THOP1 thimet oligopeptidase 1

Information
Symbol
THOP1
Type
protein-coding
Description
thimet oligopeptidase 1
Entrez Gene ID
7064
Genome
hg19
Position
chr19:2,785,501-2,815,805
Genome
hg38
Position
chr19:2,785,503-2,815,807
MIM
601117 OMIM
HGNC
HGNC:11793 HGNC
Ensembl
ENSG00000172009 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 104
Ranking
ClinVar
0
0
0
108
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 EP24.15
SYNONYM MEPD_HUMAN
SYNONYM MP78
SYNONYM TOP
MIM 601117 OMIM
HGNC HGNC:11793 HGNC
Ensembl ENSG00000172009 Ensembl
AllianceGenome HGNC:11793
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000395212.8 hg38 chr19 2,809,538 2,813,598 4,061
ENST00000586677.5 hg38 chr19 2,796,007 2,813,382 17,376
ENST00000307741.11 hg38 chr19 2,785,503 2,815,807 30,305
ENST00000307741.11 hg19 chr19 2,785,501 2,815,805 30,305
ENST00000586677.5 hg19 chr19 2,796,005 2,813,380 17,376
ENST00000395212.8 hg19 chr19 2,809,536 2,813,596 4,061
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