Hs01786463_cn

• Gene Symbol: FAM213B
• Assay Reference Genome Location: Chr.1:2590833 on build GRCh38
• Cytoband: 1p36.32

Target Gene Details

• Entrez Gene ID: 127281
• Gene Name: family with sequence similarity 213 member B
• Gene Aliases: C1orf93
• Location: Chr.1:2586460-2591469 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAM213B	NM_001195736.1	7	2193	NP_001182665.1
	NM_001195737.1	7	2127	NP_001182666.1
	NM_001195738.1	7	2107	NP_001182667.1
	NM_001195740.1	6	2031	NP_001182669.1
	NM_001195741.1	6	2028	NP_001182670.1
	NM_152371.3	7	2139	NP_689584.2
	NR_036637.1	7	2072
	NR_036638.1	7	2040
	XM_006710354.3	7	2127	XP_006710417.1
	XM_011540664.1	7	2183	XP_011538966.1
	XM_011540665.1	7	2151	XP_011538967.1
	XM_011540666.1	7	2131	XP_011538968.1
	AF425266.1	7	2083	AAP97295.1
	AK057027.1	7	2124
	AK075273.1	7	2059	BAC11511.1
	AK094901.1	6	1941
	BC022547.1	7	2079	AAH22547.1
	BM976058.1
	CR749706.1	2	1871

Target Gene Details

• Entrez Gene ID: 79258
• Gene Name: membrane metallo-endopeptidase-like 1
• Gene Aliases: MMEL2, NEP2, NEPII, NL1, NL2, SEP
• Location: Chr.1:2590639-2633042 on Build GRCh38
• Assay Gene Location: Within Exon 26

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MMEL1	NM_033467.3	24	2711	NP_258428.2
	XM_011542122.2	17	1814	XP_011540424.1
	XM_017002310.1	25	2977	XP_016857799.1
	XM_017002311.1	24	2657	XP_016857800.1
	XM_017002312.1	23	2629	XP_016857801.1
	XM_017002313.1	23	2615	XP_016857802.1
	XM_017002314.1	23	2582	XP_016857803.1
	XM_017002315.1	24	2587	XP_016857804.1
	AF336981.1	23	2534	AAL08942.1
	AK093058.1	24	2659

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv829648	Chr.1:2567689 - 2640901 on Build GRCh38	Loss	LOC100996583 FAM213B MMEL1 TTC34
esv3582248	Chr.1:2569899 - 2636548 on Build GRCh38	Gain	LOC100996583 FAM213B MMEL1
nsv545077	Chr.1:2428542 - 2622185 on Build GRCh38	Gain	LOC100996583 FAM213B HES5 MMEL1 PLCH2 TNFRSF14 LOC115110 PANK4
nsv545082	Chr.1:2536231 - 2597243 on Build GRCh38	Loss	LOC100996583 FAM213B MMEL1 TNFRSF14 LOC115110
nsv470684	Chr.1:2394570 - 2930923 on Build GRCh38	Loss	LOC100996583 FAM213B HES5 MMEL1 PEX10 TTC34 PLCH2 TNFRSF14 LOC115110 PANK4 RER1
nsv545083	Chr.1:2575976 - 2653099 on Build GRCh38	Gain	LOC100996583 FAM213B MMEL1 TTC34
nsv951592	Chr.1:2564862 - 2613961 on Build GRCh38	Deletion	LOC100996583 FAM213B MMEL1 TNFRSF14

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

prostaglandin biosynthetic process
oxidation-reduction process
proteolysis

Function(s)

oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
prostaglandin-F synthase activity
metalloendopeptidase activity
metal ion binding