Hs01475680_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19850015 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	2758	NP_078903.3
	AL832509.1	3	2647
	BX640785.1	2	2847	CAE45875.1
	BX640969.1	3	2727	CAE45984.1
	BX640998.1	3	2727	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	C22orf29 GP1BB TBX1 SEPT5-GP1BB SEPT5 TXNRD2 GNB1L
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	C22orf29 GNB1L
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	ZDHHC8 SEPT5 TXNRD2 ARVCF MIR1286 LINC00895 UFD1L MIR6816 TANGO2 LINC00896 CDC45 LOC101927859 DGCR6L C22orf29 MIR4761 RANBP1 GNB1L CLDN5 CCDC188 LOC284865 TRMT2A MIR1306 DGCR8 MIR3618 MIR185 GP1BB TBX1 SEPT5-GP1BB LOC440792 RTN4R COMT
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	ZDHHC8 SEPT5 TXNRD2 ARVCF MIR1286 MIR6816 TANGO2 LINC00896 DGCR6L C22orf29 MIR4761 RANBP1 GNB1L CCDC188 LOC284865 TRMT2A MIR1306 DGCR8 MIR3618 MIR185 GP1BB TBX1 SEPT5-GP1BB LOC440792 RTN4R COMT
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	ZDHHC8 SEPT5 TXNRD2 ARVCF MIR1286 MIR6816 TANGO2 LINC00896 DGCR6L C22orf29 MIR4761 RANBP1 GNB1L CCDC188 LOC284865 TRMT2A MIR1306 DGCR8 MIR3618 MIR185 GP1BB TBX1 SEPT5-GP1BB LOC440792 RTN4R COMT
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	C22orf29 TXNRD2 GNB1L
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	C22orf29 TBX1 TXNRD2 GNB1L
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	C22orf29 GP1BB TBX1 SEPT5-GP1BB SEPT5 TXNRD2 GNB1L
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	C22orf29 MIR4761 ZDHHC8 RANBP1 TXNRD2 GNB1L CCDC188 LOC284865 TRMT2A ARVCF MIR1306 MIR1286 DGCR8 MIR3618 MIR185 TBX1 MIR6816 TANGO2 LINC00896 LOC440792 RTN4R DGCR6L COMT
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	SEPT5 USP18 TXNRD2 HIRA TMEM191B DGCR2 DGCR5 CLTCL1 GSC2 DGCR6 LINC00895 DGCR11 LINC01311 DGCR14 UFD1L LOC729461 PRODH PI4KAP1 LOC642643 CDC45 FAM230A LOC100996415 C22orf29 MIR4761 GGT3P LOC102725072 SLC25A1 GNB1L CLDN5 LOC100996432 LOC100996401 DGCR10 C22orf39 GP1BB MRPL40 DGCR9 TBX1 SEPT5-GP1BB TSSK2 RIMBP3 COMT

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