Hs04050611_cn

• Gene Symbol: CHRNA4
• Assay Reference Genome Location: Chr.20:63363203 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: Within Intron 2

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

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