Hs01999880_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19806758 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: Overlaps Intron 5 - Exon 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
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	TXNRD2 C22orf29 TBX1 SEPT5 GP1BB SEPT5-GP1BB GNB1L
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	TBX1 SEPT5 GP1BB SEPT5-GP1BB GNB1L
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	LOC440792 UFD1L TXNRD2 LOC284865 LINC00895 TBX1 LINC00896 DGCR6L MIR6816 MIR1286 TRMT2A MIR4761 LOC101927859 MIR1306 COMT TANGO2 C22orf29 CLDN5 MIR3618 GP1BB ZDHHC8 SEPT5-GP1BB DGCR8 CCDC188 SEPT5 RANBP1 CDC45 RTN4R ARVCF MIR185 GNB1L
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	LOC440792 TXNRD2 LOC284865 TBX1 LINC00896 DGCR6L MIR6816 MIR1286 TRMT2A MIR4761 MIR1306 COMT TANGO2 C22orf29 MIR3618 GP1BB ZDHHC8 SEPT5-GP1BB DGCR8 CCDC188 SEPT5 RANBP1 RTN4R ARVCF MIR185 GNB1L
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	LOC440792 TXNRD2 LOC284865 TBX1 LINC00896 DGCR6L MIR6816 MIR1286 TRMT2A MIR4761 MIR1306 COMT TANGO2 C22orf29 MIR3618 GP1BB ZDHHC8 SEPT5-GP1BB DGCR8 CCDC188 SEPT5 RANBP1 RTN4R ARVCF MIR185 GNB1L
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	TBX1 GNB1L
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TXNRD2 C22orf29 TBX1 GNB1L
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TXNRD2 C22orf29 TBX1 SEPT5 GP1BB SEPT5-GP1BB GNB1L
nsv438325	Chr.22:19784656 - 19808063 on Build GRCh38	Loss	GNB1L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	UFD1L TXNRD2 DGCR14 LINC00895 TBX1 MRPL40 LOC642643 LOC102725072 C22orf39 MIR4761 TSSK2 PRODH DGCR10 CLTCL1 DGCR11 GSC2 COMT GGT3P DGCR2 LOC100996432 HIRA C22orf29 CLDN5 GP1BB SLC25A1 PI4KAP1 SEPT5-GP1BB RIMBP3 DGCR6 USP18 LOC100996401 DGCR5 FAM230A SEPT5 TMEM191B LINC01311 DGCR9 CDC45 GNB1L LOC729461 LOC100996415
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	LOC440792 TXNRD2 LOC284865 C22orf29 TBX1 LINC00896 DGCR6L MIR3618 MIR6816 MIR1286 TRMT2A ZDHHC8 MIR4761 DGCR8 CCDC188 MIR1306 RANBP1 COMT RTN4R TANGO2 ARVCF MIR185 GNB1L
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	UFD1L HIRA DGCR14 LINC00895 TBX1 MRPL40 CLDN5 GP1BB C22orf39 SLC25A1 SEPT5-GP1BB TSSK2 SEPT5 CLTCL1 LINC01311 GSC2 CDC45 GNB1L DGCR2

More Information

• Set Membership: Intragenic, 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