HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

Information
Symbol
HPS5
Type
protein-coding
Description
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Entrez Gene ID
11234
Genome
hg19
Position
chr11:18,300,223-18,343,687
Genome
hg38
Position
chr11:18,278,676-18,322,140
MIM
607521 OMIM
HGNC
HGNC:17022 HGNC
Ensembl
ENSG00000110756 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 146
Likely pathogenic 0 58
Benign 0 216
Likely benign 0 896
association 0 2
Conflicting classifications of pathogenicity 0 52
Uncertain significance 0 606
Ranking
ClinVar
0
0
226
1,630
28
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 AIBP63
SYNONYM BLOC2S2
MIM 607521 OMIM
HGNC HGNC:17022 HGNC
Ensembl ENSG00000110756 Ensembl
AllianceGenome HGNC:17022
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000531848.1 hg38 chr11 18,296,162 18,322,198 26,037
ENST00000537258.1 hg38 chr11 18,279,618 18,286,914 7,297
ENST00000349215.8 hg38 chr11 18,278,676 18,322,140 43,465
ENST00000438420.6 hg38 chr11 18,279,059 18,322,174 43,116
ENST00000396253.7 hg38 chr11 18,278,668 18,322,174 43,507
ENST00000396253.7 hg19 chr11 18,300,215 18,343,721 43,507
ENST00000349215.8 hg19 chr11 18,300,223 18,343,687 43,465
ENST00000438420.6 hg19 chr11 18,300,606 18,343,721 43,116
ENST00000537258.1 hg19 chr11 18,301,165 18,308,461 7,297
ENST00000531848.1 hg19 chr11 18,317,709 18,343,745 26,037
Genome browser