Hs01899605_cn

• Gene Symbol: MATN4
• Assay Reference Genome Location: Chr.20:45298218 on build GRCh38
• Cytoband: 20q13.12

Target Gene Details

• Entrez Gene ID: 8785
• Gene Name: matrilin 4
• Gene Aliases: -
• Location: Chr.20:45293446-45308566 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MATN4	NM_003833.4	8	1623	NP_003824.2
	NM_030590.3	6	1442	NP_085080.1
	NM_030592.3	5	1289	NP_085095.1
	XM_005260597.1	7	1804	XP_005260654.1
	XM_017028113.1	8	1623	XP_016883602.1
	XM_017028114.1	6	1681	XP_016883603.1
	XM_017028115.1	5	1558	XP_016883604.1
	AJ007581.1	6	1387	CAA07569.1
	AK027323.1	2	479
	AK074495.1	4	821
	AK074593.1	9	1623
	AK074595.1	6	1359	BAC11081.1
	AK074597.1	6	1444	BAC11083.1
	BC131763.1	6	1391
	BC141811.1	6	1430
	BC151219.1	7	1518

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1056815	Chr.20:45257396 - 45314077 on Build GRCh38	Loss	MATN4 RBPJL
nsv1056102	Chr.20:44673341 - 45636248 on Build GRCh38	Loss	WFDC6 KCNS1 KCNK15 WFDC12 WFDC2 WFDC8 EPPIN KCNK15-AS1 MATN4 STK4 TP53TG5 RBPJL TOMM34 YWHAB PI3 SEMG1 SDC4 WISP2 PABPC1L SPINT3 SYS1-DBNDD2 EPPIN-WFDC6 RIMS4 WFDC10A SYS1 WFDC9 SEMG2 MIR6812 PIGT DBNDD2 SLPI STK4-AS1 WFDC5
nsv1057759	Chr.20:45283246 - 45307625 on Build GRCh38	Gain	MATN4 RBPJL

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

extracellular matrix structural protein

Gene Ontology Categories:

Process(es)

extracellular matrix organization

Function(s)

calcium ion binding
protein binding