PIKFYVE phosphoinositide kinase, FYVE-type zinc finger containing

Information
Symbol
PIKFYVE
Type
protein-coding
Description
phosphoinositide kinase, FYVE-type zinc finger containing
Entrez Gene ID
200576
Genome
hg19
Position
chr2:209,130,979-209,223,470
Genome
hg38
Position
chr2:208,266,255-208,358,746
MIM
609414 OMIM
HGNC
HGNC:23785 HGNC
Ensembl
ENSG00000115020 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 18
Benign 42 184
Likely benign 0 78
Conflicting classifications of pathogenicity 0 10
not provided 1 0
Uncertain significance 0 310
Ranking
ClinVar
0
0
84
506
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
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 CFD
SYNONYM FAB1
SYNONYM HEL37
SYNONYM PIP5K
SYNONYM PIP5K3
SYNONYM ZFYVE29
MIM 609414 OMIM
HGNC HGNC:23785 HGNC
Ensembl ENSG00000115020 Ensembl
AllianceGenome HGNC:23785
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392202.7 hg38 chr2 208,266,267 208,305,549 39,283
ENST00000264380.9 hg38 chr2 208,266,255 208,358,746 92,492
ENST00000407449.5 hg38 chr2 208,266,278 208,305,128 38,851
ENST00000308862.10 hg38 chr2 208,266,278 208,305,128 38,851
ENST00000264380.9 hg19 chr2 209,130,979 209,223,470 92,492
ENST00000392202.7 hg19 chr2 209,130,991 209,170,273 39,283
ENST00000407449.5 hg19 chr2 209,131,002 209,169,852 38,851
ENST00000308862.10 hg19 chr2 209,131,002 209,169,852 38,851
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