Hs01000612_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19849151 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	3622	NP_078903.3
	BX640785.1	2	3711	CAE45875.1
	BX640969.1	3	3591	CAE45984.1
	BX640998.1	3	3591	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 TXNRD2 C22orf29 TBX1 SEPT5 GNB1L GP1BB
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	MIR185 RTN4R LOC101927859 CDC45 RANBP1 DGCR8 TRMT2A MIR6816 LOC440792 TBX1 SEPT5 GP1BB UFD1L LINC00895 CCDC188 SEPT5-GP1BB C22orf29 MIR4761 MIR3618 LOC284865 MIR1306 DGCR6L MIR1286 CLDN5 ZDHHC8 LINC00896 TXNRD2 TANGO2 COMT GNB1L ARVCF
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR185 RTN4R RANBP1 DGCR8 TRMT2A MIR6816 LOC440792 TBX1 SEPT5 GP1BB CCDC188 SEPT5-GP1BB C22orf29 MIR4761 MIR3618 LOC284865 MIR1306 DGCR6L MIR1286 ZDHHC8 LINC00896 TXNRD2 TANGO2 COMT GNB1L ARVCF
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR185 RTN4R RANBP1 DGCR8 TRMT2A MIR6816 LOC440792 TBX1 SEPT5 GP1BB CCDC188 SEPT5-GP1BB C22orf29 MIR4761 MIR3618 LOC284865 MIR1306 DGCR6L MIR1286 ZDHHC8 LINC00896 TXNRD2 TANGO2 COMT GNB1L ARVCF
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	TXNRD2 C22orf29 GNB1L
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TXNRD2 C22orf29 TBX1 GNB1L
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	SEPT5-GP1BB TXNRD2 C22orf29 TBX1 SEPT5 GNB1L GP1BB
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	TMEM191B C22orf39 CDC45 LOC102725072 DGCR5 PI4KAP1 HIRA LINC01311 TBX1 USP18 SEPT5 DGCR6 DGCR2 PRODH GGT3P GP1BB LOC642643 UFD1L LINC00895 LOC100996401 SEPT5-GP1BB DGCR14 SLC25A1 C22orf29 MIR4761 CLTCL1 LOC100996432 DGCR9 GSC2 CLDN5 LOC729461 DGCR11 DGCR10 TXNRD2 COMT TSSK2 GNB1L LOC100996415 RIMBP3 FAM230A MRPL40
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	CCDC188 C22orf29 MIR185 RTN4R MIR4761 MIR3618 LOC284865 MIR1306 RANBP1 DGCR6L MIR1286 DGCR8 ZDHHC8 TRMT2A LINC00896 MIR6816 TXNRD2 LOC440792 TANGO2 TBX1 COMT GNB1L ARVCF

More Information

Additional Information:

For this assay, SNP(s) [rs76085291] 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