Hs04082278_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19791799 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	MIR1306 SEPT5-GP1BB RANBP1 CLDN5 LINC00896 CCDC188 GNB1L ARVCF COMT LOC101927859 CDC45 DGCR6L MIR185 GP1BB RTN4R MIR3618 SEPT5 TBX1 ZDHHC8 MIR6816 TXNRD2 MIR4761 DGCR8 TANGO2 MIR1286 TRMT2A LOC284865 LOC440792 LINC00895 UFD1L C22orf29
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR1306 SEPT5-GP1BB RANBP1 LINC00896 CCDC188 GNB1L ARVCF COMT DGCR6L MIR185 GP1BB RTN4R MIR3618 SEPT5 TBX1 ZDHHC8 MIR6816 TXNRD2 MIR4761 DGCR8 TANGO2 MIR1286 TRMT2A LOC284865 LOC440792 C22orf29
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TBX1 TXNRD2 GNB1L C22orf29
nsv828943	Chr.22:19720750 - 19797550 on Build GRCh38	Loss	TBX1 SEPT5-GP1BB GP1BB GNB1L SEPT5
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TBX1 SEPT5-GP1BB GP1BB TXNRD2 GNB1L SEPT5 C22orf29
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR1306 MIR185 RANBP1 RTN4R LINC00896 CCDC188 GNB1L MIR3618 TBX1 ZDHHC8 ARVCF MIR6816 COMT TXNRD2 MIR4761 DGCR8 TANGO2 MIR1286 TRMT2A DGCR6L LOC284865 LOC440792 C22orf29
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	SEPT5-GP1BB GP1BB GSC2 DGCR14 CLDN5 HIRA TSSK2 GNB1L SLC25A1 C22orf39 SEPT5 TBX1 CLTCL1 MRPL40 CDC45 LINC01311 LINC00895 DGCR2 UFD1L
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	TBX1 SEPT5-GP1BB GP1BB TXNRD2 GNB1L SEPT5 C22orf29
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	TBX1 SEPT5-GP1BB GP1BB GNB1L SEPT5
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR1306 SEPT5-GP1BB RANBP1 LINC00896 CCDC188 GNB1L ARVCF COMT DGCR6L MIR185 GP1BB RTN4R MIR3618 SEPT5 TBX1 ZDHHC8 MIR6816 TXNRD2 MIR4761 DGCR8 TANGO2 MIR1286 TRMT2A LOC284865 LOC440792 C22orf29
dgv725n67	Chr.22:19711970 - 19797426 on Build GRCh38	Gain	TBX1 SEPT5-GP1BB GP1BB GNB1L SEPT5
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	TBX1 GNB1L
nsv834128	Chr.22:19634627 - 19803975 on Build GRCh38	Loss	TBX1 SEPT5-GP1BB GP1BB GNB1L SEPT5
nsv438325	Chr.22:19784656 - 19808063 on Build GRCh38	Loss	GNB1L
nsv964584	Chr.22:19791729 - 19795952 on Build GRCh38	Duplication	GNB1L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LOC100996432 SEPT5-GP1BB GSC2 PRODH DGCR14 CLDN5 TSSK2 LOC100996415 GNB1L LOC102725072 SLC25A1 LOC729461 C22orf39 DGCR9 CLTCL1 DGCR5 COMT TMEM191B PI4KAP1 MRPL40 RIMBP3 LOC100996401 CDC45 DGCR6 DGCR11 DGCR2 FAM230A LOC642643 GP1BB HIRA USP18 DGCR10 SEPT5 TBX1 TXNRD2 MIR4761 GGT3P LINC01311 LINC00895 UFD1L C22orf29

More Information

• 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