Hs01008849_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19848184 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	4589	NP_078903.3
	AK026924.1	1	536
	BX640785.1	2	4678	CAE45875.1
	BX640969.1	3	4558	CAE45984.1
	BX640998.1	3	4558	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 GNB1L GP1BB SEPT5-GP1BB TXNRD2 TBX1 C22orf29
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	GNB1L C22orf29
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	LINC00895 GNB1L ARVCF TANGO2 SEPT5-GP1BB UFD1L MIR3618 TBX1 LOC284865 DGCR8 LOC440792 CDC45 MIR1306 MIR4761 RANBP1 ZDHHC8 SEPT5 DGCR6L TXNRD2 TRMT2A CLDN5 COMT LOC101927859 RTN4R MIR6816 GP1BB MIR1286 MIR185 CCDC188 LINC00896 C22orf29
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	GNB1L ARVCF TANGO2 SEPT5-GP1BB MIR3618 TBX1 LOC284865 DGCR8 LOC440792 MIR1306 MIR4761 RANBP1 ZDHHC8 SEPT5 DGCR6L TXNRD2 TRMT2A COMT RTN4R MIR6816 GP1BB MIR1286 MIR185 CCDC188 LINC00896 C22orf29
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	GNB1L ARVCF TANGO2 SEPT5-GP1BB MIR3618 TBX1 LOC284865 DGCR8 LOC440792 MIR1306 MIR4761 RANBP1 ZDHHC8 SEPT5 DGCR6L TXNRD2 TRMT2A COMT RTN4R MIR6816 GP1BB MIR1286 MIR185 CCDC188 LINC00896 C22orf29
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	GNB1L TXNRD2 C22orf29
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	GNB1L TXNRD2 TBX1 C22orf29
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	SEPT5 GNB1L GP1BB SEPT5-GP1BB TXNRD2 TBX1 C22orf29
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR4761 RANBP1 ZDHHC8 GNB1L ARVCF TANGO2 DGCR6L TXNRD2 MIR3618 TBX1 TRMT2A LOC284865 COMT RTN4R MIR6816 DGCR8 MIR1286 MIR185 CCDC188 LINC00896 C22orf29 LOC440792 MIR1306
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	PRODH LOC729461 LINC00895 GNB1L SEPT5-GP1BB C22orf39 LOC102725072 UFD1L TBX1 GGT3P LOC100996415 RIMBP3 GSC2 DGCR9 DGCR2 DGCR14 HIRA CDC45 SLC25A1 DGCR6 MIR4761 PI4KAP1 SEPT5 FAM230A TXNRD2 TMEM191B LOC100996432 LOC100996401 CLDN5 DGCR10 COMT TSSK2 LOC642643 USP18 CLTCL1 GP1BB DGCR5 LINC01311 C22orf29 MRPL40 DGCR11

More Information

Additional Information:

For this assay, SNP(s) [rs75749250] 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