PNPLA4 patatin like phospholipase domain containing 4

Information
Symbol
PNPLA4
Type
protein-coding
Description
patatin like phospholipase domain containing 4
Entrez Gene ID
8228
Genome
hg19
Position
chrX:7,866,288-7,895,454
Genome
hg38
Position
chrX:7,898,247-7,927,413
MIM
300102 OMIM
HGNC
HGNC:24887 HGNC
Ensembl
ENSG00000006757 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 0
Benign 0 6
Likely benign 0 12
not provided 10 0
Uncertain significance 0 40
Ranking
ClinVar
0
0
2
50
4
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 DXS1283E
SYNONYM GS2
SYNONYM iPLA2eta
MIM 300102 OMIM
HGNC HGNC:24887 HGNC
Ensembl ENSG00000006757 Ensembl
AllianceGenome HGNC:24887
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000537427.5 hg38 chrX 7,898,763 7,927,739 28,977
ENST00000381042.9 hg38 chrX 7,898,247 7,927,413 29,167
ENST00000444736.5 hg38 chrX 7,898,763 7,927,739 28,977
ENST00000381042.9 hg19 chrX 7,866,288 7,895,454 29,167
ENST00000444736.5 hg19 chrX 7,866,804 7,895,780 28,977
ENST00000537427.5 hg19 chrX 7,866,804 7,895,780 28,977
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