Hs04085613_cn

• Gene Symbol: GNB1L
• Assay Reference Genome Location: Chr.22:19804748 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	C22orf29 ZDHHC8 UFD1L SEPT5 LINC00896 MIR3618 MIR185 TANGO2 TBX1 LOC101927859 RANBP1 CLDN5 LINC00895 MIR4761 MIR6816 CCDC188 TXNRD2 LOC440792 DGCR8 SEPT5-GP1BB CDC45 COMT DGCR6L ARVCF MIR1286 RTN4R MIR1306 GNB1L LOC284865 GP1BB TRMT2A
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	C22orf29 ZDHHC8 SEPT5 LINC00896 MIR3618 MIR185 TANGO2 TBX1 RANBP1 MIR4761 MIR6816 CCDC188 TXNRD2 LOC440792 DGCR8 SEPT5-GP1BB COMT DGCR6L ARVCF MIR1286 RTN4R MIR1306 GNB1L LOC284865 GP1BB TRMT2A
esv3568263	Chr.22:19797567 - 19806692 on Build GRCh38	Loss	GNB1L
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	C22orf29 GNB1L TBX1 TXNRD2
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	C22orf29 GNB1L GP1BB TBX1 TXNRD2 SEPT5 SEPT5-GP1BB
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	C22orf29 MIR4761 MIR6816 ZDHHC8 CCDC188 TXNRD2 LOC440792 DGCR8 LINC00896 COMT DGCR6L ARVCF MIR3618 MIR185 TANGO2 MIR1286 RTN4R MIR1306 GNB1L LOC284865 TBX1 RANBP1 TRMT2A
nsv588216	Chr.22:19086099 - 19839117 on Build GRCh38	Gain	SLC25A1 UFD1L SEPT5 DGCR14 C22orf39 SEPT5-GP1BB CDC45 LINC01311 CLTCL1 MRPL40 HIRA GNB1L GP1BB TBX1 DGCR2 GSC2 TSSK2 CLDN5 LINC00895
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	C22orf29 GNB1L GP1BB TBX1 TXNRD2 SEPT5 SEPT5-GP1BB
nsv517478	Chr.22:19703979 - 19817740 on Build GRCh38	Loss	GNB1L GP1BB TBX1 SEPT5 SEPT5-GP1BB
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	C22orf29 ZDHHC8 SEPT5 LINC00896 MIR3618 MIR185 TANGO2 TBX1 RANBP1 MIR4761 MIR6816 CCDC188 TXNRD2 LOC440792 DGCR8 SEPT5-GP1BB COMT DGCR6L ARVCF MIR1286 RTN4R MIR1306 GNB1L LOC284865 GP1BB TRMT2A
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	C22orf29 DGCR9 LOC100996401 LOC100996415 SLC25A1 UFD1L SEPT5 CLTCL1 GGT3P USP18 HIRA TBX1 DGCR2 PRODH LOC100996432 GSC2 CLDN5 LINC00895 MIR4761 DGCR5 TXNRD2 LOC642643 FAM230A DGCR14 C22orf39 SEPT5-GP1BB CDC45 RIMBP3 COMT DGCR6 PI4KAP1 LINC01311 DGCR10 MRPL40 LOC729461 GNB1L GP1BB TMEM191B LOC102725072 DGCR11 TSSK2

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