PEX13 peroxisomal biogenesis factor 13

Information
Symbol
PEX13
Type
protein-coding
Description
peroxisomal biogenesis factor 13
Entrez Gene ID
5194
Genome
hg19
Position
chr2:61,244,855-61,279,125
Genome
hg38
Position
chr2:61,017,720-61,051,990
MIM
601789 OMIM
HGNC
HGNC:8855 HGNC
Ensembl
ENSG00000162928 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 54
Likely pathogenic 0 12
Benign 0 36
Likely benign 0 344
Conflicting classifications of pathogenicity 0 52
Uncertain significance 0 600
Ranking
ClinVar
0
0
124
898
10
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 NALD
SYNONYM PBD11A
SYNONYM PBD11B
SYNONYM ZWS
MIM 601789 OMIM
HGNC HGNC:8855 HGNC
Ensembl ENSG00000162928 Ensembl
AllianceGenome HGNC:8855
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000295030.6 hg38 chr2 61,017,720 61,051,990 34,271
ENST00000414712.2 hg38 chr2 61,017,730 61,019,080 1,351
ENST00000444100.2 hg38 chr2 61,017,225 61,019,067 1,843
ENST00000401576.1 hg38 chr2 61,017,562 61,019,081 1,520
ENST00000444100.2 hg19 chr2 61,244,360 61,246,202 1,843
ENST00000401576.1 hg19 chr2 61,244,697 61,246,216 1,520
ENST00000295030.6 hg19 chr2 61,244,855 61,279,125 34,271
ENST00000414712.2 hg19 chr2 61,244,865 61,246,215 1,351
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