Hs01676772_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19788728 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 Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNB1L	NM_053004.2	8	1202	NP_443730.1
	AB051432.1	8	1143
	AF238328.1			AAG36826.1
	AF301895.1	8	1167	AAG53933.1
	AY007378.1	8	1202	AAG12162.1
	BC012060.1	8	1103	AAH12060.1
	BF510806.1	1	329
	CA425124.1	1	336
	CR456496.1	6	999	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	LOC101927859 MIR6816 GP1BB MIR1306 DGCR6L UFD1L ZDHHC8 LOC440792 DGCR8 CLDN5 TRMT2A MIR1286 ARVCF MIR3618 C22orf29 MIR185 TANGO2 GNB1L TXNRD2 LINC00896 LINC00895 COMT MIR4761 RTN4R RANBP1 CDC45 LOC284865 TBX1 SEPT5-GP1BB CCDC188 SEPT5
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR6816 GP1BB MIR1306 DGCR6L ZDHHC8 LOC440792 DGCR8 TRMT2A MIR1286 ARVCF MIR3618 C22orf29 MIR185 TANGO2 GNB1L TXNRD2 LINC00896 COMT MIR4761 RTN4R RANBP1 LOC284865 TBX1 SEPT5-GP1BB CCDC188 SEPT5
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	GNB1L TXNRD2 TBX1 C22orf29
nsv828943	Chr.22:19720750 - 19797550 on Build GRCh38	Loss	GNB1L GP1BB TBX1 SEPT5-GP1BB SEPT5
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	GNB1L TXNRD2 GP1BB TBX1 C22orf29 SEPT5-GP1BB SEPT5
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	GNB1L TXNRD2 MIR6816 LINC00896 MIR1306 DGCR6L COMT ZDHHC8 LOC440792 DGCR8 TRMT2A MIR1286 ARVCF MIR4761 RTN4R MIR3618 RANBP1 LOC284865 TBX1 C22orf29 CCDC188 MIR185 TANGO2
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	CLTCL1 GNB1L MRPL40 HIRA GP1BB DGCR2 SLC25A1 UFD1L LINC00895 C22orf39 GSC2 CLDN5 CDC45 TBX1 SEPT5-GP1BB TSSK2 SEPT5 DGCR14 LINC01311
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	GNB1L TXNRD2 GP1BB TBX1 C22orf29 SEPT5-GP1BB SEPT5
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	GNB1L GP1BB TBX1 SEPT5-GP1BB SEPT5
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR6816 GP1BB MIR1306 DGCR6L ZDHHC8 LOC440792 DGCR8 TRMT2A MIR1286 ARVCF MIR3618 C22orf29 MIR185 TANGO2 GNB1L TXNRD2 LINC00896 COMT MIR4761 RTN4R RANBP1 LOC284865 TBX1 SEPT5-GP1BB CCDC188 SEPT5
dgv725n67	Chr.22:19711970 - 19797426 on Build GRCh38	Gain	GNB1L GP1BB TBX1 SEPT5-GP1BB SEPT5
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	GNB1L TBX1
nsv834128	Chr.22:19634627 - 19803975 on Build GRCh38	Loss	GNB1L GP1BB TBX1 SEPT5-GP1BB SEPT5
nsv438325	Chr.22:19784656 - 19808063 on Build GRCh38	Loss	GNB1L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	CLTCL1 LOC100996401 DGCR9 RIMBP3 HIRA GP1BB DGCR2 FAM230A SLC25A1 UFD1L LOC100996432 DGCR6 USP18 GGT3P GSC2 CLDN5 LOC102725072 C22orf29 TSSK2 PRODH DGCR10 LOC642643 LOC100996415 GNB1L MRPL40 DGCR5 PI4KAP1 TXNRD2 LINC00895 COMT C22orf39 LOC729461 MIR4761 CDC45 TBX1 DGCR11 TMEM191B SEPT5-GP1BB SEPT5 DGCR14 LINC01311

More Information

• Set Membership: Intragenic, 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