Hs02070636_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19851523 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	1250	NP_078903.3
	AK024778.1	1	626	BAB14998.1
	AK225088.1	1	626
	AK291262.1	3	1218
	AL832509.1	3	1139
	BC011679.2	1	757	AAH11679.2
	BX640785.1	2	1339	CAE45875.1
	BX640969.1	3	1219	CAE45984.1
	BX640998.1	3	1219	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 SEPT5-GP1BB GP1BB GNB1L TBX1 C22orf29 SEPT5
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	GNB1L C22orf29
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	SEPT5-GP1BB GNB1L TBX1 COMT TRMT2A CLDN5 RTN4R RANBP1 LINC00895 MIR6816 ZDHHC8 MIR1306 MIR1286 ARVCF C22orf29 SEPT5 CCDC188 MIR3618 MIR4761 DGCR8 LOC101927859 LINC00896 CDC45 MIR185 TXNRD2 GP1BB UFD1L LOC284865 TANGO2 LOC440792 DGCR6L
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	SEPT5-GP1BB GNB1L TBX1 COMT TRMT2A RTN4R RANBP1 MIR6816 ZDHHC8 MIR1306 MIR1286 ARVCF C22orf29 SEPT5 CCDC188 MIR3618 MIR4761 DGCR8 LINC00896 MIR185 TXNRD2 GP1BB LOC284865 TANGO2 LOC440792 DGCR6L
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	SEPT5-GP1BB GNB1L TBX1 COMT TRMT2A RTN4R RANBP1 MIR6816 ZDHHC8 MIR1306 MIR1286 ARVCF C22orf29 SEPT5 CCDC188 MIR3618 MIR4761 DGCR8 LINC00896 MIR185 TXNRD2 GP1BB LOC284865 TANGO2 LOC440792 DGCR6L
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	TXNRD2 GNB1L C22orf29
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TXNRD2 GNB1L TBX1 C22orf29
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TXNRD2 SEPT5-GP1BB GP1BB GNB1L TBX1 C22orf29 SEPT5
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR3618 MIR4761 DGCR8 GNB1L LINC00896 TBX1 COMT TRMT2A MIR185 TXNRD2 RTN4R RANBP1 MIR6816 ZDHHC8 MIR1306 MIR1286 LOC284865 TANGO2 LOC440792 ARVCF C22orf29 DGCR6L CCDC188
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	SEPT5-GP1BB FAM230A TMEM191B GNB1L TBX1 COMT LOC102725072 LOC100996401 DGCR9 TSSK2 CLDN5 LOC642643 LOC729461 DGCR11 LOC100996415 MRPL40 LINC00895 RIMBP3 CLTCL1 DGCR10 DGCR6 USP18 C22orf29 GSC2 SEPT5 PRODH MIR4761 PI4KAP1 DGCR14 CDC45 HIRA TXNRD2 GP1BB UFD1L LOC100996432 C22orf39 DGCR2 SLC25A1 LINC01311 GGT3P DGCR5

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