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

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