Hs04038305_cn

• Gene Symbol: CHRNA4
• Assay Reference Genome Location: Chr.20:63369003 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 4 - 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	LOC107985425 MIR3196 LOC102723788 MIR4326 EEF1A2 YTHDF1 SRMS FLJ16779 MIR124-3 PPDPF CHRNA4 COL20A1 PTK6 LOC100130587 LOC100130152 NKAIN4 HELZ2 ARFGAP1 BIRC7 FNDC11 KCNQ2
nsv9825	Chr.20:62775470 - 63601330 on Build GRCh38	Gain	LOC107985425 LOC102723788 GMEB2 YTHDF1 COL9A3 SRMS FLJ16779 PPDPF CHRNA4 SLC17A9 COL20A1 GID8 LOC100130587 LINC00029 OGFR NKAIN4 HAR1B LOC107985428 HELZ2 BIRC7 FNDC11 KCNQ2 TCFL5 MIR3196 LINC00659 MIR4326 EEF1A2 HAR1A MIR124-3 MRGBP PTK6 BHLHE23 LOC100130152 LINC01056 OGFR-AS1 DPH3P1 LOC63930 ARFGAP1 DIDO1
nsv470562	Chr.20:63362590 - 63460989 on Build GRCh38	Loss	LOC100130587 LOC102723788 LOC100130152 CHRNA4 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