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

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