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

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