INPP5E inositol polyphosphate-5-phosphatase E

Information
Symbol
INPP5E
Type
protein-coding
Description
inositol polyphosphate-5-phosphatase E
Entrez Gene ID
56623
Genome
hg19
Position
chr9:139,323,071-139,334,297
Genome
hg38
Position
chr9:136,428,619-136,439,845
MIM
613037 OMIM
HGNC
HGNC:21474 HGNC
Ensembl
ENSG00000148384 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 74
Likely pathogenic 2 70
Benign 0 130
Likely benign 0 526
Conflicting classifications of pathogenicity 0 100
not provided 0 2
Uncertain significance 2 636
Ranking
ClinVar
0
0
318
1,054
12
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 CORS1
SYNONYM CPD4
SYNONYM JBTS1
SYNONYM MORMS
SYNONYM PPI5PIV
SYNONYM pharbin
MIM 613037 OMIM
HGNC HGNC:21474 HGNC
Ensembl ENSG00000148384 Ensembl
AllianceGenome HGNC:21474
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000676019.1 hg38 chr9 136,428,619 136,439,845 11,227
ENST00000371712.4 hg38 chr9 136,428,619 136,439,845 11,227
ENST00000676019.1 hg19 chr9 139,323,071 139,334,297 11,227
ENST00000371712.4 hg19 chr9 139,323,071 139,334,297 11,227
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