Hs02160484_cn

• Gene Symbol: MATN4
• Assay Reference Genome Location: Chr.20:45308218 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MATN4	NM_003833.4	2	168	NP_003824.2
	NM_030590.3	1	110	NP_085080.1
	NM_030592.3	1	80	NP_085095.1
	XM_005260597.1	1	349	XP_005260654.1
	XM_017028113.1	2	168	XP_016883602.1
	XM_017028114.1	1	349	XP_016883603.1
	XM_017028115.1	1	349	XP_016883604.1
	AK074593.1	2	168
	AK074595.1	1	82	BAC11081.1
	AK074597.1	1	112	BAC11083.1
	BC141811.1	1	98
	BC151219.1	1	63
	DA970379.1	1	349

Target Gene Details

• Entrez Gene ID: 11317
• Gene Name: recombination signal binding protein for immunoglobulin kappa J region like
• Gene Aliases: RBPL, RBPSUHL, SUHL
• Location: Chr.20:45306836-45319677 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RBPJL	NM_001281448.1			NP_001268377.1
	NM_001281449.1			NP_001268378.1
	NM_014276.3			NP_055091.2
	XM_011528521.2			XP_011526823.1
	XM_011528522.2			XP_011526824.1
	XM_011528523.2			XP_011526825.1
	AB024964.1			BAA88232.1
	AB026048.1			BAA86121.1
	AB027710.1			BAA87051.1
	BM311999.1
	CA950939.1
	DA045470.1	2	180

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	WFDC12 SYS1-DBNDD2 SEMG1 WFDC5 PIGT STK4-AS1 MIR6812 DBNDD2 SYS1 KCNS1 EPPIN-WFDC6 WFDC8 WISP2 KCNK15 RBPJL WFDC6 PI3 PABPC1L WFDC2 EPPIN WFDC9 STK4 KCNK15-AS1 YWHAB SLPI RIMS4 SPINT3 TP53TG5 SEMG2 WFDC10A SDC4 TOMM34 MATN4

More Information

Additional Information:

For this assay, SNP(s) [rs115744323] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

extracellular matrix structural protein, DNA-binding transcription factor

Gene Ontology Categories:

Process(es)

extracellular matrix organization
transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
signal transduction
positive regulation of transcription, DNA-templated

Function(s)

calcium ion binding
protein binding
RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding
chromatin binding
transcription factor activity, sequence-specific DNA binding