Hs04085609_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19808411 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 5

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
	CR456496.1			CAG30382.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	SEPT5-GP1BB TXNRD2 GP1BB C22orf29 GNB1L TBX1 SEPT5
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	SEPT5-GP1BB GP1BB GNB1L TBX1 SEPT5
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	LOC101927859 SEPT5-GP1BB RTN4R ARVCF LOC284865 MIR1306 GNB1L CCDC188 ZDHHC8 LINC00896 DGCR6L SEPT5 TXNRD2 DGCR8 CLDN5 CDC45 TBX1 MIR6816 RANBP1 GP1BB MIR3618 TANGO2 MIR4761 MIR1286 LOC440792 UFD1L COMT C22orf29 TRMT2A LINC00895 MIR185
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	SEPT5-GP1BB RTN4R ARVCF LOC284865 MIR1306 GNB1L CCDC188 ZDHHC8 LINC00896 DGCR6L SEPT5 TXNRD2 DGCR8 TBX1 MIR6816 RANBP1 GP1BB MIR3618 TANGO2 MIR4761 MIR1286 LOC440792 COMT C22orf29 TRMT2A MIR185
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	SEPT5-GP1BB RTN4R ARVCF LOC284865 MIR1306 GNB1L CCDC188 ZDHHC8 LINC00896 DGCR6L SEPT5 TXNRD2 DGCR8 TBX1 MIR6816 RANBP1 GP1BB MIR3618 TANGO2 MIR4761 MIR1286 LOC440792 COMT C22orf29 TRMT2A MIR185
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	GNB1L TBX1
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TXNRD2 C22orf29 GNB1L TBX1
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	SEPT5-GP1BB TXNRD2 GP1BB C22orf29 GNB1L TBX1 SEPT5
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	RTN4R RANBP1 ARVCF LOC284865 MIR1306 MIR3618 TANGO2 GNB1L CCDC188 MIR4761 MIR1286 LOC440792 ZDHHC8 LINC00896 COMT DGCR6L TXNRD2 C22orf29 DGCR8 TRMT2A TBX1 MIR6816 MIR185
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	SEPT5-GP1BB DGCR6 LINC01311 C22orf39 RIMBP3 GNB1L DGCR2 LOC102725072 SEPT5 USP18 TXNRD2 LOC729461 CLDN5 LOC100996401 PI4KAP1 DGCR5 CDC45 TSSK2 TBX1 MRPL40 DGCR10 FAM230A GP1BB PRODH SLC25A1 MIR4761 DGCR9 UFD1L DGCR11 COMT LOC100996432 GSC2 TMEM191B HIRA C22orf29 DGCR14 CLTCL1 GGT3P LOC642643 LINC00895 LOC100996415
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	SEPT5-GP1BB LINC01311 GP1BB C22orf39 GNB1L SLC25A1 DGCR2 UFD1L SEPT5 GSC2 HIRA DGCR14 CLDN5 CDC45 CLTCL1 TSSK2 LINC00895 TBX1 MRPL40

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