Hs01777440_cn

• Gene Symbol: DGCR2
• Assay Reference Genome Location: Chr.22:19036307 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 9993
• Gene Name: DiGeorge syndrome critical region gene 2
• Gene Aliases: DGS-C, IDD, LAN, SEZ-12
• Location: Chr.22:19036282-19122454 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DGCR2	NM_001173533.1			NP_001167004.1
	NM_001173534.1			NP_001167005.1
	NM_001184781.1			NP_001171710.1
	NM_005137.2			NP_005128.1
	NR_033674.1
	AW502246.1
	BC040500.1			AAH40500.1
	CR936871.1			CAI59783.1
	D79985.1			BAA11480.1
	L77560.1
	X83545.1			CAA58536.1
	X84076.1			CAA58883.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv588213	Chr.22:18971102 - 19298293 on Build GRCh38	Gain	DGCR9 SLC25A1 DGCR11 DGCR14 TSSK2 LINC01311 DGCR10 DGCR5 DGCR2 GSC2 CLTCL1
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	LOC100996432 DGCR9 LOC642643 LOC729461 FAM230A TMEM191B USP18 LOC100996401 PRODH DGCR2 GGT3P LOC102725072 DGCR11 RIMBP3 DGCR10 PI4KAP1 DGCR6 DGCR5 LOC100996415
dgv4473n100	Chr.22:18888903 - 19047585 on Build GRCh38	Gain+Loss	LOC100996432 DGCR9 DGCR11 DGCR10 DGCR6 PRODH DGCR5 DGCR2
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	LOC100996432 DGCR9 LOC642643 LOC729461 FAM230A TMEM191B USP18 LOC100996401 PRODH DGCR2 GGT3P LOC102725072 RIMBP3 DGCR10 PI4KAP1 DGCR6 DGCR5 LOC100996415
dgv543n27	Chr.22:18890274 - 19046019 on Build GRCh38	Gain	LOC100996432 DGCR9 DGCR10 DGCR6 PRODH DGCR5 DGCR2
dgv4469n100	Chr.22:18760915 - 19037281 on Build GRCh38	Gain	LOC100996432 DGCR9 LOC102725072 DGCR10 DGCR6 PRODH DGCR5 DGCR2 GGT3P
dgv824e214	Chr.22:19027664 - 19115544 on Build GRCh38	Gain	DGCR11 DGCR5 DGCR2
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR9 DGCR11 DGCR10 DGCR6 PRODH DGCR5 DGCR2
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	LOC100996432 DGCR9 LOC102725072 DGCR11 DGCR10 DGCR6 PRODH DGCR5 DGCR2
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	LOC100996432 DGCR9 DGCR10 DGCR6 PRODH DGCR5 DGCR2
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	LOC100996432 DGCR9 LOC642643 LOC729461 FAM230A TMEM191B USP18 LOC100996401 PRODH DGCR2 GGT3P LOC102725072 RIMBP3 DGCR10 PI4KAP1 DGCR6 DGCR5 LOC100996415
dgv1284e212	Chr.22:18929315 - 19037146 on Build GRCh38	Gain	DGCR9 DGCR10 PRODH DGCR5 DGCR2
dgv1285e212	Chr.22:18929330 - 19037146 on Build GRCh38	Loss	DGCR9 DGCR10 PRODH DGCR5 DGCR2
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	LOC100996432 DGCR9 LOC642643 LOC729461 FAM230A TMEM191B TUBA8 USP18 LOC100996401 PRODH DGCR2 GGT3P PEX26 LOC102725072 DGCR11 RIMBP3 DGCR10 PI4KAP1 DGCR6 DGCR5 LOC100996415
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	DGCR9 CDC45 LOC642643 C22orf39 LOC729461 SEPT5-GP1BB CLDN5 TSSK2 SEPT5 LOC100996401 PRODH DGCR2 MRPL40 COMT SLC25A1 LOC102725072 LINC01311 RIMBP3 LOC100996415 LOC100996432 MIR4761 TXNRD2 GNB1L FAM230A TMEM191B USP18 GSC2 GGT3P UFD1L HIRA GP1BB LINC00895 DGCR11 DGCR14 DGCR10 PI4KAP1 DGCR6 TBX1 DGCR5 C22orf29 CLTCL1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

apolipoprotein

Gene Ontology Categories:

Process(es)

cell adhesion
organ morphogenesis
cognition

Function(s)

carbohydrate binding