Hs01008849_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19848184 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	4589	NP_078903.3
	AK026924.1	1	536
	BX640785.1	2	4678	CAE45875.1
	BX640969.1	3	4558	CAE45984.1
	BX640998.1	3	4558	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	GP1BB TBX1 C22orf29 GNB1L SEPT5-GP1BB SEPT5 TXNRD2
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	C22orf29 GNB1L
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	MIR1306 RANBP1 CDC45 LINC00896 DGCR8 MIR6816 TANGO2 SEPT5 ZDHHC8 TXNRD2 LINC00895 GP1BB MIR3618 UFD1L LOC284865 TBX1 MIR185 LOC101927859 SEPT5-GP1BB MIR4761 TRMT2A CLDN5 CCDC188 DGCR6L ARVCF C22orf29 COMT RTN4R GNB1L MIR1286 LOC440792
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR1306 RANBP1 LINC00896 DGCR8 MIR6816 TANGO2 SEPT5 ZDHHC8 TXNRD2 GP1BB MIR3618 LOC284865 TBX1 MIR185 SEPT5-GP1BB MIR4761 TRMT2A CCDC188 DGCR6L ARVCF C22orf29 COMT RTN4R GNB1L MIR1286 LOC440792
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR1306 RANBP1 LINC00896 DGCR8 MIR6816 TANGO2 SEPT5 ZDHHC8 TXNRD2 GP1BB MIR3618 LOC284865 TBX1 MIR185 SEPT5-GP1BB MIR4761 TRMT2A CCDC188 DGCR6L ARVCF C22orf29 COMT RTN4R GNB1L MIR1286 LOC440792
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	C22orf29 GNB1L TXNRD2
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TBX1 C22orf29 GNB1L TXNRD2
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	GP1BB TBX1 C22orf29 GNB1L SEPT5-GP1BB SEPT5 TXNRD2
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	DGCR6 PRODH SLC25A1 DGCR11 CDC45 LOC729461 RIMBP3 DGCR14 C22orf39 GGT3P GSC2 SEPT5 USP18 TXNRD2 LINC00895 GP1BB DGCR10 CLTCL1 UFD1L LOC100996432 LOC642643 LOC100996401 HIRA TSSK2 TBX1 MRPL40 FAM230A DGCR9 SEPT5-GP1BB LOC102725072 MIR4761 PI4KAP1 CLDN5 DGCR2 DGCR5 C22orf29 TMEM191B COMT GNB1L LINC01311 LOC100996415
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	TBX1 MIR185 MIR1306 RANBP1 LINC00896 DGCR8 MIR6816 TANGO2 MIR4761 TRMT2A ZDHHC8 TXNRD2 CCDC188 DGCR6L MIR3618 ARVCF LOC284865 C22orf29 COMT RTN4R GNB1L MIR1286 LOC440792

More Information

Additional Information:

For this assay, SNP(s) [rs75749250] 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