Hs02673746_cn

• Gene Symbol: CASKIN2
• Assay Reference Genome Location: Chr.17:75501801 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 19 - Exon 19

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

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