VPS11 VPS11 core subunit of CORVET and HOPS complexes

Information
Symbol
VPS11
Type
protein-coding
Description
VPS11 core subunit of CORVET and HOPS complexes
Entrez Gene ID
55823
Genome
hg19
Position
chr11:118,938,529-118,952,682
Genome
hg38
Position
chr11:119,067,818-119,081,972
MIM
608549 OMIM
HGNC
HGNC:14583 HGNC
Ensembl
ENSG00000160695 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 2
Benign 0 74
Likely benign 0 726
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 192
Ranking
ClinVar
0
0
40
948
4
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 END1
SYNONYM HLD12
SYNONYM HLD12; DYT32
SYNONYM PEP5
SYNONYM RNF108
SYNONYM hVPS11
MIM 608549 OMIM
HGNC HGNC:14583 HGNC
Ensembl ENSG00000160695 Ensembl
AllianceGenome HGNC:14583
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000621676.5 hg38 chr11 119,067,818 119,081,972 14,155
ENST00000614944.4 hg38 chr11 119,067,821 119,081,967 14,147
ENST00000621676.5 hg19 chr11 118,938,529 118,952,682 14,154
ENST00000614944.4 hg19 chr11 118,938,532 118,952,677 14,146
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