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

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