Hs00607535_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19850156 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	2617	NP_078903.3
	AL832509.1	3	2506
	BX640785.1	2	2706	CAE45875.1
	BX640969.1	3	2586	CAE45984.1
	BX640998.1	3	2586	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	TBX1 GNB1L C22orf29 SEPT5-GP1BB SEPT5 GP1BB TXNRD2
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	GNB1L C22orf29
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	TANGO2 TBX1 LOC284865 LINC00896 LOC440792 MIR4761 RANBP1 ZDHHC8 SEPT5-GP1BB MIR185 MIR3618 DGCR6L SEPT5 MIR1306 LINC00895 RTN4R GP1BB CCDC188 MIR6816 TRMT2A MIR1286 UFD1L CLDN5 GNB1L ARVCF COMT C22orf29 LOC101927859 DGCR8 CDC45 TXNRD2
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	TANGO2 TBX1 LOC284865 LINC00896 LOC440792 MIR4761 RANBP1 ZDHHC8 SEPT5-GP1BB MIR185 MIR3618 DGCR6L SEPT5 MIR1306 RTN4R GP1BB CCDC188 MIR6816 TRMT2A MIR1286 GNB1L ARVCF COMT C22orf29 DGCR8 TXNRD2
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	TANGO2 TBX1 LOC284865 LINC00896 LOC440792 MIR4761 RANBP1 ZDHHC8 SEPT5-GP1BB MIR185 MIR3618 DGCR6L SEPT5 MIR1306 RTN4R GP1BB CCDC188 MIR6816 TRMT2A MIR1286 GNB1L ARVCF COMT C22orf29 DGCR8 TXNRD2
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	GNB1L C22orf29 TXNRD2
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TBX1 GNB1L C22orf29 TXNRD2
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TBX1 GNB1L C22orf29 SEPT5-GP1BB SEPT5 GP1BB TXNRD2
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	CCDC188 TANGO2 TBX1 LOC284865 MIR6816 TRMT2A LINC00896 LOC440792 MIR1286 MIR4761 GNB1L ARVCF RANBP1 COMT C22orf29 ZDHHC8 MIR185 MIR3618 DGCR6L DGCR8 MIR1306 RTN4R TXNRD2
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	PRODH TBX1 DGCR14 GSC2 TMEM191B C22orf39 LOC100996415 USP18 MIR4761 TSSK2 LOC102725072 SEPT5-GP1BB SEPT5 DGCR5 DGCR11 LINC00895 GP1BB FAM230A LOC100996401 CLTCL1 LOC100996432 MRPL40 DGCR10 DGCR2 DGCR9 HIRA UFD1L CLDN5 GNB1L LOC642643 GGT3P SLC25A1 COMT C22orf29 PI4KAP1 DGCR6 RIMBP3 CDC45 LINC01311 TXNRD2 LOC729461

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