COPZ1 COPI coat complex subunit zeta 1

Information
Symbol
COPZ1
Type
protein-coding
Description
COPI coat complex subunit zeta 1
Entrez Gene ID
22818
Genome
hg19
Position
chr12:54,718,913-54,744,886
Genome
hg38
Position
chr12:54,325,129-54,351,102
MIM
615472 OMIM
HGNC
HGNC:2243 HGNC
Ensembl
ENSG00000111481 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
16
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 :
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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 CGI-120
SYNONYM COPZ
SYNONYM HSPC181
SYNONYM zeta-COP
SYNONYM zeta1-COP
MIM 615472 OMIM
HGNC HGNC:2243 HGNC
Ensembl ENSG00000111481 Ensembl
AllianceGenome HGNC:2243
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000549043.5 hg38 chr12 54,325,129 54,351,102 25,974
ENST00000262061.7 hg38 chr12 54,325,131 54,351,846 26,716
ENST00000551779.5 hg38 chr12 54,325,151 54,350,621 25,471
ENST00000549116.5 hg38 chr12 54,325,144 54,350,879 25,736
ENST00000553231.5 hg38 chr12 54,325,139 54,350,354 25,216
ENST00000548753.1 hg38 chr12 54,325,584 54,350,686 25,103
ENST00000552362.5 hg38 chr12 54,325,139 54,350,590 25,452
ENST00000552218.5 hg38 chr12 54,325,131 54,350,690 25,560
ENST00000455864.6 hg38 chr12 54,325,139 54,350,913 25,775
ENST00000549043.5 hg19 chr12 54,718,913 54,744,886 25,974
ENST00000262061.7 hg19 chr12 54,718,915 54,745,630 26,716
ENST00000548753.1 hg19 chr12 54,719,368 54,744,470 25,103
ENST00000455864.6 hg19 chr12 54,718,923 54,744,697 25,775
ENST00000549116.5 hg19 chr12 54,718,928 54,744,663 25,736
ENST00000551779.5 hg19 chr12 54,718,935 54,744,405 25,471
ENST00000552218.5 hg19 chr12 54,718,915 54,744,474 25,560
ENST00000552362.5 hg19 chr12 54,718,923 54,744,374 25,452
ENST00000553231.5 hg19 chr12 54,718,923 54,744,138 25,216
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