Hs00517269_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19849252 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	3521	NP_078903.3
	BX640785.1	2	3610	CAE45875.1
	BX640969.1	3	3490	CAE45984.1
	BX640998.1	3	3490	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
nsv828949	Chr.22:19849159 - 19849738 on Build GRCh38	Gain	GNB1L C22orf29
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	TXNRD2 GNB1L SEPT5-GP1BB TBX1 GP1BB C22orf29 SEPT5
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	GNB1L C22orf29
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	GNB1L GP1BB CDC45 TANGO2 RTN4R DGCR6L C22orf29 SEPT5 LOC101927859 CCDC188 TXNRD2 MIR4761 MIR1306 UFD1L LINC00896 RANBP1 MIR185 ZDHHC8 MIR6816 SEPT5-GP1BB TBX1 LINC00895 CLDN5 LOC284865 MIR3618 LOC440792 DGCR8 ARVCF MIR1286 COMT TRMT2A
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	GNB1L GP1BB TANGO2 RTN4R DGCR6L C22orf29 SEPT5 CCDC188 TXNRD2 MIR4761 MIR1306 LINC00896 RANBP1 MIR185 ZDHHC8 MIR6816 SEPT5-GP1BB TBX1 LOC284865 MIR3618 LOC440792 DGCR8 ARVCF MIR1286 COMT TRMT2A
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	GNB1L GP1BB TANGO2 RTN4R DGCR6L C22orf29 SEPT5 CCDC188 TXNRD2 MIR4761 MIR1306 LINC00896 RANBP1 MIR185 ZDHHC8 MIR6816 SEPT5-GP1BB TBX1 LOC284865 MIR3618 LOC440792 DGCR8 ARVCF MIR1286 COMT TRMT2A
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	TXNRD2 GNB1L C22orf29
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TXNRD2 GNB1L TBX1 C22orf29
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TXNRD2 GNB1L SEPT5-GP1BB TBX1 GP1BB C22orf29 SEPT5
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR185 GNB1L ZDHHC8 MIR6816 TBX1 LOC284865 TANGO2 MIR3618 RTN4R LOC440792 DGCR6L C22orf29 CCDC188 TXNRD2 DGCR8 MIR4761 ARVCF MIR1306 MIR1286 COMT TRMT2A LINC00896 RANBP1
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	GNB1L LOC100996415 DGCR5 GP1BB CDC45 C22orf29 PRODH SEPT5 TXNRD2 DGCR6 MIR4761 LINC01311 LOC729461 SLC25A1 LOC100996401 GSC2 DGCR10 UFD1L LOC102725072 LOC642643 LOC100996432 FAM230A DGCR2 MRPL40 SEPT5-GP1BB TBX1 GGT3P LINC00895 DGCR9 CLDN5 TSSK2 TMEM191B C22orf39 CLTCL1 DGCR11 HIRA PI4KAP1 DGCR14 USP18 RIMBP3 COMT

More Information

Additional Information:

For this assay, SNP(s) [rs68172222] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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