Hs03620042_cn

• Gene Symbol: IBTK
• Assay Reference Genome Location: Chr.6:82190387 on build GRCh38
• Cytoband: 6q14.1

Target Gene Details

• Entrez Gene ID: 25998
• Gene Name: inhibitor of Bruton tyrosine kinase
• Gene Aliases: BTBD26, BTKI
• Location: Chr.6:82169987-82248294 on Build GRCh38
• Assay Gene Location: Within Intron 25

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IBTK	NM_001300906.1			NP_001287835.1
	NM_015525.3			NP_056340.2
	XM_006715453.2			XP_006715516.1
	XM_006715454.2			XP_006715517.1
	AB037838.2
	AF235049.1			AAG27170.1
	AJ420593.1
	AK126777.1
	AL050018.1			CAB43239.1
	BC027490.1			AAH27490.1
	BC038244.2			AAH38244.2
	BC042171.1			AAH42171.2
	BC113696.1
	BC113698.1
	BC143736.1
	BC143745.1
	DQ005633.1			AAY55906.1
	DQ005635.1			AAY55908.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830713	Chr.6:82051484 - 82243853 on Build GRCh38	Gain	IBTK
nsv830715	Chr.6:82096940 - 82246610 on Build GRCh38	Loss	IBTK
nsv7937	Chr.6:82130518 - 82535071 on Build GRCh38	Loss	IBTK TPBG
nsv470837	Chr.6:82147657 - 82223592 on Build GRCh38	Gain	IBTK

More Information

Additional Information:

For this assay, SNP(s) [rs71766253] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

negative regulation of protein phosphorylation
release of sequestered calcium ion into cytosol
negative regulation of protein tyrosine kinase activity

Function(s)

protein kinase binding
protein tyrosine kinase inhibitor activity