Hs01473496_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19847542 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	5231	NP_078903.3
	AK026924.1	1	1178
	BX640969.1	3	5200	CAE45984.1
	BX640998.1	3	5200	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 GP1BB C22orf29 TBX1 GNB1L SEPT5
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	C22orf29 GNB1L
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	MIR3618 SEPT5-GP1BB MIR185 TXNRD2 LINC00895 MIR1286 ARVCF LINC00896 DGCR8 MIR6816 COMT MIR4761 MIR1306 LOC440792 GP1BB CCDC188 LOC284865 C22orf29 CLDN5 TBX1 RANBP1 TANGO2 LOC101927859 ZDHHC8 CDC45 GNB1L SEPT5 UFD1L TRMT2A RTN4R DGCR6L
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR3618 SEPT5-GP1BB MIR185 TXNRD2 MIR1286 ARVCF LINC00896 DGCR8 MIR6816 COMT MIR4761 MIR1306 LOC440792 GP1BB CCDC188 LOC284865 C22orf29 TBX1 RANBP1 TANGO2 ZDHHC8 GNB1L SEPT5 TRMT2A RTN4R DGCR6L
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR3618 SEPT5-GP1BB MIR185 TXNRD2 MIR1286 ARVCF LINC00896 DGCR8 MIR6816 COMT MIR4761 MIR1306 LOC440792 GP1BB CCDC188 LOC284865 C22orf29 TBX1 RANBP1 TANGO2 ZDHHC8 GNB1L SEPT5 TRMT2A RTN4R DGCR6L
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	TXNRD2 C22orf29 GNB1L
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TXNRD2 C22orf29 TBX1 GNB1L
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	SEPT5-GP1BB TXNRD2 GP1BB C22orf29 TBX1 GNB1L SEPT5
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR3618 MIR185 TXNRD2 RANBP1 TANGO2 MIR1286 ARVCF LINC00896 ZDHHC8 GNB1L DGCR8 MIR6816 TRMT2A COMT MIR4761 RTN4R MIR1306 LOC440792 CCDC188 LOC284865 C22orf29 TBX1 DGCR6L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LOC102725072 SEPT5-GP1BB TXNRD2 PRODH LOC100996432 CLTCL1 PI4KAP1 LINC00895 LOC729461 LOC100996401 FAM230A C22orf39 USP18 HIRA COMT MIR4761 DGCR5 DGCR14 GP1BB C22orf29 DGCR9 CLDN5 TBX1 DGCR6 RIMBP3 GGT3P LOC642643 GSC2 LINC01311 TMEM191B CDC45 GNB1L SEPT5 LOC100996415 UFD1L DGCR10 TSSK2 DGCR2 MRPL40 DGCR11 SLC25A1

More Information

Additional Information:

For this assay, SNP(s) [rs75127693] 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