EXOSC5 exosome component 5

Information
Symbol
EXOSC5
Type
protein-coding
Description
exosome component 5
Entrez Gene ID
56915
Genome
hg19
Position
chr19:41,892,279-41,903,264
Genome
hg38
Position
chr19:41,386,374-41,397,359
MIM
606492 OMIM
HGNC
HGNC:24662 HGNC
Ensembl
ENSG00000077348 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 4
Benign 0 2
Likely benign 0 6
Uncertain significance 0 46
Ranking
ClinVar
0
0
8
50
4
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 CABAC
SYNONYM RRP41B
SYNONYM RRP46
SYNONYM Rrp46p
SYNONYM hRrp46p
SYNONYM p12B
MIM 606492 OMIM
HGNC HGNC:24662 HGNC
Ensembl ENSG00000077348 Ensembl
AllianceGenome HGNC:24662
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000602129.2 hg38 chr19 41,386,376 41,397,356 10,981
ENST00000221233.9 hg38 chr19 41,386,374 41,397,359 10,986
ENST00000593771.2 hg38 chr19 41,386,371 41,397,350 10,980
ENST00000596905.1 hg38 chr19 41,386,415 41,397,342 10,928
ENST00000593771.2 hg19 chr19 41,892,276 41,903,255 10,980
ENST00000221233.9 hg19 chr19 41,892,279 41,903,264 10,986
ENST00000602129.2 hg19 chr19 41,892,281 41,903,261 10,981
ENST00000596905.1 hg19 chr19 41,892,320 41,903,247 10,928
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