Hs02407650_cn

• Gene Symbol: ITGB1BP1
• Assay Reference Genome Location: Chr.2:9418645 on build GRCh38
• Cytoband: 2p25.1

Target Gene Details

• Entrez Gene ID: 9270
• Gene Name: integrin subunit beta 1 binding protein 1
• Gene Aliases: ICAP-1A, ICAP-1B, ICAP-1alpha, ICAP1, ICAP1A, ICAP1B
• Location: Chr.2:9405681-9423569 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITGB1BP1	NM_001319066.1			NP_001305995.1
	NM_001319067.1			NP_001305996.1
	NM_001319068.1			NP_001305997.1
	NM_001319069.1			NP_001305998.1
	NM_001319070.1			NP_001305999.1
	NM_004763.4			NP_004754.1
	NM_022334.4			NP_071729.1
	NR_134951.1
	NR_134952.1
	NR_134953.1
	NR_134954.1
	NR_134955.1
	NR_134956.1
	NR_134957.1
	XM_005246183.4			XP_005246240.1
	XM_005246184.4			XP_005246241.1
	XM_005246185.4			XP_005246242.1
	XM_005246189.4			XP_005246246.1
	XM_006711903.3			XP_006711966.1
	XM_011510416.2			XP_011508718.1
	XM_017005267.1			XP_016860756.1
	XM_017005268.1			XP_016860757.1
	XM_017005269.1			XP_016860758.1
	XM_017005270.1			XP_016860759.1
	AF012023.1			AAB88671.1
	AF012024.1			AAB88672.1
	AI144519.1
	AI336197.1
	AK093179.1
	AK289817.1
	AK299017.1
	AU280516.1
	BC012264.1			AAH12264.1
	BE146261.1
	BG032225.1
	BM823938.1
	BQ421551.1
	BQ425555.1
	BU520903.1
	BX647099.1
	BY996754.1
	CR457006.1			CAG33287.1
	CT002942.1
	DA087859.1
	DA751320.1
	DB167886.1
	DC321859.1
	DC361372.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv580915	Chr.2:9168019 - 9704049 on Build GRCh38	Gain	LOC101926982 ADAM17 CPSF3 ITGB1BP1 LOC105373418 YWHAQ ASAP2 IAH1
nsv2602	Chr.2:9408817 - 9453535 on Build GRCh38	Deletion	CPSF3 ITGB1BP1

More Information

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

Gene Ontology Categories:

Process(es)

blood vessel endothelial cell proliferation involved in sprouting angiogenesis
transcription, DNA-templated
negative regulation of protein kinase activity
negative regulation of cell adhesion involved in substrate-bound cell migration
cell-matrix adhesion
Notch signaling pathway
integrin-mediated signaling pathway
positive regulation of cell proliferation
negative regulation of cell proliferation
positive regulation of endothelial cell migration
negative regulation of fibroblast migration
protein transport
cell migration
cell differentiation
biomineral tissue development
negative regulation of protein binding
activation of protein kinase B activity
integrin activation
regulation of cell adhesion mediated by integrin
tube formation
intracellular signal transduction
cellular response to vascular endothelial growth factor stimulus
regulation of GTPase activity
receptor clustering
cellular response to fibroblast growth factor stimulus
positive regulation of Notch signaling pathway
positive regulation of transcription from RNA polymerase II promoter
regulation of blood vessel size
myoblast migration
positive regulation of stress fiber assembly
positive regulation of cell division
positive regulation of focal adhesion assembly
negative regulation of focal adhesion assembly
positive regulation of protein kinase B signaling
negative regulation of ERK1 and ERK2 cascade
negative regulation of cell migration involved in sprouting angiogenesis
positive regulation of protein targeting to membrane
negative regulation of protein targeting to membrane
negative regulation of substrate adhesion-dependent cell spreading
regulation of integrin-mediated signaling pathway

Function(s)

GDP-dissociation inhibitor activity
integrin binding
protein binding
protein transporter activity
protein kinase binding
protein complex binding