Hs04085609_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19808411 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 5

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

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