FKBP1A FKBP prolyl isomerase 1A

Information
Symbol
FKBP1A
Type
protein-coding
Description
FKBP prolyl isomerase 1A
Entrez Gene ID
2280
Genome
hg19
Position
chr20:1,349,644-1,373,767
Genome
hg38
Position
chr20:1,369,000-1,393,123
MIM
186945 OMIM
HGNC
HGNC:3711 HGNC
Ensembl
ENSG00000088832 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 4
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
10
2
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 :
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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 :
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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 FKBP-12
SYNONYM FKBP-1A
SYNONYM FKBP1
SYNONYM FKBP12
SYNONYM PKC12
SYNONYM PKCI2
SYNONYM PPIASE
MIM 186945 OMIM
HGNC HGNC:3711 HGNC
Ensembl ENSG00000088832 Ensembl
AllianceGenome HGNC:3711
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000400137.9 hg38 chr20 1,368,978 1,393,054 24,077
ENST00000677533.1 hg38 chr20 1,373,708 1,393,164 19,457
ENST00000614856.2 hg38 chr20 1,375,284 1,393,074 17,791
ENST00000381719.8 hg38 chr20 1,369,000 1,393,123 24,124
ENST00000381715.4 hg38 chr20 1,369,573 1,393,054 23,482
ENST00000439640.5 hg38 chr20 1,368,978 1,393,108 24,131
ENST00000618612.5 hg38 chr20 1,368,978 1,393,105 24,128
ENST00000678408.1 hg38 chr20 1,369,417 1,393,103 23,687
ENST00000400137.9 hg19 chr20 1,349,622 1,373,698 24,077
ENST00000614856.2 hg19 chr20 1,355,928 1,373,718 17,791
ENST00000439640.5 hg19 chr20 1,349,622 1,373,752 24,131
ENST00000381719.8 hg19 chr20 1,349,644 1,373,767 24,124
ENST00000381715.4 hg19 chr20 1,350,217 1,373,698 23,482
ENST00000618612.5 hg19 chr20 1,349,622 1,373,749 24,128
ENST00000677533.1 hg19 chr20 1,354,352 1,373,808 19,457
ENST00000678408.1 hg19 chr20 1,350,061 1,373,747 23,687
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