Hs01783985_cn

• Gene Symbol: B4GALNT4
• Assay Reference Genome Location: Chr.11:380322 on build GRCh38
• Cytoband: 11p15.5

Target Gene Details

• Entrez Gene ID: 338707
• Gene Name: beta-1,4-N-acetyl-galactosaminyltransferase 4
• Gene Aliases: -
• Location: Chr.11:369773-382117 on Build GRCh38
• Assay Gene Location: Overlaps Intron 18 - Exon 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
B4GALNT4	NM_178537.4			NP_848632.2
	XM_017017654.1			XP_016873143.1
	AB089939.1			BAD06471.1
	AK057774.1			BAB71566.1
	BC131528.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv527327	Chr.11:295343 - 620599 on Build GRCh38	Loss	IFITM3 IFITM2 MIR210 IFITM1 LRRC56 LMNTD2 PKP3 PGGHG HRAS MIR210HG SIGIRR PTDSS2 IRF7 B4GALNT4 RASSF7 ANO9 LOC101059906 LOC143666 IFITM5 CDHR5 RNH1 PHRF1
nsv469923	Chr.11:378188 - 1302334 on Build GRCh38	Loss	SNORA52 EPS8L2 PIDD1 MIR210 LRRC56 MIR6744 PANO1 LMNTD2 DRD4 HRAS MIR210HG SIGIRR TALDO1 PTDSS2 TSPAN4 IRF7 CD151 B4GALNT4 MUC5B MUC2 AP2A2 ANO9 LOC143666 PDDC1 MUC5AC SCT PNPLA2 CEND1 SLC25A22 CRACR2B PKP3 TMEM80 TOLLIP LOC101927503 LOC171391 RPLP2 DEAF1 CHID1 RASSF7 MUC6 POLR2L LOC101059906 CDHR5 RNH1 PHRF1
nsv552776	Chr.11:366710 - 432436 on Build GRCh38	Loss	SIGIRR B4GALNT4 PKP3 ANO9
esv28392	Chr.11:363975 - 403432 on Build GRCh38	Gain+Loss	B4GALNT4 PKP3
nsv951268	Chr.11:368601 - 503700 on Build GRCh38	Deletion	SIGIRR PTDSS2 B4GALNT4 PKP3 ANO9 RNH1
nsv552770	Chr.11:356090 - 444628 on Build GRCh38	Gain	SIGIRR B4GALNT4 PKP3 ANO9
dgv1505n54	Chr.11:198510 - 470331 on Build GRCh38	Gain	NLRP6 IFITM3 IFITM2 IFITM1 PSMD13 SIRT3 PKP3 PGGHG RIC8A ODF3 SIGIRR PTDSS2 B4GALNT4 MIR6743 ANO9 IFITM5 BET1L
nsv1159790	Chr.11:340219 - 491334 on Build GRCh38	Deletion	SIGIRR PTDSS2 B4GALNT4 PKP3 ANO9
dgv182e199	Chr.11:349830 - 943372 on Build GRCh38	Deletion	SNORA52 EPS8L2 PIDD1 MIR210 LRRC56 PANO1 LMNTD2 DRD4 HRAS MIR210HG SIGIRR TALDO1 PTDSS2 TSPAN4 IRF7 CD151 B4GALNT4 AP2A2 ANO9 LOC143666 PDDC1 SCT PNPLA2 CEND1 SLC25A22 CRACR2B PKP3 TMEM80 LOC171391 RPLP2 DEAF1 CHID1 RASSF7 POLR2L LOC101059906 CDHR5 RNH1 PHRF1
dgv1507n54	Chr.11:368778 - 382912 on Build GRCh38	Loss	B4GALNT4

More Information

Additional Information:

For this assay, SNP(s) [rs117291242] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Function(s)

acetylgalactosaminyltransferase activity
N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity