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

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