Hs01975599_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19850536 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	2237	NP_078903.3
	AK024778.1	1	1613	BAB14998.1
	AL832509.1	3	2126
	BC011679.2	1	1744	AAH11679.2
	BX640785.1	2	2326	CAE45875.1
	BX640969.1	3	2206	CAE45984.1
	BX640998.1	3	2206	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 GP1BB GNB1L C22orf29 TXNRD2 SEPT5
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	GNB1L C22orf29
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	RANBP1 TBX1 DGCR8 SEPT5-GP1BB MIR4761 MIR1286 TANGO2 GNB1L C22orf29 MIR3618 UFD1L DGCR6L LOC284865 CCDC188 SEPT5 COMT TRMT2A CDC45 LINC00896 RTN4R GP1BB CLDN5 LOC440792 MIR6816 LINC00895 MIR1306 ZDHHC8 MIR185 TXNRD2 ARVCF LOC101927859
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	RANBP1 TBX1 DGCR8 SEPT5-GP1BB MIR4761 MIR1286 TANGO2 GNB1L C22orf29 MIR3618 DGCR6L LOC284865 CCDC188 SEPT5 COMT TRMT2A LINC00896 RTN4R GP1BB LOC440792 MIR6816 MIR1306 ZDHHC8 MIR185 TXNRD2 ARVCF
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	RANBP1 TBX1 DGCR8 SEPT5-GP1BB MIR4761 MIR1286 TANGO2 GNB1L C22orf29 MIR3618 DGCR6L LOC284865 CCDC188 SEPT5 COMT TRMT2A LINC00896 RTN4R GP1BB LOC440792 MIR6816 MIR1306 ZDHHC8 MIR185 TXNRD2 ARVCF
nsv834130	Chr.22:19837923 - 19940567 on Build GRCh38	Loss	GNB1L C22orf29 TXNRD2
esv3568260	Chr.22:19777375 - 19881883 on Build GRCh38	Loss	TBX1 GNB1L C22orf29 TXNRD2
esv3647279	Chr.22:19719848 - 19878980 on Build GRCh38	Gain	TBX1 SEPT5-GP1BB GP1BB GNB1L C22orf29 TXNRD2 SEPT5
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	PRODH TBX1 HIRA SEPT5-GP1BB MIR4761 LOC100996415 SLC25A1 GNB1L C22orf29 DGCR11 DGCR9 LOC100996401 UFD1L C22orf39 PI4KAP1 DGCR5 LOC642643 RIMBP3 TSSK2 SEPT5 COMT GSC2 CDC45 GP1BB DGCR6 MRPL40 CLDN5 USP18 LOC100996432 LOC729461 LOC102725072 DGCR10 LINC00895 DGCR14 GGT3P FAM230A TXNRD2 DGCR2 TMEM191B CLTCL1 LINC01311
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	RANBP1 TBX1 TRMT2A DGCR8 LINC00896 MIR4761 RTN4R MIR1286 TANGO2 GNB1L C22orf29 LOC440792 MIR6816 MIR1306 MIR3618 DGCR6L ZDHHC8 LOC284865 MIR185 TXNRD2 CCDC188 ARVCF 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