PDX1 pancreatic and duodenal homeobox 1

Information
Symbol
PDX1
Type
protein-coding
Description
pancreatic and duodenal homeobox 1
Entrez Gene ID
3651
Genome
hg19
Position
chr13:28,494,137-28,500,450
Genome
hg38
Position
chr13:27,920,000-27,926,313
MIM
600733 OMIM
HGNC
HGNC:6107 HGNC
Ensembl
ENSG00000139515 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 20
Benign 0 24
Likely benign 0 82
Conflicting classifications of pathogenicity 0 28
Pathogenic; risk factor 0 2
risk factor 0 4
Uncertain risk allele 0 8
Uncertain significance 0 144
Ranking
ClinVar
0
0
70
200
8
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 GSF
SYNONYM IDX-1
SYNONYM IPF1
SYNONYM IUF1
SYNONYM MODY4
SYNONYM PAGEN1
SYNONYM PDX-1
SYNONYM STF-1
MIM 600733 OMIM
HGNC HGNC:6107 HGNC
Ensembl ENSG00000139515 Ensembl
AllianceGenome HGNC:6107
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000381033.5 hg38 chr13 27,920,000 27,926,313 6,314
ENST00000381033.5 hg19 chr13 28,494,137 28,500,450 6,314
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