Hs01139074_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19848021 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	4752	NP_078903.3
	AK026924.1	1	699
	BX640785.1	2	4841	CAE45875.1
	BX640969.1	3	4721	CAE45984.1
	BX640998.1	3	4721	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	GP1BB GNB1L C22orf29 SEPT5 SEPT5-GP1BB TBX1 TXNRD2
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	GNB1L C22orf29
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	TRMT2A GNB1L C22orf29 MIR3618 ZDHHC8 RTN4R RANBP1 LINC00895 MIR6816 UFD1L CCDC188 LOC284865 CLDN5 TBX1 MIR1286 ARVCF LOC440792 MIR4761 SEPT5 DGCR6L LINC00896 SEPT5-GP1BB MIR185 TXNRD2 GP1BB CDC45 LOC101927859 TANGO2 COMT MIR1306 DGCR8
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	TRMT2A GNB1L C22orf29 MIR3618 ZDHHC8 RTN4R RANBP1 MIR6816 CCDC188 LOC284865 TBX1 MIR1286 ARVCF LOC440792 MIR4761 SEPT5 DGCR6L LINC00896 SEPT5-GP1BB MIR185 TXNRD2 GP1BB TANGO2 COMT MIR1306 DGCR8
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	TRMT2A GNB1L C22orf29 MIR3618 ZDHHC8 RTN4R RANBP1 MIR6816 CCDC188 LOC284865 TBX1 MIR1286 ARVCF LOC440792 MIR4761 SEPT5 DGCR6L LINC00896 SEPT5-GP1BB MIR185 TXNRD2 GP1BB TANGO2 COMT MIR1306 DGCR8
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	GNB1L C22orf29 TXNRD2
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	GNB1L C22orf29 TBX1 TXNRD2
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	GP1BB GNB1L C22orf29 SEPT5 SEPT5-GP1BB TBX1 TXNRD2
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	GNB1L C22orf29 DGCR14 C22orf39 LOC642643 TSSK2 MRPL40 LINC00895 HIRA UFD1L GSC2 DGCR2 DGCR5 LOC729461 SLC25A1 CLDN5 LOC100996432 LOC102725072 TMEM191B TBX1 DGCR6 FAM230A MIR4761 DGCR9 PRODH LOC100996401 SEPT5 DGCR11 RIMBP3 SEPT5-GP1BB USP18 TXNRD2 GP1BB LINC01311 CDC45 DGCR10 GGT3P LOC100996415 COMT CLTCL1 PI4KAP1
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	TRMT2A GNB1L C22orf29 MIR3618 MIR4761 DGCR6L ZDHHC8 LINC00896 RTN4R MIR185 RANBP1 TXNRD2 MIR6816 CCDC188 LOC284865 TANGO2 COMT TBX1 MIR1306 MIR1286 ARVCF DGCR8 LOC440792

More Information

Additional Information:

For this assay, SNP(s) [rs73379999,rs80122683] 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