Hs04506705_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19797170 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 Intron 7

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

More Information

• Set Membership: Intragenic, Intronic, 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