PEX16 peroxisomal biogenesis factor 16

Information
Symbol
PEX16
Type
protein-coding
Description
peroxisomal biogenesis factor 16
Entrez Gene ID
9409
Genome
hg19
Position
chr11:45,931,220-45,939,380
Genome
hg38
Position
chr11:45,909,669-45,917,829
MIM
603360 OMIM
HGNC
HGNC:8857 HGNC
Ensembl
ENSG00000121680 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 42
Likely pathogenic 2 24
Benign 0 58
Likely benign 0 586
Conflicting classifications of pathogenicity 0 66
Uncertain significance 0 402
Ranking
ClinVar
0
0
146
944
6
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 PBD8A
SYNONYM PBD8B
MIM 603360 OMIM
HGNC HGNC:8857 HGNC
Ensembl ENSG00000121680 Ensembl
AllianceGenome HGNC:8857
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000532681.5 hg38 chr11 45,910,205 45,918,812 8,608
ENST00000241041.7 hg38 chr11 45,909,669 45,917,829 8,161
ENST00000378750.10 hg38 chr11 45,909,663 45,917,877 8,215
ENST00000378750.10 hg19 chr11 45,931,214 45,939,428 8,215
ENST00000241041.7 hg19 chr11 45,931,220 45,939,380 8,161
ENST00000532681.5 hg19 chr11 45,931,756 45,940,363 8,608
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