Hs04083771_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19790455 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 54584
• Gene Name: G protein subunit beta 1 like
• Gene Aliases: DGCRK3, FKSG1, GY2, WDR14, WDVCF
• Location: Chr.22:19788411-19854939 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNB1L	NM_053004.2			NP_443730.1
	AB051432.1
	AF238328.1			AAG36826.1
	AF301895.1			AAG53933.1
	AY007378.1			AAG12162.1
	BC012060.1			AAH12060.1
	CA425124.1
	CR456496.1			CAG30382.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	CDC45 LINC00895 MIR1306 MIR1286 MIR3618 LOC284865 C22orf29 SEPT5 SEPT5-GP1BB RANBP1 ZDHHC8 CLDN5 COMT MIR6816 LOC440792 DGCR8 RTN4R GP1BB TXNRD2 TANGO2 TRMT2A UFD1L MIR4761 MIR185 ARVCF LOC101927859 DGCR6L GNB1L LINC00896 TBX1 CCDC188
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR1306 MIR1286 MIR3618 LOC284865 C22orf29 SEPT5 SEPT5-GP1BB RANBP1 ZDHHC8 COMT MIR6816 LOC440792 DGCR8 RTN4R GP1BB TXNRD2 TANGO2 TRMT2A MIR4761 MIR185 ARVCF DGCR6L GNB1L LINC00896 TBX1 CCDC188
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TXNRD2 C22orf29 GNB1L TBX1
nsv828943	Chr.22:19720750 - 19797550 on Build GRCh38	Loss	GP1BB GNB1L SEPT5 SEPT5-GP1BB TBX1
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	GP1BB TXNRD2 C22orf29 GNB1L SEPT5 SEPT5-GP1BB TBX1
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	RTN4R MIR1306 TXNRD2 MIR1286 MIR3618 TANGO2 LOC284865 C22orf29 TRMT2A MIR4761 MIR185 ARVCF RANBP1 ZDHHC8 DGCR6L COMT GNB1L MIR6816 LOC440792 LINC00896 DGCR8 TBX1 CCDC188
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	CDC45 LINC00895 GP1BB SEPT5 UFD1L SEPT5-GP1BB TSSK2 DGCR14 MRPL40 C22orf39 CLTCL1 LINC01311 HIRA CLDN5 GNB1L SLC25A1 DGCR2 GSC2 TBX1
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	GP1BB TXNRD2 C22orf29 GNB1L SEPT5 SEPT5-GP1BB TBX1
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	GP1BB GNB1L SEPT5 SEPT5-GP1BB TBX1
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR1306 MIR1286 MIR3618 LOC284865 C22orf29 SEPT5 SEPT5-GP1BB RANBP1 ZDHHC8 COMT MIR6816 LOC440792 DGCR8 RTN4R GP1BB TXNRD2 TANGO2 TRMT2A MIR4761 MIR185 ARVCF DGCR6L GNB1L LINC00896 TBX1 CCDC188
dgv725n67	Chr.22:19711970 - 19797426 on Build GRCh38	Gain	GP1BB GNB1L SEPT5 SEPT5-GP1BB TBX1
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	GNB1L TBX1
nsv834128	Chr.22:19634627 - 19803975 on Build GRCh38	Loss	GP1BB GNB1L SEPT5 SEPT5-GP1BB TBX1
nsv438325	Chr.22:19784656 - 19808063 on Build GRCh38	Loss	GNB1L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	CDC45 DGCR10 LINC00895 DGCR6 DGCR5 LOC100996415 C22orf29 SEPT5 SEPT5-GP1BB TSSK2 MRPL40 C22orf39 PRODH CLTCL1 USP18 DGCR9 GGT3P HIRA LOC102725072 CLDN5 COMT PI4KAP1 LOC100996432 SLC25A1 DGCR2 FAM230A GP1BB TXNRD2 DGCR11 LOC642643 UFD1L MIR4761 DGCR14 TMEM191B LINC01311 LOC729461 GNB1L RIMBP3 GSC2 TBX1 LOC100996401

More Information

Additional Information:

For this assay, SNP(s) [rs78401130] 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 -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

G-protein coupled receptor signaling pathway
social behavior
intracellular signal transduction

Function(s)

molecular_function