Hs04086722_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19810797 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	SEPT5-GP1BB SEPT5 C22orf29 GNB1L GP1BB TBX1 TXNRD2
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	SEPT5-GP1BB SEPT5 GNB1L GP1BB TBX1
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	CDC45 CCDC188 MIR185 RTN4R MIR4761 GP1BB LOC101927859 ARVCF COMT TANGO2 LOC440792 DGCR8 C22orf29 GNB1L LOC284865 RANBP1 UFD1L MIR1286 SEPT5-GP1BB LINC00896 SEPT5 MIR1306 TXNRD2 TRMT2A DGCR6L MIR3618 MIR6816 CLDN5 TBX1 ZDHHC8 LINC00895
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	CCDC188 MIR185 RTN4R MIR4761 GP1BB ARVCF COMT TANGO2 LOC440792 DGCR8 C22orf29 GNB1L LOC284865 RANBP1 MIR1286 SEPT5-GP1BB LINC00896 SEPT5 MIR1306 TXNRD2 TRMT2A DGCR6L MIR3618 MIR6816 TBX1 ZDHHC8
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	CCDC188 MIR185 RTN4R MIR4761 GP1BB ARVCF COMT TANGO2 LOC440792 DGCR8 C22orf29 GNB1L LOC284865 RANBP1 MIR1286 SEPT5-GP1BB LINC00896 SEPT5 MIR1306 TXNRD2 TRMT2A DGCR6L MIR3618 MIR6816 TBX1 ZDHHC8
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	GNB1L TBX1
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	C22orf29 GNB1L TBX1 TXNRD2
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	SEPT5-GP1BB SEPT5 C22orf29 GNB1L GP1BB TBX1 TXNRD2
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	DGCR5 DGCR10 LOC100996415 CDC45 RIMBP3 MIR4761 SLC25A1 GP1BB FAM230A COMT LOC102725072 TMEM191B C22orf29 LOC642643 DGCR9 GNB1L UFD1L CLTCL1 SEPT5-GP1BB DGCR6 LOC100996432 TSSK2 GSC2 SEPT5 HIRA DGCR2 TXNRD2 DGCR11 LINC01311 PI4KAP1 CLDN5 MRPL40 GGT3P LOC729461 TBX1 LOC100996401 DGCR14 LINC00895 PRODH USP18 C22orf39
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	LINC00896 CCDC188 MIR185 RTN4R MIR4761 MIR1306 ARVCF COMT TANGO2 TXNRD2 TRMT2A DGCR6L MIR3618 LOC440792 MIR6816 DGCR8 C22orf29 GNB1L LOC284865 RANBP1 TBX1 ZDHHC8 MIR1286
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	SEPT5-GP1BB CDC45 TSSK2 GSC2 SEPT5 SLC25A1 HIRA GP1BB DGCR2 LINC01311 CLDN5 MRPL40 GNB1L TBX1 UFD1L DGCR14 LINC00895 CLTCL1 C22orf39

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