Hs02858372_cn

• Gene Symbol: CASKIN2
• Assay Reference Genome Location: Chr.17:75501465 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: Overlaps Intron 20 - Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CASKIN2	NM_001142643.2			NP_001136115.1
	NM_020753.4			NP_065804.2
	AB032965.1
	AF451976.1			AAL49757.1
	AK025262.1
	AK300354.1
	AK315936.1
	BC066643.1			AAH66643.1

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

More Information

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

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

signal transduction
biological_process

Function(s)

molecular_function