Hs02720065_cn

• Gene Symbol: ISL1
• Assay Reference Genome Location: Chr.5:51389867 on build GRCh38
• Cytoband: 5q11.1

Target Gene Details

• Entrez Gene ID: 3670
• Gene Name: ISL LIM homeobox 1
• Gene Aliases: ISLET1, Isl-1
• Location: Chr.5:51383124-51394730 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ISL1	NM_002202.2	4	1248	NP_002193.2
	XM_011543380.2	3	2366	XP_011541682.1
	AK290742.1	4	966
	BC031213.1	4	1249	AAH31213.1
	S70721.1	4	705	AAD14064.1
	U07559.1	4	939	AAA81946.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830288	Chr.5:51302388 - 51459407 on Build GRCh38	Gain	ISL1 LOC642366

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
neural crest cell migration
secondary heart field specification
outflow tract septum morphogenesis
outflow tract morphogenesis
endocardial cushion morphogenesis
cardiac right ventricle morphogenesis
regulation of secondary heart field cardioblast proliferation
regulation of transcription from RNA polymerase II promoter
transcription from RNA polymerase II promoter
positive regulation of cell proliferation
positive regulation of vascular endothelial growth factor production
spinal cord motor neuron cell fate specification
spinal cord motor neuron differentiation
visceral motor neuron differentiation
trigeminal nerve development
pituitary gland development
pancreas development
axon regeneration
retinal ganglion cell axon guidance
positive regulation of insulin secretion
positive regulation of granulocyte macrophage colony-stimulating factor production
positive regulation of interferon-gamma production
positive regulation of interleukin-1 alpha production
positive regulation of interleukin-1 beta production
positive regulation of interleukin-12 production
positive regulation of interleukin-6 production
positive regulation of tumor necrosis factor production
negative regulation of intracellular estrogen receptor signaling pathway
positive regulation of histone acetylation
positive regulation of tyrosine phosphorylation of Stat3 protein
positive regulation of DNA binding
negative regulation of neuron apoptotic process
negative regulation of neuron differentiation
positive regulation of angiogenesis
positive regulation of transcription from RNA polymerase II promoter
neuron fate specification
mesenchymal cell differentiation
sensory system development
peripheral nervous system neuron axonogenesis
negative regulation of inflammatory response
ventricular cardiac muscle tissue morphogenesis
pharyngeal system development
cardiac muscle cell myoblast differentiation
innervation
atrial septum morphogenesis
cardiac cell fate determination
cellular response to glucocorticoid stimulus
positive regulation of granulocyte colony-stimulating factor production
negative regulation of protein homodimerization activity
negative regulation of canonical Wnt signaling pathway
positive regulation of macrophage colony-stimulating factor production

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II activating transcription factor binding
RNA polymerase II transcription coactivator activity
enhancer sequence-specific DNA binding
chromatin binding
protein binding
zinc ion binding
ligand-dependent nuclear receptor binding
estrogen receptor binding
bHLH transcription factor binding