APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1

Information
Symbol
APEX1
Type
protein-coding
Description
apurinic/apyrimidinic endodeoxyribonuclease 1
Entrez Gene ID
328
Genome
hg19
Position
chr14:20,923,385-20,925,926
Genome
hg38
Position
chr14:20,455,226-20,457,767
MIM
107748 OMIM
HGNC
HGNC:587 HGNC
Ensembl
ENSG00000100823 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 14
not provided 49 4
Uncertain significance 0 16
Ranking
ClinVar
0
0
10
30
0
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 APE
SYNONYM APE1
SYNONYM APEN
SYNONYM APEX
SYNONYM APX
SYNONYM HAP1
SYNONYM REF1
MIM 107748 OMIM
HGNC HGNC:587 HGNC
Ensembl ENSG00000100823 Ensembl
AllianceGenome HGNC:587
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000557054.1 hg38 chr14 20,455,247 20,457,767 2,521
ENST00000216714.8 hg38 chr14 20,455,226 20,457,767 2,542
ENST00000555414.5 hg38 chr14 20,455,191 20,457,772 2,582
ENST00000398030.8 hg38 chr14 20,455,226 20,457,767 2,542
ENST00000398030.8 hg19 chr14 20,923,385 20,925,926 2,542
ENST00000216714.8 hg19 chr14 20,923,385 20,925,926 2,542
ENST00000555414.5 hg19 chr14 20,923,350 20,925,931 2,582
ENST00000557054.1 hg19 chr14 20,923,406 20,925,926 2,521
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