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

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