Hs02640308_cn

• Gene Symbol: ERMP1
• Assay Reference Genome Location: Chr.9:5772998 on build GRCh38
• Cytoband: 9p24.1

Target Gene Details

• Entrez Gene ID: 79956
• Gene Name: endoplasmic reticulum metallopeptidase 1
• Gene Aliases: FXNA, KIAA1815, bA207C16.3
• Location: Chr.9:5764061-5867091 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ERMP1	AK127218.1

Target Gene Details

• Entrez Gene ID: 57589
• Gene Name: RIC1 homolog, RAB6A GEF complex partner 1
• Gene Aliases: CIP150, KIAA1432, bA207C16.1
• Location: Chr.9:5629030-5778633 on Build GRCh38
• Assay Gene Location: Within Exon 27

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RIC1	NM_001206557.1	24	3981	NP_001193486.1
	NM_020829.3	25	4092	NP_065880.2
	XM_005251523.3	25	4178	XP_005251580.1
	XM_011517967.2	18	3090	XP_011516269.1
	XM_011517968.2	13	2425	XP_011516270.1
	XM_017014934.1	25	3748	XP_016870423.1
	XM_017014935.1	23	4649	XP_016870424.1
	XM_017014936.1	23	3588	XP_016870425.1
	AB037853.2	9	2020	BAA92670.2
	AB205401.1	24	3686	BAE16982.1
	AK074150.1	9	1938	BAB84976.1
	BC030576.1	5	869	AAH30576.1
	BC136616.1	24	3686
	BC144296.1	23	3575

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3573095	Chr.9:5721091 - 5789971 on Build GRCh38	Loss	ERMP1 RIC1
nsv1029665	Chr.9:5687332 - 6775107 on Build GRCh38	Gain	MIR4665 ERMP1 KIAA2026 RANBP6 MLANA UHRF2 TPD52L3 GLDC IL33 RIC1 KDM4C

More Information

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

Gene Ontology Categories:

Process(es)

retrograde transport, endosome to Golgi
positive regulation of GTPase activity
negative regulation of cellular protein catabolic process

Function(s)

protein binding
Rab guanyl-nucleotide exchange factor activity
Rab GTPase binding