Hs01369381_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19848999 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	3774	NP_078903.3
	BX640785.1	2	3863	CAE45875.1
	BX640969.1	3	3743	CAE45984.1
	BX640998.1	3	3743	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 SEPT5 C22orf29 GP1BB SEPT5-GP1BB
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	GNB1L C22orf29
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	MIR1306 C22orf29 CDC45 MIR6816 GNB1L MIR185 GP1BB DGCR6L RANBP1 MIR1286 LOC440792 CCDC188 SEPT5-GP1BB COMT MIR4761 LOC101927859 DGCR8 LOC284865 TRMT2A MIR3618 TBX1 ARVCF TXNRD2 SEPT5 LINC00895 ZDHHC8 UFD1L RTN4R LINC00896 TANGO2 CLDN5
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR1306 C22orf29 MIR6816 GNB1L MIR185 GP1BB DGCR6L RANBP1 MIR1286 LOC440792 CCDC188 SEPT5-GP1BB COMT MIR4761 DGCR8 LOC284865 TRMT2A MIR3618 TBX1 ARVCF TXNRD2 SEPT5 ZDHHC8 RTN4R LINC00896 TANGO2
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR1306 C22orf29 MIR6816 GNB1L MIR185 GP1BB DGCR6L RANBP1 MIR1286 LOC440792 CCDC188 SEPT5-GP1BB COMT MIR4761 DGCR8 LOC284865 TRMT2A MIR3618 TBX1 ARVCF TXNRD2 SEPT5 ZDHHC8 RTN4R LINC00896 TANGO2
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 SEPT5 C22orf29 GP1BB SEPT5-GP1BB
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR4761 MIR1306 C22orf29 DGCR8 LOC284865 TRMT2A MIR6816 MIR3618 GNB1L TBX1 MIR185 ARVCF TXNRD2 ZDHHC8 DGCR6L RANBP1 RTN4R LINC00896 MIR1286 TANGO2 LOC440792 CCDC188 COMT
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	DGCR5 GSC2 HIRA FAM230A C22orf29 DGCR9 CDC45 LOC100996432 PRODH LOC642643 DGCR11 GNB1L LINC01311 TMEM191B RIMBP3 LOC100996415 GP1BB TSSK2 USP18 LOC100996401 SEPT5-GP1BB COMT MIR4761 CLTCL1 SLC25A1 LOC102725072 DGCR6 DGCR2 DGCR14 TBX1 TXNRD2 SEPT5 LOC729461 LINC00895 MRPL40 UFD1L GGT3P PI4KAP1 DGCR10 C22orf39 CLDN5

More Information

Additional Information:

For this assay, SNP(s) [rs115759616,rs138852781] 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