Hs01137089_cn

• Gene Symbol: DGCR2
• Assay Reference Genome Location: Chr.22:19038009 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: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DGCR2	NM_001173533.1	9	2634	NP_001167004.1
	NM_001173534.1	9	2625	NP_001167005.1
	NM_001184781.1	10	2748	NP_001171710.1
	NM_005137.2	10	2757	NP_005128.1
	NR_033674.1	9	2642
	BC032430.1	10	2693	AAH32430.1
	BC040500.1	10	2752	AAH40500.1
	CR936871.1	11	3092	CAI59783.1
	D79985.1	10	2694	BAA11480.1
	L77560.1	10	2658
	X83545.1	10	2658	CAA58536.1
	X84076.1	10	2655	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	CLTCL1 GSC2 DGCR14 DGCR10 DGCR5 DGCR9 DGCR11 LINC01311 DGCR2 SLC25A1 TSSK2
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	DGCR6 DGCR10 DGCR5 LOC102725072 LOC100996432 DGCR9 DGCR11 PRODH DGCR2
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	RIMBP3 FAM230A DGCR6 TMEM191B DGCR5 LOC642643 GGT3P PRODH LOC729461 PI4KAP1 DGCR10 LOC102725072 LOC100996432 DGCR9 DGCR11 USP18 LOC100996401 LOC100996415 DGCR2
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	DGCR6 DGCR10 DGCR5 LOC100996432 DGCR9 PRODH DGCR2
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	RIMBP3 FAM230A DGCR6 TMEM191B DGCR5 LOC642643 GGT3P PRODH LOC729461 PI4KAP1 DGCR10 LOC102725072 LOC100996432 DGCR9 USP18 LOC100996401 LOC100996415 DGCR2
dgv4473n100	Chr.22:18888903 - 19047585 on Build GRCh38	Gain+Loss	DGCR6 DGCR10 DGCR5 LOC100996432 DGCR9 DGCR11 PRODH DGCR2
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	RIMBP3 FAM230A DGCR6 TMEM191B DGCR5 LOC642643 GGT3P PRODH LOC729461 PI4KAP1 DGCR10 LOC102725072 LOC100996432 DGCR9 USP18 LOC100996401 LOC100996415 DGCR2
dgv543n27	Chr.22:18890274 - 19046019 on Build GRCh38	Gain	DGCR6 DGCR10 DGCR5 LOC100996432 DGCR9 PRODH DGCR2
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	RIMBP3 FAM230A DGCR6 TMEM191B TUBA8 DGCR5 LOC642643 GGT3P PRODH LOC729461 PI4KAP1 DGCR10 LOC102725072 LOC100996432 DGCR9 PEX26 DGCR11 USP18 LOC100996401 LOC100996415 DGCR2
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	CLTCL1 GNB1L DGCR6 DGCR14 MRPL40 LOC642643 CLDN5 GGT3P LINC01311 C22orf29 GSC2 LOC729461 PI4KAP1 SEPT5 C22orf39 LOC100996432 MIR4761 LOC100996401 LINC00895 DGCR2 RIMBP3 FAM230A TMEM191B CDC45 DGCR5 UFD1L PRODH GP1BB SLC25A1 TSSK2 TXNRD2 TBX1 DGCR10 HIRA SEPT5-GP1BB COMT LOC102725072 DGCR9 DGCR11 USP18 LOC100996415
dgv824e214	Chr.22:19027664 - 19115544 on Build GRCh38	Gain	DGCR5 DGCR11 DGCR2
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR6 DGCR10 DGCR5 DGCR9 DGCR11 PRODH DGCR2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

apolipoprotein

Gene Ontology Categories:

Process(es)

cell adhesion
organ morphogenesis
cognition

Function(s)

carbohydrate binding