Hs03348438_cn

• Gene Symbol: GNB1
• Assay Reference Genome Location: Chr.1:1794445 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 SLC35E2 SLC35E2B GNB1 FNDC10 MMP23B MMP23A CDK11B CDK11A NADK
nsv834091	Chr.1:1701359 - 1880638 on Build GRCh38	Loss	SLC35E2 GNB1 MMP23A CDK11A NADK
nsv482937	Chr.1:10001 - 2368561 on Build GRCh38	Loss	FAM41C TMEM240 LOC100132287 LOC284600 NADK MRPL20 LOC105378949 LOC100288175 LOC102724312 PERM1 HES4 ATAD3B LOC100287934 LINC01342 GABRD GNB1 OR4F16 MIR6859-2 FAM87B AURKAIP1 FAM138A PLEKHN1 CALML6 LOC105378592 DDX11L1 LOC105378589 VWA1 SKI MXRA8 MTND1P23 RNF223 PUSL1 CPTP ACAP3 TNFRSF18 TMEM88B LOC101928626 ISG15 OR4F5 SLC35E2B MIR200A MIR429 MMP23B CDK11B MIB2 LOC107984841 CCNL2 ATAD3C MIR6808 B3GALT6 MMP23A TMEM52 AGRN SSU72 LOC100506504 LINC01128 MIR6859-1 OR4F29 PRKCZ LOC100130417 SDF4 LOC100133331 LOC148413 MIR6726 LOC105378947 LOC105378591 CDK11A LOC729737 CFAP74 MIR1302-2 FNDC10 LOC102725121 TTLL10-AS1 TTLL10 SLC35E2 DVL1 NOC2L CPSF3L MIR6723 SAMD11 FAAP20 TNFRSF4 TAS1R3 C1orf159 ANKRD65 LOC107985729 WASH7P LOC100288069 MIR6727 UBE2J2 ATAD3A MIR200B LOC100134822 LINC00115 MTND2P28 SCNN1D LOC107985728 MORN1 LOC105378948 KLHL17 FAM132A LOC100129534
nsv1160797	Chr.1:1566216 - 1805918 on Build GRCh38	Duplication	MIB2 SLC35E2 SLC35E2B GNB1 FNDC10 MMP23B MMP23A CDK11B CDK11A NADK SSU72
nsv1160926	Chr.1:1772699 - 1905488 on Build GRCh38	Duplication	GNB1 NADK LOC105378949
dgv10n100	Chr.1:1779975 - 1884542 on Build GRCh38	Gain	GNB1 NADK
esv2758913	Chr.1:1389149 - 2092899 on Build GRCh38	Gain+Loss	SLC35E2 CALML6 TMEM240 LOC105378589 NADK MRPL20 LOC105378949 VWA1 PRKCZ LOC102724312 ANKRD65 LOC107985729 ATAD3B TMEM88B ATAD3A LOC148413 GABRD SLC35E2B GNB1 MMP23B LOC105378591 CDK11B CDK11A CFAP74 MIB2 CCNL2 ATAD3C FNDC10 MMP23A TMEM52 SSU72

More Information

Additional Information:

For this assay, SNP(s) [rs80008930] 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