CASP8 caspase 8

Information
Symbol
CASP8
Type
protein-coding
Description
caspase 8
Entrez Gene ID
841
Genome
hg19
Position
chr2:202,122,759-202,152,434
Genome
hg38
Position
chr2:201,258,036-201,287,711
MIM
601763 OMIM
HGNC
HGNC:1509 HGNC
Ensembl
ENSG00000064012 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 24
Likely pathogenic 0 8
Benign 0 64
Likely benign 0 234
Conflicting classifications of pathogenicity 0 16
not provided 42 0
Uncertain significance 0 358
Ranking
ClinVar
0
0
60
612
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 ALPS2B
SYNONYM CAP4
SYNONYM Casp-8
SYNONYM FLICE
SYNONYM MACH
SYNONYM MCH5
MIM 601763 OMIM
HGNC HGNC:1509 HGNC
Ensembl ENSG00000064012 Ensembl
AllianceGenome HGNC:1509
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000696085.1 hg38 chr2 201,258,110 201,287,649 29,540
ENST00000696087.1 hg38 chr2 201,258,051 201,287,631 29,581
ENST00000392263.6 hg38 chr2 201,233,443 201,286,594 53,152
ENST00000447616.6 hg38 chr2 201,257,980 201,281,859 23,880
ENST00000323492.11 hg38 chr2 201,260,500 201,287,709 27,210
ENST00000450491.6 hg38 chr2 201,233,486 201,286,594 53,109
ENST00000392258.7 hg38 chr2 201,233,506 201,281,915 48,410
ENST00000673742.1 hg38 chr2 201,260,536 201,287,709 27,174
ENST00000440732.6 hg38 chr2 201,233,502 201,286,594 53,093
ENST00000358485.8 hg38 chr2 201,258,036 201,287,711 29,676
ENST00000413726.6 hg38 chr2 201,258,035 201,287,685 29,651
ENST00000264275.9 hg38 chr2 201,233,466 201,286,729 53,264
ENST00000444430.3 hg38 chr2 201,266,487 201,287,711 21,225
ENST00000696069.1 hg38 chr2 201,266,487 201,361,836 95,350
ENST00000696067.1 hg38 chr2 201,233,466 201,287,602 54,137
ENST00000432109.6 hg38 chr2 201,233,463 201,286,594 53,132
ENST00000392263.6 hg19 chr2 202,098,166 202,151,317 53,152
ENST00000264275.9 hg19 chr2 202,098,189 202,151,452 53,264
ENST00000323492.11 hg19 chr2 202,125,223 202,152,432 27,210
ENST00000358485.8 hg19 chr2 202,122,759 202,152,434 29,676
ENST00000392258.7 hg19 chr2 202,098,229 202,146,638 48,410
ENST00000413726.6 hg19 chr2 202,122,758 202,152,408 29,651
ENST00000432109.6 hg19 chr2 202,098,186 202,151,317 53,132
ENST00000440732.6 hg19 chr2 202,098,225 202,151,317 53,093
ENST00000444430.3 hg19 chr2 202,131,210 202,152,434 21,225
ENST00000447616.6 hg19 chr2 202,122,703 202,146,582 23,880
ENST00000450491.6 hg19 chr2 202,098,209 202,151,317 53,109
ENST00000673742.1 hg19 chr2 202,125,259 202,152,432 27,174
ENST00000696067.1 hg19 chr2 202,098,189 202,152,325 54,137
ENST00000696087.1 hg19 chr2 202,122,774 202,152,354 29,581
ENST00000696085.1 hg19 chr2 202,122,833 202,152,372 29,540
ENST00000696069.1 hg19 chr2 202,131,210 202,226,559 95,350
KeyValue
strand+
start202,098,165
VogelsteinTSG
Gene SymbolCASP8
Entrez GeneId841
Chr Band2q33-q34
end202,152,433
chrchr2
Namecaspase 8, apoptosis-related cysteine peptidase
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