GET1 guided entry of tail-anchored proteins factor 1

Information
Symbol
GET1
Type
protein-coding
Description
guided entry of tail-anchored proteins factor 1
Entrez Gene ID
7485
Genome
hg19
Position
chr21:40,752,252-40,769,815
Genome
hg38
Position
chr21:39,380,326-39,397,889
MIM
602915 OMIM
HGNC
HGNC:12790 HGNC
Ensembl
ENSG00000182093 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
not provided 1 0
Uncertain significance 0 52
Ranking
ClinVar
0
0
0
58
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 CHD5
SYNONYM WRB
MIM 602915 OMIM
HGNC HGNC:12790 HGNC
Ensembl ENSG00000182093 Ensembl
AllianceGenome HGNC:12790
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000380708.5 hg38 chr21 39,387,765 39,397,889 10,125
ENST00000649170.1 hg38 chr21 39,380,326 39,397,889 17,564
ENST00000647678.1 hg38 chr21 39,379,539 39,397,887 18,349
ENST00000415847.3 hg38 chr21 39,377,698 39,406,615 28,918
ENST00000398753.5 hg38 chr21 39,380,458 39,397,116 16,659
ENST00000650376.1 hg38 chr21 39,379,571 39,397,743 18,173
ENST00000415847.3 hg19 chr21 40,749,624 40,778,541 28,918
ENST00000647678.1 hg19 chr21 40,751,465 40,769,813 18,349
ENST00000380708.5 hg19 chr21 40,759,691 40,769,815 10,125
ENST00000398753.5 hg19 chr21 40,752,384 40,769,042 16,659
ENST00000649170.1 hg19 chr21 40,752,252 40,769,815 17,564
ENST00000650376.1 hg19 chr21 40,751,497 40,769,669 18,173
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