Hs00360310_cn

• Gene Symbol: MATN4
• Assay Reference Genome Location: Chr.20:45301219 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: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MATN4	NM_003833.4			NP_003824.2
	NM_030590.3			NP_085080.1
	NM_030592.3			NP_085095.1
	XM_005260597.1			XP_005260654.1
	XM_017028113.1			XP_016883602.1
	XM_017028114.1			XP_016883603.1
	XM_017028115.1			XP_016883604.1
	AJ007581.1			CAA07569.1
	AK074495.1
	AK074593.1
	AK074595.1			BAC11081.1
	AK074597.1			BAC11083.1
	BC131763.1
	BC141811.1
	BC151219.1

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

More Information

• Set Membership: Intragenic, Non-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