Hs02570762_cn

• Gene Symbol: ASCL1
• Assay Reference Genome Location: Chr.12:102960229 on build GRCh38
• Cytoband: 12q23.2

Target Gene Details

• Entrez Gene ID: 429
• Gene Name: achaete-scute family bHLH transcription factor 1
• Gene Aliases: ASH1, HASH1, MASH1, bHLHa46
• Location: Chr.12:102957674-102960516 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASCL1	NM_004316.3	2	2197	NP_004307.2
	AW071836.1	1	294
	BC004425.1	2	2185	AAH04425.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3581838	Chr.12:102959348 - 102960527 on Build GRCh38	Gain	ASCL1

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
neuron migration
noradrenergic neuron development
noradrenergic neuron fate commitment
transcription, DNA-templated
Notch signaling pathway
regulation of mitotic cell cycle
neuroblast fate determination
neuroblast proliferation
response to lithium ion
regulation of gene expression
oligodendrocyte development
spinal cord association neuron differentiation
spinal cord oligodendrocyte cell fate specification
vestibular nucleus development
cerebral cortex GABAergic interneuron differentiation
commitment of neuronal cell to specific neuron type in forebrain
central nervous system neuron development
cerebral cortex development
neurogenesis
regulation of epithelial cell differentiation
response to retinoic acid
negative regulation of apoptotic process
positive regulation of neuron apoptotic process
negative regulation of neuron differentiation
positive regulation of neuron differentiation
positive regulation of Notch signaling pathway
positive regulation of cell cycle
negative regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
cell maturation
sympathetic nervous system development
neuron fate specification
musculoskeletal movement, spinal reflex action
response to folic acid
subpallium neuron fate commitment
regulation of timing of subpallium neuron differentiation
olfactory pit development
lung epithelial cell differentiation
ventral spinal cord interneuron fate commitment
lung neuroendocrine cell differentiation
stomach neuroendocrine cell differentiation
carotid body glomus cell differentiation
adrenal chromaffin cell differentiation
sympathetic ganglion development
response to epidermal growth factor
cellular response to magnetism
positive regulation of neural precursor cell proliferation

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcription factor activity, transcription factor binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
DNA binding
chromatin binding
transcription factor activity, sequence-specific DNA binding
protein binding
protein homodimerization activity
bHLH transcription factor binding
E-box binding