Hs02917482_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19788404 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: Overlaps - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNB1L	NM_053004.2			NP_443730.1
	AB051432.1	8	1467
	AF238328.1			AAG36826.1
	AF301895.1			AAG53933.1
	AY007378.1			AAG12162.1
	BC012060.1			AAH12060.1
	BF510806.1
	CA425124.1

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

More Information

• Set Membership: Intragenic, 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