PPFIBP2 PPFIA binding protein 2

Information
Symbol
PPFIBP2
Type
protein-coding
Description
PPFIA binding protein 2
Entrez Gene ID
8495
Genome
hg19
Position
chr11:7,535,230-7,674,987
Genome
hg38
Position
chr11:7,513,999-7,653,756
MIM
603142 OMIM
HGNC
HGNC:9250 HGNC
Ensembl
ENSG00000166387 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 12
Uncertain significance 0 138
Ranking
ClinVar
0
0
0
154
0
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 :
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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 Cclp1
MIM 603142 OMIM
HGNC HGNC:9250 HGNC
Ensembl ENSG00000166387 Ensembl
AllianceGenome HGNC:9250
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000528883.5 hg38 chr11 7,597,186 7,653,351 56,166
ENST00000684215.1 hg38 chr11 7,576,999 7,653,756 76,758
ENST00000299492.9 hg38 chr11 7,513,999 7,653,756 139,758
ENST00000533792.5 hg38 chr11 7,576,408 7,653,760 77,353
ENST00000530181.5 hg38 chr11 7,605,738 7,653,760 48,023
ENST00000650027.1 hg38 chr11 7,577,024 7,625,829 48,806
ENST00000684123.1 hg38 chr11 7,513,948 7,657,078 143,131
ENST00000528883.5 hg19 chr11 7,618,417 7,674,582 56,166
ENST00000530181.5 hg19 chr11 7,626,969 7,674,991 48,023
ENST00000684123.1 hg19 chr11 7,535,179 7,678,309 143,131
ENST00000299492.9 hg19 chr11 7,535,230 7,674,987 139,758
ENST00000650027.1 hg19 chr11 7,598,255 7,647,060 48,806
ENST00000684215.1 hg19 chr11 7,598,230 7,674,987 76,758
ENST00000533792.5 hg19 chr11 7,597,639 7,674,991 77,353
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