Hs02502414_cn

• Gene Symbol: IBTK
• Assay Reference Genome Location: Chr.6:82171009 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 Exon 30

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IBTK	NM_001300906.1	29	4983	NP_001287835.1
	NM_015525.3	29	5028	NP_056340.2
	XM_006715453.2	30	5691	XP_006715516.1
	XM_006715454.2	30	5646	XP_006715517.1
	AB037838.2	28	4752
	AF235049.1	6	1447	AAG27170.1
	AJ420588.1	4	912
	AJ420593.1	5	932
	AK123460.1	2	1748
	AK126777.1	13	2893
	AL050018.1	9	1568	CAB43239.1
	BC027490.1	7	1212	AAH27490.1
	BC038244.2	12	1866	AAH38244.2
	BC042171.1	8	1411	AAH42171.2
	DQ005633.1	29	5028	AAY55906.1
	DQ005635.1	5	1558	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	TPBG IBTK
nsv470837	Chr.6:82147657 - 82223592 on Build GRCh38	Gain	IBTK

More Information

• Set Membership: Intragenic, 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