Hs01601896_cn

• Gene Symbol: GMPPB
• Assay Reference Genome Location: Chr.3:49721413 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 29925
• Gene Name: GDP-mannose pyrophosphorylase B
• Gene Aliases: MDDGA14, MDDGB14, MDDGC14
• Location: Chr.3:49721476-49723974 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GMPPB	NM_013334.3			NP_037466.2
	NM_021971.2			NP_068806.1
	AK024319.1	8	1728	BAB14882.1
	AK026582.1	1	449
	AK291700.1

Target Gene Details

• Entrez Gene ID: 63891
• Gene Name: ring finger protein 123
• Gene Aliases: FP1477, KPC1
• Location: Chr.3:49688753-49721529 on Build GRCh38
• Assay Gene Location: Within Exon 41

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RNF123	NM_022064.4	39	4197	NP_071347.2
	NR_135218.1	39	4437
	XM_006713285.1	39	4355	XP_006713348.1
	XM_011533995.1	39	4132	XP_011532297.1
	XM_017007018.1	39	4159	XP_016862507.1
	AF370367.1	30	3351	AAQ15203.1
	AK022627.1	17	2023	BAB14139.1
	AK026968.1			BAB15607.1
	AK090632.1	29	3239
	AK096353.1	39	4111
	AK126883.1	23	3904
	AL136729.1	12	1581	CAB66663.2
	AL832034.1	39	4159
	AL832138.1	38	4448
	AL832344.1	39	4135
	AY744152.1	38	4080	AAU93470.1
	BC041145.1	24	2730	AAH41145.1
	BC057392.1	26	2887	AAH57392.2
	BC088801.1	21	2458	AAH88801.1
	CR627051.1	35	5769

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv508217	Chr.3:49578013 - 49732463 on Build GRCh38	Deletion	RNF123 IP6K1 AMIGO3 APEH MST1 BSN GMPPB

More Information

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

Panther Classification:

Molecular Function -

transferase

Gene Ontology Categories:

Process(es)

GDP-mannose biosynthetic process
protein ubiquitination

Function(s)

mannose-1-phosphate guanylyltransferase activity
protein binding
GTP binding
zinc ion binding
ligase activity