PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1

Information
Symbol
PIN1
Type
protein-coding
Description
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
Entrez Gene ID
5300
Genome
hg19
Position
chr19:9,945,994-9,960,365
Genome
hg38
Position
chr19:9,835,318-9,849,689
MIM
601052 OMIM
HGNC
HGNC:8988 HGNC
Ensembl
ENSG00000127445 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
14
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 :
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 DOD
SYNONYM UBL5
MIM 601052 OMIM
HGNC HGNC:8988 HGNC
Ensembl ENSG00000127445 Ensembl
AllianceGenome HGNC:8988
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000588695.5 hg38 chr19 9,835,341 9,849,682 14,342
ENST00000247970.9 hg38 chr19 9,835,318 9,849,689 14,372
ENST00000587625.5 hg38 chr19 9,835,323 9,848,614 13,292
ENST00000247970.9 hg19 chr19 9,945,994 9,960,365 14,372
ENST00000587625.5 hg19 chr19 9,945,999 9,959,290 13,292
ENST00000588695.5 hg19 chr19 9,946,017 9,960,358 14,342
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