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

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