OSGEP O-sialoglycoprotein endopeptidase

Information
Symbol
OSGEP
Type
protein-coding
Description
O-sialoglycoprotein endopeptidase
Entrez Gene ID
55644
Genome
hg19
Position
chr14:20,914,560-20,922,971
Genome
hg38
Position
chr14:20,446,401-20,454,812
MIM
610107 OMIM
HGNC
HGNC:18028 HGNC
Ensembl
ENSG00000092094 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 24
Benign 0 46
Likely benign 0 74
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 122
Ranking
ClinVar
0
0
48
216
6
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 GAMOS3
SYNONYM GCPL1
SYNONYM KAE1
SYNONYM OSGEP1
SYNONYM PRSMG1
SYNONYM TCS3
MIM 610107 OMIM
HGNC HGNC:18028 HGNC
Ensembl ENSG00000092094 Ensembl
AllianceGenome HGNC:18028
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000206542.9 hg38 chr14 20,446,401 20,454,812 8,412
ENST00000206542.9 hg19 chr14 20,914,560 20,922,971 8,412
Genome browser