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	TXNRD2 GNB1L SEPT5-GP1BB SEPT5 TBX1 C22orf29 GP1BB
nsv953024	Chr.22:19842078 - 19854877 on Build GRCh38	Deletion	GNB1L C22orf29
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	TANGO2 CLDN5 SEPT5-GP1BB MIR6816 LINC00896 ARVCF MIR1306 RTN4R CCDC188 DGCR6L MIR4761 DGCR8 SEPT5 ZDHHC8 C22orf29 COMT TXNRD2 GNB1L TRMT2A LINC00895 UFD1L LOC284865 CDC45 LOC440792 LOC101927859 MIR185 RANBP1 MIR1286 TBX1 GP1BB MIR3618
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	TANGO2 SEPT5-GP1BB MIR6816 LINC00896 ARVCF MIR1306 RTN4R CCDC188 DGCR6L MIR4761 DGCR8 SEPT5 ZDHHC8 C22orf29 COMT TXNRD2 GNB1L TRMT2A LOC284865 LOC440792 MIR185 RANBP1 MIR1286 TBX1 GP1BB MIR3618
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	TANGO2 SEPT5-GP1BB MIR6816 LINC00896 ARVCF MIR1306 RTN4R CCDC188 DGCR6L MIR4761 DGCR8 SEPT5 ZDHHC8 C22orf29 COMT TXNRD2 GNB1L TRMT2A LOC284865 LOC440792 MIR185 RANBP1 MIR1286 TBX1 GP1BB MIR3618
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 GNB1L SEPT5-GP1BB SEPT5 TBX1 C22orf29 GP1BB
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	GSC2 CLDN5 LINC01311 RIMBP3 C22orf39 PI4KAP1 SEPT5-GP1BB CLTCL1 USP18 DGCR11 DGCR14 MRPL40 FAM230A MIR4761 LOC100996432 LOC100996415 TSSK2 LOC100996401 SLC25A1 DGCR10 SEPT5 C22orf29 DGCR2 COMT TXNRD2 GNB1L LINC00895 LOC102725072 UFD1L LOC642643 GGT3P CDC45 DGCR6 DGCR5 TMEM191B PRODH LOC729461 DGCR9 TBX1 HIRA GP1BB
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	TXNRD2 GNB1L TANGO2 TRMT2A LOC284865 MIR6816 LINC00896 ARVCF MIR1306 LOC440792 RTN4R MIR185 RANBP1 CCDC188 DGCR6L MIR4761 MIR1286 DGCR8 TBX1 ZDHHC8 C22orf29 MIR3618 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