PEAR1 platelet endothelial aggregation receptor 1

Information
Symbol
PEAR1
Type
protein-coding
Description
platelet endothelial aggregation receptor 1
Entrez Gene ID
375033
Genome
hg19
Position
chr1:156,863,512-156,886,221
Genome
hg38
Position
chr1:156,893,720-156,916,429
MIM
610278 OMIM
HGNC
HGNC:33631 HGNC
Ensembl
ENSG00000187800 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 14
not provided 1 0
Uncertain significance 0 100
Ranking
ClinVar
0
0
0
122
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 :
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 JEDI
SYNONYM MEGF12
MIM 610278 OMIM
HGNC HGNC:33631 HGNC
Ensembl ENSG00000187800 Ensembl
AllianceGenome HGNC:33631
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000292357.8 hg38 chr1 156,893,718 156,916,429 22,712
ENST00000338302.7 hg38 chr1 156,893,720 156,916,429 22,710
ENST00000292357.8 hg19 chr1 156,863,510 156,886,221 22,712
ENST00000338302.7 hg19 chr1 156,863,512 156,886,221 22,710
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