Hs00701348_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19851344 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	1429	NP_078903.3
	AK024778.1	1	805	BAB14998.1
	AK225088.1	1	805
	AK291262.1	3	1397
	AL832509.1	3	1318
	BC011679.2	1	936	AAH11679.2
	BX640785.1	2	1518	CAE45875.1
	BX640969.1	3	1398	CAE45984.1
	BX640998.1	3	1398	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 SEPT5-GP1BB TBX1 GNB1L TXNRD2 C22orf29
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	GNB1L C22orf29
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	DGCR6L RANBP1 UFD1L TANGO2 GNB1L MIR185 LINC00896 LOC440792 TBX1 ZDHHC8 MIR3618 RTN4R C22orf29 DGCR8 CCDC188 ARVCF MIR4761 CLDN5 MIR1306 TRMT2A COMT MIR6816 LOC284865 LINC00895 SEPT5 LOC101927859 GP1BB SEPT5-GP1BB MIR1286 TXNRD2 CDC45
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	DGCR6L RANBP1 TANGO2 GNB1L MIR185 LINC00896 LOC440792 TBX1 ZDHHC8 MIR3618 RTN4R C22orf29 DGCR8 CCDC188 ARVCF MIR4761 MIR1306 TRMT2A COMT MIR6816 LOC284865 SEPT5 GP1BB SEPT5-GP1BB MIR1286 TXNRD2
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	DGCR6L RANBP1 TANGO2 GNB1L MIR185 LINC00896 LOC440792 TBX1 ZDHHC8 MIR3618 RTN4R C22orf29 DGCR8 CCDC188 ARVCF MIR4761 MIR1306 TRMT2A COMT MIR6816 LOC284865 SEPT5 GP1BB SEPT5-GP1BB MIR1286 TXNRD2
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	GNB1L TXNRD2 C22orf29
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TBX1 GNB1L TXNRD2 C22orf29
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	SEPT5 GP1BB SEPT5-GP1BB TBX1 GNB1L TXNRD2 C22orf29
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	DGCR6L DGCR8 CCDC188 ARVCF MIR4761 RANBP1 MIR1306 TANGO2 TRMT2A COMT MIR6816 GNB1L MIR185 LOC284865 LINC00896 LOC440792 TBX1 MIR1286 ZDHHC8 MIR3618 TXNRD2 RTN4R C22orf29
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LOC102725072 DGCR5 LOC642643 UFD1L GNB1L USP18 TMEM191B SLC25A1 PRODH PI4KAP1 GSC2 DGCR6 TBX1 DGCR9 TSSK2 FAM230A LOC100996432 C22orf29 DGCR14 LOC729461 DGCR2 DGCR11 MIR4761 CLDN5 C22orf39 LOC100996415 COMT DGCR10 MRPL40 LINC00895 CLTCL1 SEPT5 LINC01311 HIRA GP1BB GGT3P LOC100996401 SEPT5-GP1BB RIMBP3 TXNRD2 CDC45

More Information

Additional Information:

For this assay, SNP(s) [rs77448872,rs78844806] 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