Hs02139532_cn

• Gene Symbol: CASP4
• Assay Reference Genome Location: Chr.11:104951108 on build GRCh38
• Cytoband: 11q22.3

Target Gene Details

• Entrez Gene ID: 837
• Gene Name: caspase 4
• Gene Aliases: ICE(rel)II, ICEREL-II, ICH-2, Mih1, Mih1/TX, TX
• Location: Chr.11:104942866-104968598 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CASP4	NM_001225.3			NP_001216.1
	NM_033306.2			NP_150649.1
	XM_011543019.1			XP_011541321.1
	XM_017018397.1			XP_016873886.1
	AK057094.1
	AK225751.1
	AK304222.1
	BC017839.1			AAH17839.1
	CN261701.1
	U25804.1			AAA86890.1
	U28014.1			AAA75171.1
	U28976.1			AAC99850.1
	U28977.1			AAC99851.1
	U28978.1			AAC99852.1
	U28979.1			AAC99854.1
	Z48810.1			CAA88750.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1040784	Chr.11:104893070 - 104985151 on Build GRCh38	Loss	LOC643733 CASP4 CASP12
nsv1052674	Chr.11:104111970 - 107043401 on Build GRCh38	Loss	CARD16 LOC643733 KBTBD3 CARD17 CASP5 CASP1 LOC105369473 AASDHPPT MSANTD4 MIR7641-1 LOC101928535 PDGFD CASP4 CASP12 CASP1P2 GUCY1A2 CARD18 GRIA4 LOC102723895
esv2750978	Chr.11:104094062 - 105475331 on Build GRCh38	Gain	CARD16 LOC643733 CARD17 CASP5 CASP1 CARD18 MIR7641-1 PDGFD CASP4 LOC102723895 CASP12 CASP1P2
nsv1046098	Chr.11:104336482 - 105132934 on Build GRCh38	Loss	CARD16 LOC643733 CARD17 CASP5 CASP1 CASP4 LOC102723895 CASP12 CASP1P2
nsv1041081	Chr.11:104927048 - 105041731 on Build GRCh38	Loss	CARD16 CASP5 CASP1 CASP4
nsv468862	Chr.11:104903287 - 105372644 on Build GRCh38	Gain	CARD16 LOC643733 CARD17 CASP5 CASP1 CARD18 CASP4 CASP1P2
nsv832255	Chr.11:104804191 - 104976234 on Build GRCh38	Loss	LOC643733 CASP4 CASP12
nsv1038877	Chr.11:104166130 - 105422422 on Build GRCh38	Gain	CARD16 LOC643733 CARD17 CASP5 CASP1 CARD18 MIR7641-1 CASP4 LOC102723895 CASP12 CASP1P2

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protease

Gene Ontology Categories:

Process(es)

proteolysis
apoptotic process
inflammatory response
regulation of apoptotic process
innate immune response
regulation of inflammatory response
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
intrinsic apoptotic signaling pathway
cellular response to beta-amyloid

Function(s)

cysteine-type endopeptidase activity involved in apoptotic process