EXOSC3 exosome component 3

Information
Symbol
EXOSC3
Type
protein-coding
Description
exosome component 3
Entrez Gene ID
51010
Genome
hg19
Position
chr9:37,779,711-37,785,061
Genome
hg38
Position
chr9:37,779,714-37,785,064
MIM
606489 OMIM
HGNC
HGNC:17944 HGNC
Ensembl
ENSG00000107371 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 54
Likely pathogenic 0 32
Benign 0 30
Likely benign 0 212
Conflicting classifications of pathogenicity 0 22
Uncertain significance 0 164
Ranking
ClinVar
0
0
74
400
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 :
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 CGI-102
SYNONYM PCH1B
SYNONYM RRP40
SYNONYM Rrp40p
SYNONYM bA3J10.7
SYNONYM hRrp-40
SYNONYM p10
MIM 606489 OMIM
HGNC HGNC:17944 HGNC
Ensembl ENSG00000107371 Ensembl
AllianceGenome HGNC:17944
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000396521.3 hg38 chr9 37,780,607 37,785,064 4,458
ENST00000327304.10 hg38 chr9 37,779,714 37,785,064 5,351
ENST00000327304.10 hg19 chr9 37,779,711 37,785,061 5,351
ENST00000396521.3 hg19 chr9 37,780,604 37,785,061 4,458
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