Hs04035185_cn

• Gene Symbol: CHRNA4
• Assay Reference Genome Location: Chr.20:63367855 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 Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100130587	NR_110634.1	4	1742
	AK127527.1	4	1742

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

More Information

• Set Membership: Intragenic, Exonic, 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