Hs04047503_cn

• Gene Symbol: CHRNA4
• Assay Reference Genome Location: Chr.20:63371208 on build GRCh38
• Cytoband: 20q13.33

Target Gene Details

• Entrez Gene ID: 1137
• Gene Name: cholinergic receptor nicotinic alpha 4 subunit
• Gene Aliases: BFNC, EBN, EBN1, NACHR, NACHRA4, NACRA4
• Location: Chr.20:63343310-63375392 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHRNA4	XM_017027624.1			XP_016883113.1
	XM_017027625.1			XP_016883114.1

Target Gene Details

• Entrez Gene ID: 100130587
• Gene Name: uncharacterized LOC100130587
• Gene Aliases: -
• Location: Chr.20:63359988-63371177 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100130587	NR_110634.1
	AK127527.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953306	Chr.20:63151949 - 63571247 on Build GRCh38	Deletion	ARFGAP1 LOC107985425 CHRNA4 MIR124-3 FLJ16779 EEF1A2 SRMS LOC102723788 PPDPF COL20A1 MIR4326 HELZ2 FNDC11 KCNQ2 YTHDF1 LOC100130587 PTK6 MIR3196 LOC100130152 BIRC7 NKAIN4
esv3646310	Chr.20:63370107 - 63376267 on Build GRCh38	Loss	LOC102723788 CHRNA4 LOC100130587
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	ARFGAP1 GMEB2 FLJ16779 LINC01056 EEF1A2 PPDPF COL20A1 COL9A3 MIR4326 HELZ2 FNDC11 LOC63930 KCNQ2 YTHDF1 LOC100130587 PTK6 MIR3196 LOC100130152 BHLHE23 OGFR DPH3P1 DIDO1 LOC107985425 CHRNA4 MIR124-3 TCFL5 GID8 OGFR-AS1 SLC17A9 LOC107985428 SRMS LOC102723788 HAR1B HAR1A LINC00659 LINC00029 BIRC7 NKAIN4 MRGBP
nsv470562	Chr.20:63362590 - 63460989 on Build GRCh38	Loss	LOC102723788 CHRNA4 KCNQ2 LOC100130587 LOC100130152

More Information

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

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

action potential
response to hypoxia
DNA repair
ion transport
calcium ion transport
response to oxidative stress
signal transduction
chemical synaptic transmission
synaptic transmission, cholinergic
neuromuscular synaptic transmission
respiratory gaseous exchange
locomotory behavior
regulation of dopamine secretion
sensory perception of pain
response to nicotine
behavioral response to nicotine
exploration behavior
B cell activation
regulation of membrane potential
neurological system process
cognition
membrane depolarization
inhibitory postsynaptic potential
cation transmembrane transport

Function(s)

acetylcholine-activated cation-selective channel activity
ligand-gated ion channel activity
acetylcholine receptor activity
acetylcholine binding