Hs01259139_cn

• Gene Symbol: DGCR2
• Assay Reference Genome Location: Chr.22:19038108 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	2535	NP_001167004.1
	NM_001173534.1	9	2526	NP_001167005.1
	NM_001184781.1	10	2649	NP_001171710.1
	NM_005137.2	10	2658	NP_005128.1
	NR_033674.1	9	2543
	BC032430.1	10	2594	AAH32430.1
	BC040500.1	10	2653	AAH40500.1
	CR936871.1	11	2993	CAI59783.1
	D79985.1	10	2595	BAA11480.1
	L77560.1	10	2559
	X83545.1	10	2559	CAA58536.1
	X84076.1	10	2556	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 DGCR2 DGCR5 DGCR11 LINC01311 TSSK2 SLC25A1 DGCR10 DGCR14 DGCR9 GSC2
nsv1067175	Chr.22:18822569 - 19046938 on Build GRCh38	Loss	DGCR2 DGCR6 DGCR5 DGCR11 PRODH LOC100996432 DGCR10 DGCR9 LOC102725072
dgv173e55	Chr.22:18157533 - 19070277 on Build GRCh38	Gain	PI4KAP1 DGCR2 DGCR5 DGCR11 RIMBP3 TMEM191B LOC100996432 GGT3P LOC102725072 LOC100996415 DGCR6 LOC642643 LOC100996401 FAM230A PRODH LOC729461 USP18 DGCR10 DGCR9
dgv7969n54	Chr.22:18874235 - 19046019 on Build GRCh38	Gain	DGCR2 DGCR6 DGCR5 PRODH LOC100996432 DGCR10 DGCR9
nsv516997	Chr.22:18143870 - 19039100 on Build GRCh38	Gain+Loss	PI4KAP1 DGCR2 DGCR5 RIMBP3 TMEM191B LOC100996432 GGT3P LOC102725072 LOC100996415 DGCR6 LOC642643 LOC100996401 FAM230A PRODH LOC729461 USP18 DGCR10 DGCR9
dgv4473n100	Chr.22:18888903 - 19047585 on Build GRCh38	Gain+Loss	DGCR2 DGCR6 DGCR5 DGCR11 PRODH LOC100996432 DGCR10 DGCR9
esv2751935	Chr.22:18149609 - 19042823 on Build GRCh38	Loss	PI4KAP1 DGCR2 DGCR5 RIMBP3 TMEM191B LOC100996432 GGT3P LOC102725072 LOC100996415 DGCR6 LOC642643 LOC100996401 FAM230A PRODH LOC729461 USP18 DGCR10 DGCR9
dgv543n27	Chr.22:18890274 - 19046019 on Build GRCh38	Gain	DGCR2 DGCR6 DGCR5 PRODH LOC100996432 DGCR10 DGCR9
esv2758824	Chr.22:18069029 - 19074200 on Build GRCh38	Gain+Loss	PI4KAP1 DGCR2 DGCR5 DGCR11 RIMBP3 TMEM191B TUBA8 LOC100996432 GGT3P LOC102725072 LOC100996415 DGCR6 LOC642643 LOC100996401 FAM230A PEX26 PRODH LOC729461 USP18 DGCR10 DGCR9
esv3575418	Chr.22:18161776 - 19963846 on Build GRCh38	Gain	PI4KAP1 TXNRD2 DGCR2 LINC01311 TMEM191B LOC100996432 CLDN5 GNB1L CLTCL1 DGCR6 LOC100996401 C22orf39 PRODH SEPT5 TSSK2 SLC25A1 USP18 DGCR10 DGCR9 UFD1L DGCR5 DGCR11 RIMBP3 COMT MIR4761 SEPT5-GP1BB GGT3P LOC102725072 LOC100996415 CDC45 LOC642643 FAM230A LINC00895 MRPL40 TBX1 HIRA GP1BB LOC729461 C22orf29 DGCR14 GSC2
dgv824e214	Chr.22:19027664 - 19115544 on Build GRCh38	Gain	DGCR2 DGCR5 DGCR11
dgv174e55	Chr.22:18903433 - 19050022 on Build GRCh38	Gain	DGCR2 DGCR6 DGCR5 DGCR11 PRODH DGCR10 DGCR9

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