Hs02782508_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19802140 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 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNB1L	NM_053004.2	7	830	NP_443730.1
	AB051432.1	7	771
	AF238328.1			AAG36826.1
	AF301895.1	7	795	AAG53933.1
	AY007378.1	7	830	AAG12162.1
	BC012060.1	7	731	AAH12060.1
	CA425124.1
	CR456496.1	5	627	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	TBX1 TXNRD2 TANGO2 MIR3618 C22orf29 ARVCF LOC284865 RANBP1 CCDC188 MIR185 CDC45 RTN4R LINC00895 UFD1L MIR1286 DGCR6L MIR1306 LOC101927859 COMT ZDHHC8 DGCR8 TRMT2A SEPT5 LINC00896 SEPT5-GP1BB CLDN5 MIR4761 MIR6816 GNB1L GP1BB LOC440792
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	TBX1 TXNRD2 TANGO2 MIR3618 C22orf29 ARVCF LOC284865 RANBP1 CCDC188 MIR185 RTN4R MIR1286 DGCR6L MIR1306 COMT ZDHHC8 DGCR8 TRMT2A SEPT5 LINC00896 SEPT5-GP1BB MIR4761 MIR6816 GNB1L GP1BB LOC440792
esv3568263	Chr.22:19797567 - 19806692 on Build GRCh38	Loss	GNB1L
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TBX1 TXNRD2 GNB1L C22orf29
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TBX1 TXNRD2 GNB1L SEPT5 SEPT5-GP1BB GP1BB C22orf29
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	TBX1 COMT TXNRD2 ZDHHC8 DGCR8 TRMT2A TANGO2 MIR3618 LINC00896 C22orf29 ARVCF LOC284865 MIR4761 RANBP1 MIR6816 CCDC188 MIR185 GNB1L RTN4R MIR1286 DGCR6L LOC440792 MIR1306
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	TBX1 SLC25A1 DGCR14 GSC2 SEPT5 SEPT5-GP1BB LINC01311 CLTCL1 DGCR2 CLDN5 HIRA C22orf39 CDC45 TSSK2 GNB1L LINC00895 UFD1L GP1BB MRPL40
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	TBX1 TXNRD2 GNB1L SEPT5 SEPT5-GP1BB GP1BB C22orf29
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	TBX1 GNB1L SEPT5 SEPT5-GP1BB GP1BB
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	TBX1 TXNRD2 TANGO2 MIR3618 C22orf29 ARVCF LOC284865 RANBP1 CCDC188 MIR185 RTN4R MIR1286 DGCR6L MIR1306 COMT ZDHHC8 DGCR8 TRMT2A SEPT5 LINC00896 SEPT5-GP1BB MIR4761 MIR6816 GNB1L GP1BB LOC440792
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	TBX1 GNB1L
nsv834128	Chr.22:19634627 - 19803975 on Build GRCh38	Loss	TBX1 GNB1L SEPT5 SEPT5-GP1BB GP1BB
nsv438325	Chr.22:19784656 - 19808063 on Build GRCh38	Loss	GNB1L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	TBX1 SLC25A1 TXNRD2 LOC642643 DGCR14 GSC2 CLTCL1 C22orf29 DGCR2 DGCR6 DGCR10 RIMBP3 CDC45 TSSK2 LINC00895 UFD1L MRPL40 LOC729461 LOC102725072 COMT LOC100996415 SEPT5 SEPT5-GP1BB LINC01311 DGCR9 CLDN5 HIRA TMEM191B PI4KAP1 MIR4761 C22orf39 USP18 LOC100996401 GGT3P GNB1L FAM230A LOC100996432 GP1BB DGCR11 PRODH DGCR5

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