Hs02409619_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19846315 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 79680
• Gene Name: chromosome 22 open reading frame 29
• Gene Aliases: BOP
• Location: Chr.22:19846138-19854848 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C22orf29	NM_024627.5	3	6458	NP_078903.3
	AK026924.1	1	2405
	BX640969.1	3	6427	CAE45984.1
	BX640998.1	3	6427	CAE46001.1

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 2

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

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 GP1BB SEPT5-GP1BB TBX1 SEPT5 TXNRD2 GNB1L
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	C22orf29 GNB1L
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	CLDN5 MIR1286 MIR185 RANBP1 SEPT5-GP1BB SEPT5 TXNRD2 RTN4R GNB1L UFD1L MIR6816 CDC45 CCDC188 LINC00895 ARVCF MIR1306 MIR4761 GP1BB DGCR6L TBX1 LOC440792 LOC284865 LINC00896 MIR3618 C22orf29 COMT DGCR8 TANGO2 ZDHHC8 TRMT2A LOC101927859
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR1286 MIR185 RANBP1 SEPT5-GP1BB SEPT5 TXNRD2 RTN4R GNB1L MIR6816 CCDC188 ARVCF MIR1306 MIR4761 GP1BB DGCR6L TBX1 LOC440792 LOC284865 LINC00896 MIR3618 C22orf29 COMT DGCR8 TANGO2 ZDHHC8 TRMT2A
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR1286 MIR185 RANBP1 SEPT5-GP1BB SEPT5 TXNRD2 RTN4R GNB1L MIR6816 CCDC188 ARVCF MIR1306 MIR4761 GP1BB DGCR6L TBX1 LOC440792 LOC284865 LINC00896 MIR3618 C22orf29 COMT DGCR8 TANGO2 ZDHHC8 TRMT2A
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	C22orf29 TXNRD2 GNB1L
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	C22orf29 TBX1 TXNRD2 GNB1L
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	C22orf29 GP1BB SEPT5-GP1BB TBX1 SEPT5 TXNRD2 GNB1L
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR1286 DGCR6L MIR185 RANBP1 TBX1 LOC440792 LOC284865 TXNRD2 LINC00896 RTN4R GNB1L MIR6816 MIR3618 CCDC188 C22orf29 ARVCF COMT DGCR8 MIR1306 MIR4761 TANGO2 ZDHHC8 TRMT2A
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	CLDN5 GSC2 SEPT5-GP1BB LOC100996415 DGCR11 SEPT5 DGCR14 TXNRD2 C22orf39 GNB1L UFD1L HIRA DGCR5 CDC45 LINC00895 CLTCL1 TSSK2 MIR4761 MRPL40 PRODH LOC100996401 DGCR10 LOC642643 GGT3P PI4KAP1 GP1BB DGCR9 LINC01311 FAM230A USP18 DGCR2 TBX1 TMEM191B RIMBP3 DGCR6 C22orf29 SLC25A1 LOC102725072 COMT LOC729461 LOC100996432

More Information

• Set Membership: Intragenic, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

regulation of mitochondrial membrane potential
mitochondrial outer membrane permeabilization
G-protein coupled receptor signaling pathway
social behavior
intracellular signal transduction

Function(s)

protein binding
molecular_function