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	CASP4 LOC643733 CASP12
esv2750978	Chr.11:104094062 - 105475331 on Build GRCh38	Gain	CASP4 LOC102723895 CARD18 CARD17 CASP5 PDGFD CARD16 MIR7641-1 CASP1 CASP1P2 LOC643733 CASP12
nsv1052674	Chr.11:104111970 - 107043401 on Build GRCh38	Loss	CARD18 CARD17 PDGFD CARD16 GUCY1A2 CASP1P2 AASDHPPT CASP12 CASP4 LOC102723895 GRIA4 KBTBD3 LOC105369473 CASP5 MIR7641-1 MSANTD4 CASP1 LOC101928535 LOC643733
nsv1046098	Chr.11:104336482 - 105132934 on Build GRCh38	Loss	CASP4 LOC102723895 CARD17 CASP5 CARD16 CASP1 CASP1P2 LOC643733 CASP12
nsv556218	Chr.11:104903287 - 105372644 on Build GRCh38	Gain	CASP4 CARD18 CARD17 CASP5 CARD16 CASP1 CASP1P2 LOC643733
nsv1041081	Chr.11:104927048 - 105041731 on Build GRCh38	Loss	CASP4 CASP5 CARD16 CASP1
nsv832255	Chr.11:104804191 - 104976234 on Build GRCh38	Loss	CASP4 LOC643733 CASP12
nsv1038877	Chr.11:104166130 - 105422422 on Build GRCh38	Gain	CASP4 LOC102723895 CARD18 CARD17 CASP5 CARD16 MIR7641-1 CASP1 CASP1P2 LOC643733 CASP12

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