Hs02207236_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19850687 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	2086	NP_078903.3
	AK024778.1	1	1462	BAB14998.1
	AL832509.1	3	1975
	BC011679.2	1	1593	AAH11679.2
	BX640785.1	2	2175	CAE45875.1
	BX640969.1	3	2055	CAE45984.1
	BX640998.1	3	2055	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	TXNRD2 GP1BB SEPT5 GNB1L TBX1 C22orf29 SEPT5-GP1BB
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	GNB1L C22orf29
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	TRMT2A GP1BB MIR6816 LINC00896 MIR1286 SEPT5-GP1BB LOC284865 TXNRD2 CDC45 GNB1L TBX1 DGCR8 UFD1L MIR3618 DGCR6L COMT MIR1306 CCDC188 CLDN5 SEPT5 MIR185 TANGO2 RTN4R LOC101927859 LOC440792 ZDHHC8 LINC00895 MIR4761 RANBP1 ARVCF C22orf29
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	TRMT2A GP1BB MIR6816 LINC00896 MIR1286 SEPT5-GP1BB LOC284865 TXNRD2 GNB1L TBX1 DGCR8 MIR3618 DGCR6L COMT MIR1306 CCDC188 SEPT5 MIR185 TANGO2 RTN4R LOC440792 ZDHHC8 MIR4761 RANBP1 ARVCF C22orf29
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	TRMT2A GP1BB MIR6816 LINC00896 MIR1286 SEPT5-GP1BB LOC284865 TXNRD2 GNB1L TBX1 DGCR8 MIR3618 DGCR6L COMT MIR1306 CCDC188 SEPT5 MIR185 TANGO2 RTN4R LOC440792 ZDHHC8 MIR4761 RANBP1 ARVCF C22orf29
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 GP1BB SEPT5 GNB1L TBX1 C22orf29 SEPT5-GP1BB
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR3618 TRMT2A DGCR6L COMT MIR1306 CCDC188 MIR6816 LINC00896 MIR185 TANGO2 RTN4R MIR1286 LOC440792 ZDHHC8 MIR4761 LOC284865 TXNRD2 RANBP1 GNB1L TBX1 ARVCF C22orf29 DGCR8
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LOC100996415 GP1BB LINC01311 USP18 MRPL40 DGCR9 DGCR2 LOC642643 GGT3P SEPT5-GP1BB LOC100996401 TXNRD2 CDC45 DGCR5 RIMBP3 GSC2 GNB1L TBX1 DGCR10 UFD1L HIRA LOC729461 DGCR14 COMT CLDN5 SLC25A1 SEPT5 DGCR11 LOC100996432 LINC00895 MIR4761 DGCR6 PI4KAP1 CLTCL1 PRODH TMEM191B TSSK2 LOC102725072 C22orf29 FAM230A C22orf39

More Information

Additional Information:

For this assay, SNP(s) [rs75103145] 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