Hs00211115_cn

• Gene Symbol: CASKIN2
• Assay Reference Genome Location: Chr.17:75501593 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 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CASKIN2	NM_001142643.2	18	3463	NP_001136115.1
	NM_020753.4	19	3980	NP_065804.2
	AB032965.1	15	3159
	AF451976.1	19	3833	AAL49757.1
	AK025262.1	4	1167
	AK300354.1	18	3410
	AK315936.1	18	3464
	BC066643.1	19	3943	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	TMEM94 SMIM5 CASKIN2 MYO15B ITGB4 LLGL2 TSEN54 RECQL5 MIR6785 SMIM6 SAP30BP
nsv516133	Chr.17:75420733 - 75763223 on Build GRCh38	Loss	TMEM94 SMIM5 GALK1 CASKIN2 MYO15B ITGB4 LLGL2 TSEN54 RECQL5 MIR6785 SMIM6 SAP30BP
nsv952368	Chr.17:75487920 - 75522019 on Build GRCh38	Deletion	TMEM94 CASKIN2 TSEN54 MIR6785
nsv576027	Chr.17:75249939 - 75750289 on Build GRCh38	Gain	SLC25A19 LOC100287042 GGA3 GRB2 MIR3678 ITGB4 MRPS7 RECQL5 MIR6785 TMEM94 SMIM5 CASKIN2 MIF4GD MYO15B LLGL2 TSEN54 SMIM6 SAP30BP
nsv833542	Chr.17:75441043 - 75544993 on Build GRCh38	Loss	TMEM94 CASKIN2 LLGL2 TSEN54 MIR6785

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