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

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