Hs00368148_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19788867 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	1063	NP_443730.1
	AB051432.1	8	1004
	AF238328.1			AAG36826.1
	AF301895.1	8	1028	AAG53933.1
	AY007378.1	8	1063	AAG12162.1
	BC012060.1	8	964	AAH12060.1
	CA425124.1	1	475
	CR456496.1	6	860	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	LOC440792 CLDN5 MIR1286 MIR3618 UFD1L COMT CDC45 ARVCF TRMT2A LOC101927859 MIR185 RANBP1 SEPT5-GP1BB DGCR8 DGCR6L GP1BB LINC00895 MIR6816 ZDHHC8 MIR1306 TBX1 TANGO2 LINC00896 CCDC188 TXNRD2 GNB1L C22orf29 SEPT5 LOC284865 MIR4761 RTN4R
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	LOC440792 MIR1286 MIR3618 COMT ARVCF TRMT2A MIR185 RANBP1 SEPT5-GP1BB DGCR8 DGCR6L GP1BB MIR6816 ZDHHC8 MIR1306 TBX1 TANGO2 LINC00896 CCDC188 TXNRD2 GNB1L C22orf29 SEPT5 LOC284865 MIR4761 RTN4R
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TXNRD2 GNB1L C22orf29 TBX1
nsv828943	Chr.22:19720750 - 19797550 on Build GRCh38	Loss	GNB1L SEPT5 SEPT5-GP1BB GP1BB TBX1
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TXNRD2 GNB1L C22orf29 SEPT5 SEPT5-GP1BB GP1BB TBX1
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR6816 LOC440792 ZDHHC8 MIR1306 MIR1286 MIR3618 COMT ARVCF TRMT2A TBX1 TANGO2 LINC00896 CCDC188 TXNRD2 GNB1L C22orf29 MIR185 RANBP1 DGCR8 DGCR6L LOC284865 MIR4761 RTN4R
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	SLC25A1 CLDN5 UFD1L DGCR14 MRPL40 CLTCL1 CDC45 TBX1 LINC01311 GNB1L C22orf39 SEPT5 SEPT5-GP1BB GSC2 HIRA GP1BB DGCR2 TSSK2 LINC00895
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	TXNRD2 GNB1L C22orf29 SEPT5 SEPT5-GP1BB GP1BB TBX1
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	GNB1L SEPT5 SEPT5-GP1BB GP1BB TBX1
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	LOC440792 MIR1286 MIR3618 COMT ARVCF TRMT2A MIR185 RANBP1 SEPT5-GP1BB DGCR8 DGCR6L GP1BB MIR6816 ZDHHC8 MIR1306 TBX1 TANGO2 LINC00896 CCDC188 TXNRD2 GNB1L C22orf29 SEPT5 LOC284865 MIR4761 RTN4R
dgv725n67	Chr.22:19711970 - 19797426 on Build GRCh38	Gain	GNB1L SEPT5 SEPT5-GP1BB GP1BB TBX1
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	GNB1L TBX1
nsv834128	Chr.22:19634627 - 19803975 on Build GRCh38	Loss	GNB1L SEPT5 SEPT5-GP1BB GP1BB TBX1
nsv438325	Chr.22:19784656 - 19808063 on Build GRCh38	Loss	GNB1L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	DGCR11 USP18 DGCR10 CLDN5 UFD1L DGCR14 COMT CDC45 LOC642643 LINC01311 TMEM191B SEPT5-GP1BB HIRA DGCR9 GP1BB DGCR2 PI4KAP1 TSSK2 LINC00895 LOC100996432 LOC100996401 SLC25A1 PRODH MRPL40 CLTCL1 LOC729461 TBX1 TXNRD2 GNB1L C22orf29 C22orf39 DGCR5 SEPT5 GSC2 RIMBP3 LOC100996415 FAM230A MIR4761 LOC102725072 GGT3P DGCR6

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