AUP1 AUP1 lipid droplet regulating VLDL assembly factor

Information
Symbol
AUP1
Type
protein-coding
Description
AUP1 lipid droplet regulating VLDL assembly factor
Entrez Gene ID
550
Genome
hg19
Position
chr2:74,753,779-74,756,833
Genome
hg38
Position
chr2:74,526,652-74,529,706
MIM
602434 OMIM
HGNC
HGNC:891 HGNC
Ensembl
ENSG00000115307 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 12
Uncertain significance 0 64
Ranking
ClinVar
0
0
6
74
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 :
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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
MIM 602434 OMIM
HGNC HGNC:891 HGNC
Ensembl ENSG00000115307 Ensembl
AllianceGenome HGNC:891
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000377526.4 hg38 chr2 74,526,652 74,529,706 3,055
ENST00000377526.4 hg19 chr2 74,753,779 74,756,833 3,055
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