Hs04083077_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19795951 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 7

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
	CA425124.1
	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	C22orf29 ZDHHC8 GP1BB RANBP1 DGCR8 LOC101927859 MIR185 LINC00895 RTN4R MIR4761 LINC00896 SEPT5-GP1BB CCDC188 TANGO2 MIR3618 TRMT2A MIR1286 SEPT5 TXNRD2 TBX1 COMT MIR6816 CDC45 UFD1L ARVCF CLDN5 GNB1L DGCR6L MIR1306 LOC284865 LOC440792
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	C22orf29 ZDHHC8 GP1BB RANBP1 DGCR8 MIR185 RTN4R MIR4761 LINC00896 SEPT5-GP1BB CCDC188 TANGO2 MIR3618 TRMT2A MIR1286 SEPT5 TXNRD2 TBX1 COMT MIR6816 ARVCF GNB1L DGCR6L MIR1306 LOC284865 LOC440792
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	C22orf29 GNB1L TXNRD2 TBX1
nsv828943	Chr.22:19720750 - 19797550 on Build GRCh38	Loss	GNB1L GP1BB SEPT5 TBX1 SEPT5-GP1BB
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	C22orf29 GNB1L GP1BB SEPT5 TXNRD2 TBX1 SEPT5-GP1BB
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	TRMT2A C22orf29 MIR1286 ZDHHC8 RANBP1 TXNRD2 DGCR8 TBX1 COMT MIR6816 MIR185 RTN4R ARVCF MIR4761 GNB1L DGCR6L LINC00896 MIR1306 LOC284865 CCDC188 LOC440792 TANGO2 MIR3618
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	GP1BB SEPT5 DGCR14 SLC25A1 TBX1 TSSK2 DGCR2 CDC45 UFD1L LINC00895 MRPL40 CLDN5 GNB1L LINC01311 CLTCL1 SEPT5-GP1BB GSC2 HIRA C22orf39
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	C22orf29 GNB1L GP1BB SEPT5 TXNRD2 TBX1 SEPT5-GP1BB
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	GNB1L GP1BB SEPT5 TBX1 SEPT5-GP1BB
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	C22orf29 ZDHHC8 GP1BB RANBP1 DGCR8 MIR185 RTN4R MIR4761 LINC00896 SEPT5-GP1BB CCDC188 TANGO2 MIR3618 TRMT2A MIR1286 SEPT5 TXNRD2 TBX1 COMT MIR6816 ARVCF GNB1L DGCR6L MIR1306 LOC284865 LOC440792
dgv725n67	Chr.22:19711970 - 19797426 on Build GRCh38	Gain	GNB1L GP1BB SEPT5 TBX1 SEPT5-GP1BB
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	GNB1L TBX1
nsv834128	Chr.22:19634627 - 19803975 on Build GRCh38	Loss	GNB1L GP1BB SEPT5 TBX1 SEPT5-GP1BB
dgv1288e212	Chr.22:19794300 - 19795982 on Build GRCh38	Loss	GNB1L
nsv438325	Chr.22:19784656 - 19808063 on Build GRCh38	Loss	GNB1L
nsv964584	Chr.22:19791729 - 19795952 on Build GRCh38	Duplication	GNB1L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	RIMBP3 DGCR5 C22orf29 GP1BB LOC642643 SLC25A1 TMEM191B LOC102725072 DGCR2 DGCR9 LINC00895 FAM230A MIR4761 LINC01311 LOC729461 DGCR6 SEPT5-GP1BB LOC100996415 DGCR10 PI4KAP1 DGCR11 SEPT5 DGCR14 TXNRD2 TBX1 COMT TSSK2 CDC45 UFD1L LOC100996401 MRPL40 CLDN5 GNB1L CLTCL1 LOC100996432 GSC2 PRODH HIRA C22orf39 GGT3P USP18

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