Hs01622004_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19788540 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 Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNB1L	NM_053004.2	8	1390	NP_443730.1
	AB051432.1	8	1331
	AF238328.1	8	954	AAG36826.1
	AF301895.1	8	1355	AAG53933.1
	AY007378.1	8	1390	AAG12162.1
	BC012060.1	8	1291	AAH12060.1
	BF510806.1	1	141
	CA425124.1	1	148
	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	CLDN5 MIR6816 ARVCF COMT SEPT5-GP1BB LINC00896 ZDHHC8 DGCR8 MIR4761 RTN4R MIR185 TBX1 UFD1L LOC101927859 LOC284865 CCDC188 DGCR6L MIR1306 GP1BB LINC00895 MIR1286 CDC45 TANGO2 TXNRD2 RANBP1 TRMT2A GNB1L LOC440792 SEPT5 C22orf29 MIR3618
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR6816 ARVCF COMT SEPT5-GP1BB LINC00896 ZDHHC8 DGCR8 MIR4761 RTN4R MIR185 TBX1 LOC284865 CCDC188 DGCR6L MIR1306 GP1BB MIR1286 TANGO2 TXNRD2 RANBP1 TRMT2A GNB1L LOC440792 SEPT5 C22orf29 MIR3618
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TBX1 TXNRD2 GNB1L C22orf29
nsv828943	Chr.22:19720750 - 19797550 on Build GRCh38	Loss	TBX1 GP1BB SEPT5-GP1BB GNB1L SEPT5
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TBX1 GP1BB TXNRD2 SEPT5-GP1BB GNB1L SEPT5 C22orf29
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR1306 MIR6816 ARVCF COMT LINC00896 MIR1286 ZDHHC8 DGCR8 MIR4761 RTN4R MIR185 TBX1 LOC284865 TANGO2 TXNRD2 RANBP1 TRMT2A GNB1L CCDC188 LOC440792 C22orf29 DGCR6L MIR3618
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	CLDN5 GP1BB GSC2 LINC00895 SEPT5-GP1BB DGCR14 TBX1 CDC45 UFD1L C22orf39 CLTCL1 HIRA LINC01311 DGCR2 GNB1L TSSK2 MRPL40 SLC25A1 SEPT5
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	TBX1 GP1BB TXNRD2 SEPT5-GP1BB GNB1L SEPT5 C22orf29
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	TBX1 GP1BB SEPT5-GP1BB GNB1L SEPT5
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR6816 ARVCF COMT SEPT5-GP1BB LINC00896 ZDHHC8 DGCR8 MIR4761 RTN4R MIR185 TBX1 LOC284865 CCDC188 DGCR6L MIR1306 GP1BB MIR1286 TANGO2 TXNRD2 RANBP1 TRMT2A GNB1L LOC440792 SEPT5 C22orf29 MIR3618
dgv725n67	Chr.22:19711970 - 19797426 on Build GRCh38	Gain	TBX1 GP1BB SEPT5-GP1BB GNB1L SEPT5
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	TBX1 GNB1L
nsv834128	Chr.22:19634627 - 19803975 on Build GRCh38	Loss	TBX1 GP1BB SEPT5-GP1BB GNB1L SEPT5
nsv438325	Chr.22:19784656 - 19808063 on Build GRCh38	Loss	GNB1L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	CLDN5 FAM230A COMT GSC2 DGCR5 SEPT5-GP1BB DGCR14 DGCR9 MIR4761 RIMBP3 LOC100996401 TBX1 PI4KAP1 LOC102725072 UFD1L LOC642643 CLTCL1 GGT3P HIRA LINC01311 DGCR2 TSSK2 MRPL40 SLC25A1 USP18 PRODH DGCR11 GP1BB DGCR6 LINC00895 DGCR10 LOC729461 LOC100996415 CDC45 C22orf39 TXNRD2 GNB1L TMEM191B SEPT5 C22orf29 LOC100996432

More Information

• Set Membership: Intragenic, 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