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

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