EDEM3 ER degradation enhancing alpha-mannosidase like protein 3

Information
Symbol
EDEM3
Type
protein-coding
Description
ER degradation enhancing alpha-mannosidase like protein 3
Entrez Gene ID
80267
Genome
hg19
Position
chr1:184,659,627-184,724,041
Genome
hg38
Position
chr1:184,690,493-184,754,907
MIM
610214 OMIM
HGNC
HGNC:16787 HGNC
Ensembl
ENSG00000116406 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 4
Benign 0 4
Likely benign 0 6
Uncertain significance 0 88
Ranking
ClinVar
0
0
0
104
18
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 C1orf22
SYNONYM CDG2V
MIM 610214 OMIM
HGNC HGNC:16787 HGNC
Ensembl ENSG00000116406 Ensembl
AllianceGenome HGNC:16787
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000686047.1 hg38 chr1 184,690,519 184,754,850 64,332
ENST00000685596.1 hg38 chr1 184,690,669 184,754,621 63,953
ENST00000687113.1 hg38 chr1 184,690,540 184,754,799 64,260
ENST00000318130.13 hg38 chr1 184,690,237 184,754,858 64,622
ENST00000367512.8 hg38 chr1 184,690,493 184,754,907 64,415
ENST00000692170.1 hg38 chr1 184,691,372 184,754,845 63,474
ENST00000686225.1 hg38 chr1 184,690,571 184,754,853 64,283
ENST00000318130.13 hg19 chr1 184,659,371 184,723,992 64,622
ENST00000367512.8 hg19 chr1 184,659,627 184,724,041 64,415
ENST00000685596.1 hg19 chr1 184,659,803 184,723,755 63,953
ENST00000686047.1 hg19 chr1 184,659,653 184,723,984 64,332
ENST00000686225.1 hg19 chr1 184,659,705 184,723,987 64,283
ENST00000687113.1 hg19 chr1 184,659,674 184,723,933 64,260
ENST00000692170.1 hg19 chr1 184,660,506 184,723,979 63,474
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