Hs06305563_cn

• Gene Symbol: CASP4
• Assay Reference Genome Location: Chr.11:104955814 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: Within Intron 2

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
	AK296081.1
	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	CASP12 CASP4 LOC643733
esv2750978	Chr.11:104094062 - 105475331 on Build GRCh38	Gain	CASP1 LOC102723895 CASP12 PDGFD CARD17 CASP5 MIR7641-1 CASP4 CARD16 CARD18 CASP1P2 LOC643733
nsv1052674	Chr.11:104111970 - 107043401 on Build GRCh38	Loss	LOC102723895 LOC101928535 PDGFD CASP5 CARD16 CARD18 MSANTD4 GRIA4 GUCY1A2 CASP1P2 LOC643733 CASP1 CASP12 CARD17 AASDHPPT MIR7641-1 CASP4 KBTBD3 LOC105369473
nsv1046098	Chr.11:104336482 - 105132934 on Build GRCh38	Loss	CASP1 LOC102723895 CASP12 CARD17 CASP5 CASP4 CARD16 CASP1P2 LOC643733
nsv556218	Chr.11:104903287 - 105372644 on Build GRCh38	Gain	CASP1 CARD17 CASP5 CASP4 CARD16 CARD18 CASP1P2 LOC643733
nsv1041081	Chr.11:104927048 - 105041731 on Build GRCh38	Loss	CASP1 CASP5 CASP4 CARD16
nsv832255	Chr.11:104804191 - 104976234 on Build GRCh38	Loss	CASP12 CASP4 LOC643733
nsv469	Chr.11:104955575 - 104984109 on Build GRCh38	Insertion	CASP4
nsv1038877	Chr.11:104166130 - 105422422 on Build GRCh38	Gain	CASP1 LOC102723895 CASP12 CARD17 CASP5 MIR7641-1 CASP4 CARD16 CARD18 CASP1P2 LOC643733

More Information

• Set Membership: Intragenic, Intronic, 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