SKIC2 SKI2 subunit of superkiller complex

Information
Symbol
SKIC2
Type
protein-coding
Description
SKI2 subunit of superkiller complex
Entrez Gene ID
6499
Genome
hg19
Position
chr6:31,926,952-31,937,528
Genome
hg38
Position
chr6:31,959,175-31,969,751
MIM
600478 OMIM
HGNC
HGNC:10898 HGNC
Ensembl
ENSG00000204351 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 154
Likely pathogenic 0 84
Benign 0 86
Likely benign 0 1,004
Conflicting classifications of pathogenicity 0 48
not provided 3 2
Uncertain significance 0 640
Ranking
ClinVar
0
0
184
1,746
8
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 170A
SYNONYM DDX13
SYNONYM HLP
SYNONYM SKI2
SYNONYM SKI2W
SYNONYM SKIV2
SYNONYM SKIV2L
SYNONYM SKIV2L1
SYNONYM THES2
MIM 600478 OMIM
HGNC HGNC:10898 HGNC
Ensembl ENSG00000204351 Ensembl
AllianceGenome HGNC:10898
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000491994.2 hg38 chr6 31,959,139 31,969,722 10,584
ENST00000375394.7 hg38 chr6 31,959,175 31,969,751 10,577
ENST00000697831.1 hg38 chr6 31,959,116 31,969,780 10,665
ENST00000697838.1 hg38 chr6 31,959,157 31,969,779 10,623
ENST00000697840.1 hg38 chr6 31,959,171 31,969,738 10,568
ENST00000375394.7 hg19 chr6 31,926,952 31,937,528 10,577
ENST00000491994.2 hg19 chr6 31,926,916 31,937,499 10,584
ENST00000697831.1 hg19 chr6 31,926,893 31,937,557 10,665
ENST00000697840.1 hg19 chr6 31,926,948 31,937,515 10,568
ENST00000697838.1 hg19 chr6 31,926,934 31,937,556 10,623
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