Hs04491013_cn

• Gene Symbol: CHRNA4
• Assay Reference Genome Location: Chr.20:63369599 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 4

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

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