Hs04193604_cn

• Gene Symbol: GNB1
• Assay Reference Genome Location: Chr.1:1803654 on build GRCh38
• Cytoband: 1p36.33

Target Gene Details

• Entrez Gene ID: 2782
• Gene Name: G protein subunit beta 1
• Gene Aliases: MRD42
• Location: Chr.1:1785285-1891117 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNB1	NM_001282538.1			NP_001269467.1
	NM_001282539.1			NP_001269468.1
	NM_002074.4			NP_002065.1
	XM_017001059.1			XP_016856548.1
	XM_017001060.1			XP_016856549.1
	XM_017001061.1			XP_016856550.1
	AF070603.1			AAC28655.1
	AF501882.1			AAM15918.1
	AK122949.1
	AK312614.1
	BC004186.2			AAH04186.1
	BC005888.2			AAH05888.1
	BC008991.1			AAH08991.1
	BC114618.1			AAI14619.1
	BT007305.1			AAP35969.1
	CR456784.1			CAG33065.1
	M36430.1			AAA63265.1
	X04526.1			CAA28207.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv5n111	Chr.1:1575421 - 1823403 on Build GRCh38	Deletion	MMP23A MMP23B CDK11B MIB2 SLC35E2 FNDC10 CDK11A NADK SLC35E2B GNB1
nsv834091	Chr.1:1701359 - 1880638 on Build GRCh38	Loss	MMP23A SLC35E2 CDK11A NADK GNB1
nsv482937	Chr.1:10001 - 2368561 on Build GRCh38	Loss	LOC100130417 MTND2P28 LOC729737 SLC35E2B LOC100506504 LOC100288069 MIR6723 SDF4 C1orf159 LOC105378592 FAM87B MORN1 TTLL10-AS1 LOC284600 MMP23B KLHL17 FAM41C RNF223 CPSF3L MTND1P23 ISG15 DDX11L1 MIR6859-1 FAM132A MIR6727 FNDC10 GABRD MIR200A VWA1 CCNL2 MRPL20 LOC107985728 CDK11B NOC2L MIR6808 NADK LOC100129534 GNB1 TAS1R3 MIB2 LOC107985729 LOC100287934 MIR6859-2 LOC100288175 ANKRD65 DVL1 PUSL1 UBE2J2 MIR1302-2 SCNN1D LOC100133331 MXRA8 CPTP HES4 LOC148413 PLEKHN1 LOC105378589 SLC35E2 ATAD3C LOC105378947 ACAP3 LOC102725121 OR4F5 MIR6726 OR4F16 MMP23A CDK11A SSU72 OR4F29 LOC105378949 ATAD3B LOC100132287 B3GALT6 CFAP74 WASH7P FAM138A PERM1 LOC107984841 CALML6 LINC00115 LOC100134822 LOC102724312 TNFRSF4 TNFRSF18 TMEM52 SKI LOC105378948 TMEM240 MIR429 LOC105378591 AURKAIP1 FAAP20 TTLL10 LINC01342 AGRN LINC01128 LOC101928626 MIR200B PRKCZ ATAD3A TMEM88B SAMD11
nsv1160797	Chr.1:1566216 - 1805918 on Build GRCh38	Duplication	MMP23A MMP23B CDK11B MIB2 SLC35E2 FNDC10 CDK11A NADK SSU72 SLC35E2B GNB1
nsv1160926	Chr.1:1772699 - 1905488 on Build GRCh38	Duplication	NADK LOC105378949 GNB1
dgv10n100	Chr.1:1779975 - 1884542 on Build GRCh38	Gain	NADK GNB1
esv2758913	Chr.1:1389149 - 2092899 on Build GRCh38	Gain+Loss	CDK11B LOC105378589 SLC35E2 ATAD3C NADK CALML6 SLC35E2B GNB1 MIB2 LOC107985729 LOC102724312 TMEM52 TMEM240 LOC105378591 ANKRD65 MMP23A MMP23B CDK11A SSU72 LOC105378949 ATAD3B CFAP74 FNDC10 GABRD PRKCZ ATAD3A VWA1 CCNL2 LOC148413 TMEM88B MRPL20

More Information

Additional Information:

For this assay, SNP(s) [rs75289190] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

heterotrimeric G-protein

Gene Ontology Categories:

Process(es)

protein folding
signal transduction
adenylate cyclase-activating dopamine receptor signaling pathway
phospholipase C-activating G-protein coupled receptor signaling pathway
positive regulation of cytosolic calcium ion concentration
G-protein coupled acetylcholine receptor signaling pathway
Wnt signaling pathway, calcium modulating pathway
Ras protein signal transduction
cell proliferation
cardiac muscle cell apoptotic process
rhodopsin mediated signaling pathway
platelet activation
sensory perception of taste
retina development in camera-type eye
cellular response to glucagon stimulus
cellular response to prostaglandin E stimulus
cellular response to hypoxia
cellular response to catecholamine stimulus

Function(s)

GTPase activity
signal transducer activity
protein binding
spectrin binding
type 1 angiotensin receptor binding
protein complex binding
GTPase binding