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

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