Hs02323985_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19849865 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	2908	NP_078903.3
	AL832509.1	3	2797
	BX640785.1	2	2997	CAE45875.1
	BX640969.1	3	2877	CAE45984.1
	BX640998.1	3	2877	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 C22orf29 TXNRD2 GNB1L SEPT5-GP1BB GP1BB SEPT5
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	C22orf29 GNB1L
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	MIR3618 LOC440792 CDC45 MIR185 UFD1L TANGO2 CLDN5 DGCR6L LOC101927859 TXNRD2 TRMT2A MIR6816 SEPT5-GP1BB MIR1286 RANBP1 SEPT5 ARVCF LINC00896 TBX1 C22orf29 LOC284865 ZDHHC8 MIR4761 GP1BB DGCR8 MIR1306 CCDC188 GNB1L COMT RTN4R LINC00895
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR3618 LOC440792 MIR185 TANGO2 DGCR6L TXNRD2 TRMT2A MIR6816 SEPT5-GP1BB MIR1286 RANBP1 SEPT5 ARVCF LINC00896 TBX1 C22orf29 LOC284865 ZDHHC8 MIR4761 GP1BB DGCR8 MIR1306 CCDC188 GNB1L COMT RTN4R
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR3618 LOC440792 MIR185 TANGO2 DGCR6L TXNRD2 TRMT2A MIR6816 SEPT5-GP1BB MIR1286 RANBP1 SEPT5 ARVCF LINC00896 TBX1 C22orf29 LOC284865 ZDHHC8 MIR4761 GP1BB DGCR8 MIR1306 CCDC188 GNB1L COMT RTN4R
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	C22orf29 TXNRD2 GNB1L
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TBX1 C22orf29 TXNRD2 GNB1L
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TBX1 C22orf29 TXNRD2 GNB1L SEPT5-GP1BB GP1BB SEPT5
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR3618 LINC00896 TBX1 LOC440792 C22orf29 LOC284865 ZDHHC8 MIR4761 MIR185 TANGO2 DGCR6L DGCR8 MIR1306 CCDC188 TXNRD2 GNB1L COMT TRMT2A RTN4R MIR6816 MIR1286 RANBP1 ARVCF
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	LINC01311 DGCR2 RIMBP3 CDC45 UFD1L CLTCL1 LOC100996401 DGCR14 CLDN5 MRPL40 LOC642643 GGT3P TXNRD2 FAM230A SLC25A1 TMEM191B LOC100996432 SEPT5-GP1BB DGCR11 TSSK2 PRODH SEPT5 TBX1 C22orf29 LOC100996415 PI4KAP1 DGCR5 MIR4761 HIRA LOC102725072 GP1BB DGCR9 LOC729461 DGCR6 C22orf39 DGCR10 GNB1L COMT GSC2 LINC00895 USP18

More Information

• 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