Hs02067858_cn

• Gene Symbol: BRF1
• Assay Reference Genome Location: Chr.14:105250805 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 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BRF1	NM_001242786.1			NP_001229715.1
	NM_001242787.1			NP_001229716.1
	NM_001242788.1			NP_001229717.1
	NM_001519.3			NP_001510.2
	XM_005267561.3			XP_005267618.1
	XM_011536672.2			XP_011534974.1
	XM_011536673.1			XP_011534975.1
	AK294899.1
	AK295579.1
	BC086856.1			AAH86856.1
	U28838.1			AAC50170.1
	U75276.1			AAB38876.1

Target Gene Details

• Entrez Gene ID: 90135
• Gene Name: BTB domain containing 6
• Gene Aliases: BDPL
• Location: Chr.14:105248542-105251093 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BTBD6	NM_033271.2	5	1699	NP_150374.2
	XM_005268188.3	4	1867	XP_005268245.1
	AF086420.1	1	130
	AF173358.1	1	1439	AAF36536.1
	AF353674.1	4	1563	AAK39520.1
	BC006414.1	1	486	AAH06414.1
	BC042525.1	5	1669	AAH42525.1
	BU730253.1	1	303

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2760014	Chr.14:105047009 - 105483089 on Build GRCh38	Loss	PACS2 BRF1 MTA1 JAG2 LOC102723354 TEX22 NUDT14 LOC100507437 CRIP2 BTBD6 GPR132 MIR6765
nsv566186	Chr.14:105209364 - 105312968 on Build GRCh38	Loss	PACS2 BRF1 BTBD6
nsv470679	Chr.14:105124547 - 105605978 on Build GRCh38	Loss	IGHA2 TMEM121 BRF1 MTA1 JAG2 TEX22 NUDT14 LOC100507437 CRIP2 C14orf80 MIR6765 PACS2 CRIP1 LOC105370697 BTBD6 IGH
nsv510651	Chr.14:105190545 - 105258818 on Build GRCh38	Deletion	BRF1 BTBD6
nsv1054574	Chr.14:103210111 - 105365114 on Build GRCh38	Loss	APOPT1 BRF1 SIVA1 BAG5 NUDT14 ADSSL1 LINC00637 LOC105370708 KIF26A LINC00638 PACS2 AKT1 LOC105370691 LOC107984648 KLC1 LOC388022 AHNAK2 MIR203B ASPG EIF5 GPR132 PPP1R13B SNORA28 TRMT61A TDRD9 JAG2 MARK3 ZBTB42 CKB C14orf2 MIR203A CEP170B RD3L MIR6765 XRCC3 MIR4710 C14orf180 PLD4 ZFYVE21 LOC102723354 INF2 LOC101929634 LOC105370687 C14orf79 LOC105378183 BTBD6 CDCA4 TMEM179
nsv1054190	Chr.14:105246882 - 105701138 on Build GRCh38	Gain	IGHA2 TMEM121 BRF1 MTA1 TEX22 LOC100507437 CRIP2 C14orf80 ELK2AP PACS2 CRIP1 IGHG2 MIR8071-1 LOC105370697 IGHG4 MIR8071-2 BTBD6 IGH
nsv1052190	Chr.14:104957424 - 105256316 on Build GRCh38	Gain	BRF1 JAG2 LOC102723354 AHNAK2 NUDT14 C14orf79 BTBD6 GPR132 CDCA4 MIR6765
esv29986	Chr.14:105240955 - 105366526 on Build GRCh38	Loss	PACS2 BRF1 BTBD6
nsv517055	Chr.14:105136282 - 106779068 on Build GRCh38	Gain+Loss	IGHA2 BRF1 LOC107987211 LINC00226 IGHM MIR4507 NUDT14 LINC00221 IGHV4-31 IGHV3-48 CRIP2 C14orf80 IGHV3-69-1 PACS2 IGHA1 MIR8071-2 IGHV1-69 MIR4537 IGH ADAM6 IGHV3-71 MIR4539 TMEM121 MTA1 JAG2 IGHV3-30 TEX22 IGHV3-23 LOC100507437 ELK2AP IGHG1 MIR6765 CRIP1 IGHG2 MIR4538 IGHD MIR8071-1 LOC105370697 IGHG4 KIAA0125 IGHV4-55 IGHV3-41 BTBD6 IGHG3

More Information

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

Panther Classification:

Molecular Function -

general transcription factor, ubiquitin-protein ligase

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
neurogenesis
regulation of proteolysis
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
proteasome-mediated ubiquitin-dependent protein catabolic process

Function(s)

zinc ion binding
TBP-class protein binding
ubiquitin protein ligase binding