Hs04084472_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19805418 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 6

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
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	ARVCF ZDHHC8 DGCR8 MIR4761 RANBP1 UFD1L LINC00895 COMT RTN4R TBX1 CLDN5 TXNRD2 LOC440792 LINC00896 GNB1L C22orf29 SEPT5-GP1BB MIR185 TANGO2 MIR1286 MIR3618 LOC101927859 LOC284865 MIR6816 DGCR6L MIR1306 TRMT2A CCDC188 CDC45 SEPT5 GP1BB
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	ARVCF ZDHHC8 DGCR8 MIR4761 RANBP1 COMT RTN4R TBX1 TXNRD2 LOC440792 LINC00896 GNB1L C22orf29 SEPT5-GP1BB MIR185 TANGO2 MIR1286 MIR3618 LOC284865 MIR6816 DGCR6L MIR1306 TRMT2A CCDC188 SEPT5 GP1BB
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 SEPT5 TXNRD2 GNB1L C22orf29 SEPT5-GP1BB GP1BB
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	ARVCF MIR1286 ZDHHC8 DGCR8 MIR3618 LOC284865 MIR4761 RANBP1 MIR6816 COMT RTN4R DGCR6L MIR1306 TBX1 TRMT2A CCDC188 TXNRD2 LOC440792 LINC00896 GNB1L C22orf29 MIR185 TANGO2
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	CLTCL1 MRPL40 UFD1L TSSK2 LINC00895 HIRA DGCR2 C22orf39 LINC01311 GSC2 TBX1 CDC45 SEPT5 CLDN5 DGCR14 GNB1L SEPT5-GP1BB GP1BB SLC25A1
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	TBX1 SEPT5 TXNRD2 GNB1L C22orf29 SEPT5-GP1BB GP1BB
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	TBX1 SEPT5 GNB1L SEPT5-GP1BB GP1BB
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	ARVCF ZDHHC8 DGCR8 MIR4761 RANBP1 COMT RTN4R TBX1 TXNRD2 LOC440792 LINC00896 GNB1L C22orf29 SEPT5-GP1BB MIR185 TANGO2 MIR1286 MIR3618 LOC284865 MIR6816 DGCR6L MIR1306 TRMT2A CCDC188 SEPT5 GP1BB
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	TBX1 GNB1L
nsv438325	Chr.22:19784656 - 19808063 on Build GRCh38	Loss	GNB1L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	GGT3P CLTCL1 PI4KAP1 DGCR11 MIR4761 UFD1L TSSK2 LINC00895 C22orf39 COMT PRODH GSC2 TBX1 LOC100996415 CLDN5 DGCR14 TXNRD2 GNB1L FAM230A C22orf29 LOC100996401 SEPT5-GP1BB USP18 DGCR10 SLC25A1 DGCR5 DGCR9 LOC642643 MRPL40 HIRA RIMBP3 LOC102725072 DGCR2 LINC01311 CDC45 SEPT5 LOC729461 DGCR6 TMEM191B LOC100996432 GP1BB

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