PEX6 peroxisomal biogenesis factor 6

Information
Symbol
PEX6
Type
protein-coding
Description
peroxisomal biogenesis factor 6
Entrez Gene ID
5190
Genome
hg19
Position
chr6:42,931,603-42,946,919
Genome
hg38
Position
chr6:42,963,865-42,979,181
MIM
601498 OMIM
HGNC
HGNC:8859 HGNC
Ensembl
ENSG00000124587 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 260
Likely pathogenic 0 270
Benign 0 98
Likely benign 0 1,632
Conflicting classifications of pathogenicity 0 154
not provided 0 2
Uncertain significance 0 1,054
Ranking
ClinVar
0
0
468
2,714
24
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 HMLR2
SYNONYM PAF-2
SYNONYM PAF2
SYNONYM PBD4A
SYNONYM PDB4B
SYNONYM PXAAA1
MIM 601498 OMIM
HGNC HGNC:8859 HGNC
Ensembl ENSG00000124587 Ensembl
AllianceGenome HGNC:8859
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000304611.13 hg38 chr6 42,963,865 42,979,181 15,317
ENST00000244546.4 hg38 chr6 42,964,335 42,979,150 14,816
ENST00000304611.13 hg19 chr6 42,931,603 42,946,919 15,317
ENST00000244546.4 hg19 chr6 42,932,073 42,946,888 14,816
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