Hs02048764_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19851725 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	1048	NP_078903.3
	AK024778.1	1	424	BAB14998.1
	AK225088.1	1	424
	AK291262.1	3	1016
	AL832509.1	3	937
	BC011679.2	1	555	AAH11679.2
	BX640785.1	2	1137	CAE45875.1
	BX640969.1	3	1017	CAE45984.1
	BX640998.1	3	1017	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	SEPT5-GP1BB GP1BB GNB1L C22orf29 SEPT5 TBX1 TXNRD2
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	GNB1L C22orf29
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	TANGO2 CDC45 CCDC188 COMT MIR3618 UFD1L GNB1L MIR1306 MIR185 DGCR6L SEPT5 LOC284865 MIR1286 SEPT5-GP1BB CLDN5 GP1BB RANBP1 DGCR8 MIR6816 LINC00895 TRMT2A LINC00896 ZDHHC8 RTN4R LOC440792 C22orf29 MIR4761 LOC101927859 TBX1 TXNRD2 ARVCF
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	TANGO2 CCDC188 COMT MIR3618 GNB1L MIR1306 MIR185 DGCR6L SEPT5 LOC284865 MIR1286 SEPT5-GP1BB GP1BB RANBP1 DGCR8 MIR6816 TRMT2A LINC00896 ZDHHC8 RTN4R LOC440792 C22orf29 MIR4761 TBX1 TXNRD2 ARVCF
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	TANGO2 CCDC188 COMT MIR3618 GNB1L MIR1306 MIR185 DGCR6L SEPT5 LOC284865 MIR1286 SEPT5-GP1BB GP1BB RANBP1 DGCR8 MIR6816 TRMT2A LINC00896 ZDHHC8 RTN4R LOC440792 C22orf29 MIR4761 TBX1 TXNRD2 ARVCF
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	GNB1L C22orf29 TXNRD2
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	GNB1L C22orf29 TBX1 TXNRD2
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	SEPT5-GP1BB GP1BB GNB1L C22orf29 SEPT5 TBX1 TXNRD2
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	DGCR11 DGCR10 TMEM191B PRODH HIRA CDC45 LOC100996415 LOC100996401 COMT DGCR9 LOC102725072 LINC01311 UFD1L USP18 GNB1L FAM230A SEPT5 DGCR14 SEPT5-GP1BB DGCR5 MRPL40 CLDN5 GSC2 CLTCL1 GGT3P GP1BB LOC729461 LOC100996432 LINC00895 LOC642643 SLC25A1 DGCR2 C22orf29 MIR4761 TSSK2 PI4KAP1 DGCR6 RIMBP3 C22orf39 TBX1 TXNRD2
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	TANGO2 RANBP1 CCDC188 DGCR8 COMT MIR3618 MIR6816 TRMT2A LINC00896 ZDHHC8 RTN4R GNB1L LOC440792 MIR1306 MIR185 C22orf29 DGCR6L MIR4761 LOC284865 MIR1286 TBX1 TXNRD2 ARVCF

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