Hs01867721_cn

• Gene Symbol: C22orf29
• Assay Reference Genome Location: Chr.22:19851164 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	1609	NP_078903.3
	AK024778.1	1	985	BAB14998.1
	AK225088.1	1	985
	AK291262.1	3	1577
	AL832509.1	3	1498
	BC011679.2	1	1116	AAH11679.2
	BX640785.1	2	1698	CAE45875.1
	BX640969.1	3	1578	CAE45984.1
	BX640998.1	3	1578	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	GP1BB SEPT5 C22orf29 TBX1 TXNRD2 SEPT5-GP1BB GNB1L
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	C22orf29 GNB1L
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	C22orf29 TBX1 MIR1286 LOC101927859 MIR4761 COMT TRMT2A DGCR6L CLDN5 LINC00896 SEPT5-GP1BB LINC00895 LOC284865 GNB1L CDC45 MIR1306 LOC440792 MIR6816 SEPT5 UFD1L ARVCF RTN4R MIR185 ZDHHC8 GP1BB CCDC188 DGCR8 TANGO2 TXNRD2 RANBP1 MIR3618
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	C22orf29 TBX1 MIR1286 MIR4761 COMT TRMT2A DGCR6L LINC00896 SEPT5-GP1BB LOC284865 GNB1L MIR1306 LOC440792 MIR6816 SEPT5 ARVCF RTN4R MIR185 ZDHHC8 GP1BB CCDC188 DGCR8 TANGO2 TXNRD2 RANBP1 MIR3618
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	C22orf29 TBX1 MIR1286 MIR4761 COMT TRMT2A DGCR6L LINC00896 SEPT5-GP1BB LOC284865 GNB1L MIR1306 LOC440792 MIR6816 SEPT5 ARVCF RTN4R MIR185 ZDHHC8 GP1BB CCDC188 DGCR8 TANGO2 TXNRD2 RANBP1 MIR3618
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	GP1BB SEPT5 C22orf29 TBX1 TXNRD2 SEPT5-GP1BB GNB1L
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR1306 LOC440792 MIR6816 C22orf29 ARVCF TBX1 MIR1286 RTN4R MIR185 ZDHHC8 MIR4761 COMT CCDC188 TRMT2A DGCR8 TANGO2 DGCR6L TXNRD2 RANBP1 MIR3618 LINC00896 LOC284865 GNB1L
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	C22orf29 DGCR11 CLTCL1 TBX1 LOC642643 USP18 GSC2 TSSK2 MIR4761 COMT TMEM191B MRPL40 LOC100996415 FAM230A CLDN5 LINC01311 DGCR2 LOC100996401 SEPT5-GP1BB LINC00895 GNB1L CDC45 C22orf39 DGCR9 SEPT5 UFD1L DGCR5 DGCR14 LOC102725072 HIRA LOC729461 PI4KAP1 GP1BB RIMBP3 SLC25A1 PRODH GGT3P LOC100996432 DGCR10 TXNRD2 DGCR6

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