Hs04079916_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19806178 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	MIR3618 SEPT5-GP1BB CDC45 MIR4761 CLDN5 DGCR6L ARVCF DGCR8 LOC440792 MIR1286 MIR6816 MIR1306 LOC101927859 SEPT5 TBX1 RANBP1 C22orf29 LINC00895 COMT GNB1L UFD1L LOC284865 TXNRD2 TRMT2A RTN4R TANGO2 MIR185 LINC00896 CCDC188 ZDHHC8 GP1BB
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR3618 SEPT5-GP1BB MIR4761 DGCR6L ARVCF DGCR8 LOC440792 MIR1286 MIR6816 MIR1306 SEPT5 TBX1 RANBP1 C22orf29 COMT GNB1L LOC284865 TXNRD2 TRMT2A RTN4R TANGO2 MIR185 LINC00896 CCDC188 ZDHHC8 GP1BB
esv3568263	Chr.22:19797567 - 19806692 on Build GRCh38	Loss	GNB1L
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TBX1 C22orf29 GNB1L TXNRD2
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TBX1 SEPT5-GP1BB C22orf29 GNB1L GP1BB SEPT5 TXNRD2
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	TBX1 MIR3618 RANBP1 MIR4761 C22orf29 DGCR6L COMT ARVCF GNB1L LOC284865 TXNRD2 TRMT2A RTN4R DGCR8 LOC440792 TANGO2 MIR185 LINC00896 MIR1286 MIR6816 CCDC188 ZDHHC8 MIR1306
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	TBX1 SEPT5-GP1BB SLC25A1 CDC45 LINC00895 CLDN5 C22orf39 LINC01311 CLTCL1 TSSK2 GNB1L UFD1L HIRA GSC2 DGCR14 MRPL40 DGCR2 GP1BB SEPT5
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	TBX1 SEPT5-GP1BB C22orf29 GNB1L GP1BB SEPT5 TXNRD2
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	TBX1 SEPT5-GP1BB GNB1L GP1BB SEPT5
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR3618 SEPT5-GP1BB MIR4761 DGCR6L ARVCF DGCR8 LOC440792 MIR1286 MIR6816 MIR1306 SEPT5 TBX1 RANBP1 C22orf29 COMT GNB1L LOC284865 TXNRD2 TRMT2A RTN4R TANGO2 MIR185 LINC00896 CCDC188 ZDHHC8 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	DGCR9 SEPT5-GP1BB LOC100996401 CDC45 MIR4761 CLDN5 C22orf39 LINC01311 CLTCL1 TSSK2 FAM230A DGCR5 DGCR11 DGCR14 SEPT5 TBX1 LOC642643 SLC25A1 C22orf29 LINC00895 LOC729461 COMT LOC102725072 DGCR10 GNB1L UFD1L TXNRD2 PRODH PI4KAP1 LOC100996415 GGT3P USP18 HIRA DGCR6 LOC100996432 GSC2 MRPL40 RIMBP3 DGCR2 TMEM191B 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