NAXE NAD(P)HX epimerase

Information
Symbol
NAXE
Type
protein-coding
Description
NAD(P)HX epimerase
Entrez Gene ID
128240
Genome
hg19
Position
chr1:156,561,558-156,572,252
Genome
hg38
Position
chr1:156,591,766-156,602,460
MIM
608862 OMIM
HGNC
HGNC:18453 HGNC
Ensembl
ENSG00000163382 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 30
Likely pathogenic 0 6
Benign 0 46
Likely benign 0 76
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 166
Ranking
ClinVar
0
0
30
278
14
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 AIBP
SYNONYM APOA1BP
SYNONYM PEBEL
SYNONYM YJEFN1
MIM 608862 OMIM
HGNC HGNC:18453 HGNC
Ensembl ENSG00000163382 Ensembl
AllianceGenome HGNC:18453
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000680087.1 hg38 chr1 156,591,766 156,598,179 6,414
ENST00000680661.1 hg38 chr1 156,591,766 156,602,510 10,745
ENST00000681054.1 hg38 chr1 156,591,766 156,606,892 15,127
ENST00000680269.1 hg38 chr1 156,591,766 156,602,460 10,695
ENST00000368235.8 hg38 chr1 156,591,776 156,594,299 2,524
ENST00000368233.3 hg38 chr1 156,591,778 156,593,876 2,099
ENST00000368234.7 hg38 chr1 156,591,762 156,594,131 2,370
ENST00000680004.1 hg38 chr1 156,591,766 156,607,104 15,339
ENST00000679702.1 hg38 chr1 156,591,766 156,609,507 17,742
ENST00000681734.1 hg38 chr1 156,591,766 156,598,309 6,544
ENST00000679369.1 hg38 chr1 156,591,766 156,599,383 7,618
ENST00000368234.7 hg19 chr1 156,561,554 156,563,923 2,370
ENST00000368233.3 hg19 chr1 156,561,570 156,563,668 2,099
ENST00000368235.8 hg19 chr1 156,561,568 156,564,091 2,524
ENST00000679369.1 hg19 chr1 156,561,558 156,569,175 7,618
ENST00000679702.1 hg19 chr1 156,561,558 156,579,299 17,742
ENST00000680004.1 hg19 chr1 156,561,558 156,576,896 15,339
ENST00000680087.1 hg19 chr1 156,561,558 156,567,971 6,414
ENST00000680269.1 hg19 chr1 156,561,558 156,572,252 10,695
ENST00000680661.1 hg19 chr1 156,561,558 156,572,302 10,745
ENST00000681054.1 hg19 chr1 156,561,558 156,576,684 15,127
ENST00000681734.1 hg19 chr1 156,561,558 156,568,101 6,544
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