Hs04084472_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19805418 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 6

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
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	MIR1306 UFD1L LOC440792 SEPT5-GP1BB MIR4761 LOC284865 CDC45 CLDN5 MIR185 DGCR6L LINC00896 CCDC188 MIR6816 TXNRD2 LINC00895 LOC101927859 GNB1L MIR1286 COMT DGCR8 TRMT2A C22orf29 RTN4R ARVCF GP1BB RANBP1 TBX1 MIR3618 TANGO2 SEPT5 ZDHHC8
esv3568263	Chr.22:19797567 - 19806692 on Build GRCh38	Loss	GNB1L
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR1306 LOC440792 SEPT5-GP1BB MIR4761 LOC284865 MIR185 DGCR6L LINC00896 CCDC188 MIR6816 TXNRD2 GNB1L MIR1286 COMT DGCR8 TRMT2A C22orf29 RTN4R ARVCF GP1BB RANBP1 TBX1 MIR3618 TANGO2 SEPT5 ZDHHC8
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	C22orf29 GNB1L TBX1 TXNRD2
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	C22orf29 GP1BB GNB1L TBX1 SEPT5-GP1BB SEPT5 TXNRD2
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR1306 GNB1L LOC440792 MIR1286 COMT DGCR8 TRMT2A MIR4761 C22orf29 RTN4R LOC284865 ARVCF RANBP1 MIR185 TBX1 MIR3618 DGCR6L TANGO2 ZDHHC8 LINC00896 CCDC188 MIR6816 TXNRD2
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	LINC00895 TSSK2 GNB1L UFD1L LINC01311 HIRA SEPT5-GP1BB DGCR14 GSC2 CDC45 GP1BB CLTCL1 CLDN5 TBX1 DGCR2 MRPL40 SLC25A1 SEPT5 C22orf39
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	C22orf29 GP1BB GNB1L TBX1 SEPT5-GP1BB SEPT5 TXNRD2
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	GP1BB GNB1L TBX1 SEPT5-GP1BB SEPT5
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR1306 LOC440792 SEPT5-GP1BB MIR4761 LOC284865 MIR185 DGCR6L LINC00896 CCDC188 MIR6816 TXNRD2 GNB1L MIR1286 COMT DGCR8 TRMT2A C22orf29 RTN4R ARVCF GP1BB RANBP1 TBX1 MIR3618 TANGO2 SEPT5 ZDHHC8
nsv471181	Chr.22:19729797 - 19815256 on Build GRCh38	Loss	GNB1L TBX1
nsv438325	Chr.22:19784656 - 19808063 on Build GRCh38	Loss	GNB1L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LOC729461 TSSK2 GGT3P UFD1L LINC01311 DGCR10 SEPT5-GP1BB RIMBP3 DGCR14 MIR4761 GSC2 TMEM191B CDC45 CLDN5 C22orf39 TXNRD2 LINC00895 DGCR5 DGCR6 GNB1L PRODH LOC100996415 HIRA COMT PI4KAP1 LOC102725072 LOC100996401 FAM230A DGCR9 C22orf29 GP1BB CLTCL1 TBX1 LOC100996432 DGCR2 LOC642643 MRPL40 DGCR11 SLC25A1 SEPT5 USP18

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