COMP cartilage oligomeric matrix protein

Information
Symbol
COMP
Type
protein-coding
Description
cartilage oligomeric matrix protein
Entrez Gene ID
1311
Genome
hg19
Position
chr19:18,893,583-18,902,114
Genome
hg38
Position
chr19:18,782,773-18,791,305
MIM
600310 OMIM
HGNC
HGNC:2227 HGNC
Ensembl
ENSG00000105664 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 6 134
Likely pathogenic 2 182
Benign 0 116
Likely benign 0 314
Conflicting classifications of pathogenicity 0 60
not provided 0 16
Uncertain significance 0 526
Ranking
ClinVar
0
0
152
1,024
28
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 CTS2
SYNONYM EDM1
SYNONYM EPD1
SYNONYM MED
SYNONYM PSACH
SYNONYM THBS5
SYNONYM TSP-5
SYNONYM TSP5
MIM 600310 OMIM
HGNC HGNC:2227 HGNC
Ensembl ENSG00000105664 Ensembl
AllianceGenome HGNC:2227
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000222271.7 hg38 chr19 18,782,773 18,791,305 8,533
ENST00000542601.6 hg38 chr19 18,782,773 18,791,305 8,533
ENST00000425807.1 hg38 chr19 18,782,774 18,791,305 8,532
ENST00000222271.7 hg19 chr19 18,893,583 18,902,114 8,532
ENST00000542601.6 hg19 chr19 18,893,583 18,902,114 8,532
ENST00000425807.1 hg19 chr19 18,893,584 18,902,114 8,531
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