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

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