Hs02853681_cn

• Gene Symbol: CASP4
• Assay Reference Genome Location: Chr.11:104956687 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 1 - Exon 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
	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	CASP4 CASP12 LOC643733
nsv1052674	Chr.11:104111970 - 107043401 on Build GRCh38	Loss	AASDHPPT CASP4 CASP12 CARD17 LOC643733 GUCY1A2 KBTBD3 CASP5 MIR7641-1 CASP1 LOC105369473 CARD18 GRIA4 LOC102723895 CASP1P2 LOC101928535 MSANTD4 PDGFD CARD16
esv2750978	Chr.11:104094062 - 105475331 on Build GRCh38	Gain	CASP5 CASP4 MIR7641-1 CASP12 CARD17 CASP1 CARD18 LOC643733 LOC102723895 CASP1P2 PDGFD CARD16
nsv1046098	Chr.11:104336482 - 105132934 on Build GRCh38	Loss	CASP5 CASP4 CASP12 CARD17 CASP1 LOC643733 LOC102723895 CASP1P2 CARD16
nsv1041081	Chr.11:104927048 - 105041731 on Build GRCh38	Loss	CASP5 CASP4 CASP1 CARD16
nsv468862	Chr.11:104903287 - 105372644 on Build GRCh38	Gain	CASP5 CASP4 CARD17 CASP1 CARD18 LOC643733 CASP1P2 CARD16
nsv832255	Chr.11:104804191 - 104976234 on Build GRCh38	Loss	CASP4 CASP12 LOC643733
nsv469	Chr.11:104955575 - 104984109 on Build GRCh38	Insertion	CASP4
nsv1038877	Chr.11:104166130 - 105422422 on Build GRCh38	Gain	CASP5 CASP4 MIR7641-1 CASP12 CARD17 CASP1 CARD18 LOC643733 LOC102723895 CASP1P2 CARD16

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