Hs02207236_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19850687 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	2086	NP_078903.3
	AK024778.1	1	1462	BAB14998.1
	AL832509.1	3	1975
	BC011679.2	1	1593	AAH11679.2
	BX640785.1	2	2175	CAE45875.1
	BX640969.1	3	2055	CAE45984.1
	BX640998.1	3	2055	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	TXNRD2 C22orf29 SEPT5 GNB1L GP1BB TBX1 SEPT5-GP1BB
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	C22orf29 GNB1L
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	CDC45 RTN4R TRMT2A TXNRD2 UFD1L MIR6816 RANBP1 TANGO2 TBX1 MIR1286 SEPT5-GP1BB LOC284865 MIR3618 MIR4761 GNB1L LINC00896 LOC440792 LINC00895 DGCR6L MIR1306 DGCR8 C22orf29 SEPT5 ZDHHC8 ARVCF CLDN5 COMT LOC101927859 GP1BB MIR185 CCDC188
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	RTN4R TRMT2A TXNRD2 MIR6816 RANBP1 TANGO2 TBX1 MIR1286 SEPT5-GP1BB LOC284865 MIR3618 MIR4761 GNB1L LINC00896 LOC440792 DGCR6L MIR1306 DGCR8 C22orf29 SEPT5 ZDHHC8 ARVCF COMT GP1BB MIR185 CCDC188
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	RTN4R TRMT2A TXNRD2 MIR6816 RANBP1 TANGO2 TBX1 MIR1286 SEPT5-GP1BB LOC284865 MIR3618 MIR4761 GNB1L LINC00896 LOC440792 DGCR6L MIR1306 DGCR8 C22orf29 SEPT5 ZDHHC8 ARVCF COMT GP1BB MIR185 CCDC188
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	TXNRD2 C22orf29 GNB1L
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TXNRD2 C22orf29 GNB1L TBX1
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TXNRD2 C22orf29 SEPT5 GNB1L GP1BB TBX1 SEPT5-GP1BB
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	CDC45 DGCR6 DGCR2 TXNRD2 GGT3P UFD1L CLTCL1 LOC729461 C22orf39 DGCR5 PI4KAP1 LOC100996415 TBX1 SEPT5-GP1BB HIRA LOC100996432 DGCR14 LOC642643 MIR4761 GNB1L DGCR9 PRODH USP18 LINC00895 SLC25A1 LOC102725072 FAM230A TSSK2 C22orf29 SEPT5 CLDN5 COMT DGCR11 MRPL40 TMEM191B LINC01311 LOC100996401 DGCR10 RIMBP3 GP1BB GSC2
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	RTN4R TRMT2A DGCR8 TXNRD2 C22orf29 ZDHHC8 ARVCF MIR6816 COMT RANBP1 TANGO2 TBX1 MIR1286 LOC284865 MIR3618 MIR4761 GNB1L LINC00896 LOC440792 MIR185 DGCR6L CCDC188 MIR1306

More Information

Additional Information:

For this assay, SNP(s) [rs75103145] 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