Hs02061925_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19812369 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 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNB1L	NM_053004.2	5	570	NP_443730.1
	AB051432.1	5	511
	AF238328.1	5	570	AAG36826.1
	AF301895.1	5	535	AAG53933.1
	AY007378.1	5	570	AAG12162.1
	BC012060.1	5	471	AAH12060.1
	CR456496.1	3	367	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	C22orf29 TBX1 GNB1L GP1BB SEPT5-GP1BB TXNRD2 SEPT5
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	TBX1 GNB1L GP1BB SEPT5-GP1BB SEPT5
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	UFD1L LOC284865 MIR1306 MIR185 MIR4761 RANBP1 SEPT5 LINC00895 RTN4R DGCR6L ZDHHC8 COMT CDC45 MIR1286 LINC00896 TBX1 CCDC188 GP1BB TRMT2A CLDN5 MIR3618 TXNRD2 DGCR8 C22orf29 LOC440792 TANGO2 GNB1L SEPT5-GP1BB MIR6816 ARVCF LOC101927859
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	LOC284865 MIR1306 MIR185 MIR4761 RANBP1 SEPT5 RTN4R DGCR6L ZDHHC8 COMT MIR1286 LINC00896 TBX1 CCDC188 GP1BB TRMT2A MIR3618 TXNRD2 DGCR8 C22orf29 LOC440792 TANGO2 GNB1L SEPT5-GP1BB MIR6816 ARVCF
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	LOC284865 MIR1306 MIR185 MIR4761 RANBP1 SEPT5 RTN4R DGCR6L ZDHHC8 COMT MIR1286 LINC00896 TBX1 CCDC188 GP1BB TRMT2A MIR3618 TXNRD2 DGCR8 C22orf29 LOC440792 TANGO2 GNB1L SEPT5-GP1BB MIR6816 ARVCF
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	TBX1 GNB1L
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	C22orf29 TBX1 GNB1L TXNRD2
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	C22orf29 TBX1 GNB1L GP1BB SEPT5-GP1BB TXNRD2 SEPT5
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	UFD1L DGCR6 PI4KAP1 DGCR5 C22orf39 LOC102725072 DGCR9 LOC642643 MIR4761 LOC100996401 SEPT5 DGCR11 DGCR2 LINC00895 CLTCL1 COMT LINC01311 CDC45 USP18 LOC100996415 FAM230A TBX1 TSSK2 HIRA DGCR10 GP1BB DGCR14 LOC100996432 CLDN5 TXNRD2 RIMBP3 C22orf29 GGT3P PRODH GNB1L LOC729461 MRPL40 SLC25A1 SEPT5-GP1BB GSC2 TMEM191B
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	LINC00896 TBX1 CCDC188 LOC284865 TRMT2A MIR1306 MIR3618 MIR185 TXNRD2 DGCR8 MIR4761 RANBP1 C22orf29 LOC440792 RTN4R TANGO2 DGCR6L ZDHHC8 GNB1L COMT MIR6816 ARVCF MIR1286
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	UFD1L C22orf39 TBX1 TSSK2 HIRA GP1BB DGCR14 CLDN5 SEPT5 DGCR2 LINC00895 CLTCL1 GNB1L MRPL40 LINC01311 SLC25A1 CDC45 SEPT5-GP1BB GSC2

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