Hs02342650_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19848537 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	4236	NP_078903.3
	AK026924.1	1	183
	BX640785.1	2	4325	CAE45875.1
	BX640969.1	3	4205	CAE45984.1
	BX640998.1	3	4205	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	SEPT5 GNB1L TBX1 SEPT5-GP1BB C22orf29 TXNRD2 GP1BB
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	GNB1L C22orf29
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	DGCR6L MIR185 LOC284865 LINC00895 TANGO2 ARVCF TBX1 RTN4R LINC00896 TXNRD2 MIR4761 GP1BB CDC45 UFD1L SEPT5 MIR1306 CCDC188 MIR6816 LOC440792 COMT GNB1L SEPT5-GP1BB CLDN5 RANBP1 C22orf29 LOC101927859 MIR1286 TRMT2A ZDHHC8 MIR3618 DGCR8
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	DGCR6L MIR185 LOC284865 TANGO2 ARVCF TBX1 RTN4R LINC00896 TXNRD2 MIR4761 GP1BB SEPT5 MIR1306 CCDC188 MIR6816 LOC440792 COMT GNB1L SEPT5-GP1BB RANBP1 C22orf29 MIR1286 TRMT2A ZDHHC8 MIR3618 DGCR8
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	DGCR6L MIR185 LOC284865 TANGO2 ARVCF TBX1 RTN4R LINC00896 TXNRD2 MIR4761 GP1BB SEPT5 MIR1306 CCDC188 MIR6816 LOC440792 COMT GNB1L SEPT5-GP1BB RANBP1 C22orf29 MIR1286 TRMT2A ZDHHC8 MIR3618 DGCR8
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	GNB1L C22orf29 TXNRD2
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	GNB1L TBX1 C22orf29 TXNRD2
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	SEPT5 GNB1L TBX1 SEPT5-GP1BB C22orf29 TXNRD2 GP1BB
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	DGCR6L MIR185 LOC284865 COMT GNB1L TANGO2 ARVCF TBX1 RTN4R RANBP1 LINC00896 C22orf29 TXNRD2 MIR1286 MIR4761 MIR1306 TRMT2A CCDC188 ZDHHC8 MIR6816 MIR3618 LOC440792 DGCR8
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	TMEM191B GGT3P DGCR11 DGCR2 LINC00895 TBX1 FAM230A LINC01311 LOC100996415 TXNRD2 LOC100996432 CLTCL1 MIR4761 GP1BB CDC45 UFD1L SEPT5 TSSK2 RIMBP3 MRPL40 HIRA SLC25A1 COMT GNB1L DGCR10 PI4KAP1 SEPT5-GP1BB CLDN5 C22orf29 DGCR9 GSC2 DGCR14 DGCR5 LOC642643 USP18 DGCR6 PRODH C22orf39 LOC102725072 LOC729461 LOC100996401

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