Hs00742003_cn

• Gene Symbol: CASKIN2
• Assay Reference Genome Location: Chr.17:75500598 on build GRCh38
• Cytoband: 17q25.1

Target Gene Details

• Entrez Gene ID: 57513
• Gene Name: CASK interacting protein 2
• Gene Aliases: ANKS5B
• Location: Chr.17:75500260-75515583 on Build GRCh38
• Assay Gene Location: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CASKIN2	NM_001142643.2	19	4161	NP_001136115.1
	NM_020753.4	20	4678	NP_065804.2
	AB032965.1	16	3857
	AF451976.1	20	4531	AAL49757.1
	AK025262.1	5	1865
	BC066643.1	20	4641	AAH66643.1
	BM994645.1	1	355

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470603	Chr.17:75468213 - 75741366 on Build GRCh38	Loss	RECQL5 LLGL2 ITGB4 SMIM5 SMIM6 CASKIN2 TSEN54 SAP30BP MIR6785 MYO15B TMEM94
nsv516133	Chr.17:75420733 - 75763223 on Build GRCh38	Loss	RECQL5 LLGL2 ITGB4 SMIM5 GALK1 SMIM6 CASKIN2 TSEN54 SAP30BP MIR6785 MYO15B TMEM94
nsv952368	Chr.17:75487920 - 75522019 on Build GRCh38	Deletion	CASKIN2 TSEN54 MIR6785 TMEM94
nsv576027	Chr.17:75249939 - 75750289 on Build GRCh38	Gain	LOC100287042 RECQL5 GRB2 SMIM6 SAP30BP MYO15B MRPS7 LLGL2 ITGB4 SMIM5 SLC25A19 GGA3 CASKIN2 TSEN54 MIR6785 MIF4GD MIR3678 TMEM94
nsv833542	Chr.17:75441043 - 75544993 on Build GRCh38	Loss	LLGL2 CASKIN2 TSEN54 MIR6785 TMEM94

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

signal transduction
biological_process

Function(s)

molecular_function