EXOSC4 exosome component 4

Information
Symbol
EXOSC4
Type
protein-coding
Description
exosome component 4
Entrez Gene ID
54512
Genome
hg19
Position
chr8:145,133,575-145,135,551
Genome
hg38
Position
chr8:144,078,672-144,080,648
MIM
606491 OMIM
HGNC
HGNC:18189 HGNC
Ensembl
ENSG00000178896 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
26
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 :
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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 :
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 RRP41
SYNONYM RRP41A
SYNONYM Rrp41p
SYNONYM SKI6
SYNONYM Ski6p
SYNONYM hRrp41p
SYNONYM p12A
MIM 606491 OMIM
HGNC HGNC:18189 HGNC
Ensembl ENSG00000178896 Ensembl
AllianceGenome HGNC:18189
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000316052.6 hg38 chr8 144,078,672 144,080,648 1,977
ENST00000525936.1 hg38 chr8 144,078,648 144,080,516 1,869
ENST00000525936.1 hg19 chr8 145,133,551 145,135,419 1,869
ENST00000316052.6 hg19 chr8 145,133,575 145,135,551 1,977
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