chr7 101,127,104 101,139,247 12,144
ENST00000223095.5 hg19 chr7 100,770,385 100,782,528 12,144
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