Hs03873880_cn

• Gene Symbol: BRF1
• Assay Reference Genome Location: Chr.14:105301365 on build GRCh38
• Cytoband: 14q32.33

Target Gene Details

• Entrez Gene ID: 2972
• Gene Name: BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
• Gene Aliases: BRF, BRF-1, CFDS, GTF3B, HEL-S-76p, TAF3B2, TAF3C, TAFIII90, TF3B90, TFIIIB90, hBRF
• Location: Chr.14:105209286-105315577 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BRF1	NM_001242786.1			NP_001229715.1
	NM_001242787.1			NP_001229716.1
	AK294899.1
	AK295579.1

Target Gene Details

• Entrez Gene ID: 23241
• Gene Name: phosphofurin acidic cluster sorting protein 2
• Gene Aliases: PACS-2, PACS1L
• Location: Chr.14:105300811-105398147 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PACS2	NM_001243127.2			NP_001230056.1
	XM_017021111.1			XP_016876600.1
	XM_017021112.1			XP_016876601.1
	BC131591.1
	HY009105.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv566187	Chr.14:105290148 - 105314367 on Build GRCh38	Gain	BRF1 PACS2
esv3635641	Chr.14:105300870 - 105306018 on Build GRCh38	Gain	BRF1 PACS2
nsv1160204	Chr.14:105291411 - 105483783 on Build GRCh38	Duplication	BRF1 TEX22 CRIP2 LOC100507437 MTA1 PACS2
esv2760014	Chr.14:105047009 - 105483089 on Build GRCh38	Loss	BTBD6 BRF1 TEX22 CRIP2 LOC100507437 MIR6765 MTA1 JAG2 LOC102723354 GPR132 PACS2 NUDT14
nsv566186	Chr.14:105209364 - 105312968 on Build GRCh38	Loss	BTBD6 BRF1 PACS2
nsv470679	Chr.14:105124547 - 105605978 on Build GRCh38	Loss	IGHA2 BRF1 CRIP1 CRIP2 IGH MTA1 TMEM121 JAG2 BTBD6 TEX22 C14orf80 LOC105370697 LOC100507437 MIR6765 PACS2 NUDT14
nsv1054574	Chr.14:103210111 - 105365114 on Build GRCh38	Loss	ADSSL1 MIR203B INF2 RD3L LOC105370687 LOC101929634 SIVA1 EIF5 CKB BAG5 LOC105370691 LOC107984648 KLC1 TMEM179 ZFYVE21 CEP170B LOC105378183 AKT1 KIF26A GPR132 CDCA4 ZBTB42 LOC105370708 BRF1 XRCC3 LINC00638 TRMT61A MIR203A SNORA28 C14orf180 MIR4710 JAG2 ASPG LOC102723354 C14orf2 PPP1R13B TDRD9 BTBD6 MARK3 C14orf79 MIR6765 PLD4 LOC388022 LINC00637 PACS2 NUDT14 APOPT1 AHNAK2
esv29986	Chr.14:105240955 - 105366526 on Build GRCh38	Loss	BTBD6 BRF1 PACS2
nsv1054190	Chr.14:105246882 - 105701138 on Build GRCh38	Gain	IGHA2 BRF1 CRIP1 CRIP2 IGH IGHG4 MIR8071-2 MTA1 TMEM121 BTBD6 ELK2AP TEX22 MIR8071-1 C14orf80 LOC105370697 LOC100507437 IGHG2 PACS2
dgv26n68	Chr.14:105251002 - 105377572 on Build GRCh38	Loss	BTBD6 BRF1 PACS2
nsv832889	Chr.14:105285272 - 105406872 on Build GRCh38	Loss	BRF1 TEX22 PACS2
nsv517055	Chr.14:105136282 - 106779068 on Build GRCh38	Gain+Loss	IGHA2 KIAA0125 IGHV3-69-1 IGHV4-31 LOC107987211 CRIP2 MTA1 ADAM6 IGHG1 MIR4537 IGHG3 IGHV3-41 LINC00221 MIR4539 IGHV3-48 IGHG2 LINC00226 IGHA1 MIR4538 IGHV3-30 BRF1 CRIP1 IGH IGHG4 MIR4507 MIR8071-2 IGHM TMEM121 JAG2 IGHD IGHV3-23 BTBD6 ELK2AP TEX22 MIR8071-1 IGHV3-71 C14orf80 LOC105370697 IGHV4-55 LOC100507437 MIR6765 IGHV1-69 PACS2 NUDT14

More Information

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

Panther Classification:

Molecular Function -

general transcription factor

Gene Ontology Categories:

Process(es)

regulation of transcription, DNA-templated
transcription from RNA polymerase III promoter
transcription initiation from RNA polymerase III promoter
rRNA transcription
tRNA transcription
autophagosome assembly
apoptotic process
viral process
protein localization to pre-autophagosomal structure
protein targeting to plasma membrane

Function(s)

zinc ion binding
TBP-class protein binding
ion channel binding