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
nsv828949	Chr.22:19849159 - 19849738 on Build GRCh38	Gain	GNB1L C22orf29
nsv834129	Chr.22:19705617 - 19919068 on Build GRCh38	Loss	GP1BB GNB1L SEPT5 SEPT5-GP1BB TXNRD2 C22orf29 TBX1
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	GNB1L C22orf29
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	LINC00895 MIR4761 LOC101927859 MIR3618 C22orf29 TBX1 DGCR6L DGCR8 MIR185 ZDHHC8 LOC284865 MIR1306 ARVCF GNB1L TRMT2A CDC45 UFD1L COMT MIR1286 LOC440792 GP1BB SEPT5 SEPT5-GP1BB MIR6816 RTN4R LINC00896 CLDN5 RANBP1 CCDC188 TXNRD2 TANGO2
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR4761 MIR3618 C22orf29 TBX1 DGCR6L DGCR8 MIR185 ZDHHC8 LOC284865 MIR1306 ARVCF GNB1L TRMT2A COMT MIR1286 LOC440792 GP1BB SEPT5 SEPT5-GP1BB MIR6816 RTN4R LINC00896 RANBP1 CCDC188 TXNRD2 TANGO2
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR4761 MIR3618 C22orf29 TBX1 DGCR6L DGCR8 MIR185 ZDHHC8 LOC284865 MIR1306 ARVCF GNB1L TRMT2A COMT MIR1286 LOC440792 GP1BB SEPT5 SEPT5-GP1BB MIR6816 RTN4R LINC00896 RANBP1 CCDC188 TXNRD2 TANGO2
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	GNB1L TXNRD2 C22orf29
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	GNB1L TXNRD2 C22orf29 TBX1
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	GP1BB GNB1L SEPT5 SEPT5-GP1BB TXNRD2 C22orf29 TBX1
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR4761 GNB1L TRMT2A MIR3618 C22orf29 TBX1 DGCR6L COMT MIR1286 LOC440792 MIR6816 RTN4R LINC00896 DGCR8 MIR185 RANBP1 CCDC188 ZDHHC8 TXNRD2 LOC284865 TANGO2 MIR1306 ARVCF
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LINC00895 MIR4761 USP18 DGCR11 GSC2 DGCR2 LOC642643 C22orf29 TBX1 LOC100996401 TSSK2 DGCR5 SLC25A1 RIMBP3 FAM230A LINC01311 DGCR14 DGCR6 LOC100996432 HIRA GGT3P LOC729461 PI4KAP1 LOC102725072 PRODH MRPL40 GNB1L TMEM191B CDC45 UFD1L DGCR10 CLTCL1 COMT DGCR9 GP1BB SEPT5 LOC100996415 SEPT5-GP1BB CLDN5 TXNRD2 C22orf39

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