ESM1 endothelial cell specific molecule 1

Information
Symbol
ESM1
Type
protein-coding
Description
endothelial cell specific molecule 1
Entrez Gene ID
11082
Genome
hg19
Position
chr5:54,273,695-54,281,421
Genome
hg38
Position
chr5:54,977,867-54,985,593
MIM
601521 OMIM
HGNC
HGNC:3466 HGNC
Ensembl
ENSG00000164283 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
10
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
[No Data.]
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 endocan
MIM 601521 OMIM
HGNC HGNC:3466 HGNC
Ensembl ENSG00000164283 Ensembl
AllianceGenome HGNC:3466
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000381405.5 hg38 chr5 54,977,867 54,985,593 7,727
ENST00000381403.4 hg38 chr5 54,978,487 54,985,593 7,107
ENST00000381405.5 hg19 chr5 54,273,695 54,281,421 7,727
ENST00000381403.4 hg19 chr5 54,274,315 54,281,421 7,107
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