Hs00135529_cn

• Gene Symbol: ABL1
• Assay Reference Genome Location: Chr.9:130714477 on build GRCh38
• Cytoband: 9q34.12

Target Gene Details

• Entrez Gene ID: 25
• Gene Name: ABL proto-oncogene 1, non-receptor tyrosine kinase
• Gene Aliases: ABL, JTK7, bcr/abl, c-ABL, c-ABL1, p150, v-abl
• Location: Chr.9:130713881-130887675 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABL1	NM_007313.2			NP_009297.2
	AB209456.1			BAD92693.1
	AB209642.1			BAD92879.1
	AL707819.1
	BC117451.1
	CA335983.1
	M14753.1			AAA51562.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3621866	Chr.9:130695968 - 131205700 on Build GRCh38	Gain	ABL1 FIBCD1 QRFP AIF1L LAMC3 NUP214 EXOSC2
nsv831735	Chr.9:130598942 - 130791581 on Build GRCh38	Loss	ABL1 PRDM12 MIR6856 FUBP3 EXOSC2

More Information

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

Gene Ontology Categories:

Process(es)

B-1 B cell homeostasis
positive regulation of protein phosphorylation
B cell proliferation involved in immune response
transitional one stage B cell differentiation
mismatch repair
regulation of transcription, DNA-templated
cellular protein modification process
autophagy
cellular response to DNA damage stimulus
DNA damage induced protein phosphorylation
response to oxidative stress
cell cycle arrest
mitotic nuclear division
epidermal growth factor receptor signaling pathway
positive regulation of cytosolic calcium ion concentration
intrinsic apoptotic signaling pathway in response to DNA damage
regulation of autophagy
peptidyl-tyrosine phosphorylation
cerebellum morphogenesis
negative regulation of cell-cell adhesion
microspike assembly
actin cytoskeleton organization
regulation of endocytosis
regulation of cell adhesion
negative regulation of BMP signaling pathway
regulation of axon extension
regulation of microtubule polymerization
regulation of actin cytoskeleton organization
positive regulation of osteoblast proliferation
substrate adhesion-dependent cell spreading
cellular response to oxidative stress
platelet-derived growth factor receptor-beta signaling pathway
peptidyl-tyrosine autophosphorylation
Fc-gamma receptor signaling pathway involved in phagocytosis
regulation of cell proliferation
signal transduction in response to DNA damage
positive regulation of apoptotic process
positive regulation of I-kappaB kinase/NF-kappaB signaling
negative regulation of I-kappaB kinase/NF-kappaB signaling
innate immune response
establishment of protein localization
negative regulation of mitotic cell cycle
positive regulation of mitotic cell cycle
alpha-beta T cell differentiation
protein autophosphorylation
spleen development
thymus development
collateral sprouting
positive regulation of peptidyl-tyrosine phosphorylation
activated T cell proliferation
B cell receptor signaling pathway
neuromuscular process controlling balance
positive regulation of muscle cell differentiation
positive regulation of release of sequestered calcium ion into cytosol
positive regulation of oxidoreductase activity
negative regulation of ubiquitin-protein transferase activity
mitochondrial depolarization
Bergmann glial cell differentiation
cellular response to hydrogen peroxide
negative regulation of ERK1 and ERK2 cascade
positive regulation of ERK1 and ERK2 cascade
cellular response to lipopolysaccharide
negative regulation of protein serine/threonine kinase activity
actin filament branching
positive regulation of interleukin-2 secretion
negative regulation of phospholipase C activity
positive regulation of neuron death
positive regulation of interferon-gamma secretion
regulation of extracellular matrix organization
cellular response to dopamine
positive regulation of microtubule binding
positive regulation of actin filament binding
activation of protein kinase C activity
positive regulation of Wnt signaling pathway, planar cell polarity pathway
regulation of cell motility
regulation of actin cytoskeleton reorganization
negative regulation of endothelial cell apoptotic process
negative regulation of cellular senescence
regulation of response to DNA damage stimulus

Function(s)

magnesium ion binding
DNA binding
actin monomer binding
nicotinate-nucleotide adenylyltransferase activity
protein kinase activity
protein tyrosine kinase activity
non-membrane spanning protein tyrosine kinase activity
protein kinase C binding
receptor binding
protein binding
ATP binding
protein C-terminus binding
SH3 domain binding
syntaxin binding
manganese ion binding
actin filament binding
mitogen-activated protein kinase binding
proline-rich region binding