Hs02230393_cn

• Gene Symbol: HEYL
• Assay Reference Genome Location: Chr.1:39626454 on build GRCh38
• Cytoband: 1p34.2

Target Gene Details

• Entrez Gene ID: 26508
• Gene Name: hes related family bHLH transcription factor with YRPW motif-like
• Gene Aliases: HESR3, HEY3, HRT3, bHLHb33
• Location: Chr.1:39623431-39639676 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HEYL	NM_014571.3	5	1091	NP_055386.1
	XM_005270745.2	5	1145	XP_005270802.1
	AJ272215.1			CAB75716.1
	AK300463.1
	BC006087.1	5	1061	AAH06087.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv829649	Chr.1:39505283 - 39638842 on Build GRCh38	Loss	SNORA55 PABPC4 PPIEL BMP8A OXCT2P1 LOC101929516 HEYL

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
outflow tract morphogenesis
atrioventricular valve morphogenesis
pulmonary valve morphogenesis
epithelial to mesenchymal transition involved in endocardial cushion formation
endocardial cushion morphogenesis
cardiac ventricle morphogenesis
transcription from RNA polymerase II promoter
Notch signaling pathway
mesenchymal cell development
glomerulus development
skeletal muscle cell differentiation
positive regulation of neuron differentiation
negative regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
cardiac epithelial to mesenchymal transition
ventricular septum morphogenesis
negative regulation of androgen receptor signaling pathway
cellular response to BMP stimulus
proximal tubule development
negative regulation of androgen receptor activity

Function(s)

RNA polymerase II core promoter sequence-specific DNA binding
transcription factor activity, RNA polymerase II core promoter sequence-specific
transcription factor activity, protein binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II transcription corepressor activity
transcription factor activity, sequence-specific DNA binding
transcription corepressor activity
protein binding
transcription factor binding
microsatellite binding
protein homodimerization activity
protein heterodimerization activity
AF-1 domain binding