PI4KA phosphatidylinositol 4-kinase alpha

Information
Symbol
PI4KA
Type
protein-coding
Description
phosphatidylinositol 4-kinase alpha
Entrez Gene ID
5297
Genome
hg19
Position
chr22:21,061,979-21,213,099
Genome
hg38
Position
chr22:20,707,691-20,858,811
MIM
600286 OMIM
HGNC
HGNC:8983 HGNC
Ensembl
ENSG00000241973 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 36
Likely pathogenic 0 24
Benign 8 254
Likely benign 0 156
Conflicting classifications of pathogenicity 0 10
no classification for the single variant 0 4
not provided 14 0
Uncertain significance 0 212
Ranking
ClinVar
0
0
102
528
34
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 GIDID2
SYNONYM PI4K-ALPHA
SYNONYM PIK4CA
SYNONYM PMGYCHA
SYNONYM SPG84
SYNONYM pi4K230
MIM 600286 OMIM
HGNC HGNC:8983 HGNC
Ensembl ENSG00000241973 Ensembl
AllianceGenome HGNC:8983
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000255882.11 hg38 chr22 20,707,691 20,858,811 151,121
ENST00000255882.11 hg19 chr22 21,061,979 21,213,099 151,121
Genome browser