Hs01248546_cn

• Gene Symbol: DBNDD2
• Assay Reference Genome Location: Chr.20:45410334 on build GRCh38
• Cytoband: 20q13.12

Target Gene Details

• Entrez Gene ID: 55861
• Gene Name: dysbindin domain containing 2
• Gene Aliases: C20orf35, CK1BP, HSMNP1
• Location: Chr.20:45405993-45410610 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DBNDD2	NM_001048221.2	4	884	NP_001041686.1
	NM_001048222.2	4	982	NP_001041687.1
	NM_001048223.2	4	833	NP_001041688.1
	NM_001048224.2	4	931	NP_001041689.1
	NM_001048225.2	3	1159	NP_001041690.2
	NM_001048226.2	3	1257	NP_001041691.2
	NM_001197139.1	4	717	NP_001184068.1
	NM_001197140.1	4	763	NP_001184069.1
	NM_018478.3	4	1205	NP_060948.3
	AF220191.1	4	1211	AAF67656.1
	AJ276469.1	4	802	CAB83042.1
	AK000531.1	4	715	BAA91235.1
	AL591565.1	4	717	CAC39141.1
	AW516035.1	1	282
	AY113697.1	3	811	AAM77463.1
	BC001105.2	4	727	AAH01105.1
	BC012818.2	4	727	AAH12818.1
	BX335176.2	4	965

Target Gene Details

• Entrez Gene ID: 767557
• Gene Name: SYS1-DBNDD2 readthrough (NMD candidate)
• Gene Aliases: C20orf169-DBNDD2
• Location: Chr.20:45363169-45410610 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SYS1-DBNDD2	NR_003189.2	6	1068

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1056102	Chr.20:44673341 - 45636248 on Build GRCh38	Loss	WFDC10A WFDC2 EPPIN TP53TG5 SLPI WFDC8 WFDC12 WFDC9 WISP2 SYS1-DBNDD2 SDC4 TOMM34 YWHAB DBNDD2 KCNS1 SYS1 PI3 KCNK15 RBPJL MIR6812 EPPIN-WFDC6 KCNK15-AS1 STK4-AS1 SPINT3 PABPC1L WFDC6 STK4 PIGT WFDC5 MATN4 SEMG2 SEMG1 RIMS4
dgv4319n100	Chr.20:45384898 - 45428463 on Build GRCh38	Gain	PIGT MIR6812 DBNDD2 SYS1-DBNDD2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of protein kinase activity

Function(s)

protein binding