Hs00744419_cn

• Gene Symbol: BRF1
• Assay Reference Genome Location: Chr.14:105209695 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 Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BRF1	NM_001242786.1	18	3028	NP_001229715.1
	NM_001242787.1	18	2962	NP_001229716.1
	NM_001242788.1	17	3172	NP_001229717.1
	NM_001242789.1	13	2452	NP_001229718.1
	NM_001519.3	18	3253	NP_001510.2
	NM_145685.2	14	3161	NP_663718.1
	XM_005267561.3	18	3272	XP_005267618.1
	XM_005267563.3	14	3965	XP_005267620.1
	XM_006720123.2	13	3393	XP_006720186.1
	XM_011536673.1	17	3125	XP_011534975.1
	XM_011536674.1	14	3543	XP_011534976.1
	AJ297406.1			CAC04512.1
	AJ297407.1	14	3169	CAC04513.1
	AK096471.1	13	2452
	AK124665.1	8	2317
	AK125024.1	5	2767	BAC86024.1
	AK126499.1	1	3262
	BC071637.1	13	2317	AAH71637.1
	BC086856.1	17	2905	AAH86856.1
	BC103859.1			AAI03860.1
	BC103860.2			AAI03861.1
	BC103861.2			AAI03862.1
	BC133655.1
	U28838.1	18	3250	AAC50170.1
	U75276.1	18	2957	AAB38876.1

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	BRF1 JAG2 BTBD6 LOC100507437 TEX22 MTA1 PACS2 NUDT14 MIR6765 CRIP2 LOC102723354 GPR132
nsv566186	Chr.14:105209364 - 105312968 on Build GRCh38	Loss	BRF1 BTBD6 PACS2
nsv470679	Chr.14:105124547 - 105605978 on Build GRCh38	Loss	BRF1 CRIP1 BTBD6 LOC100507437 LOC105370697 MTA1 MIR6765 CRIP2 JAG2 IGH IGHA2 TEX22 PACS2 NUDT14 C14orf80 TMEM121
nsv510651	Chr.14:105190545 - 105258818 on Build GRCh38	Deletion	BRF1 BTBD6
nsv9175	Chr.14:105030172 - 105222604 on Build GRCh38	Gain	BRF1 JAG2 NUDT14 MIR6765 LOC102723354 GPR132
nsv952279	Chr.14:105136864 - 105237863 on Build GRCh38	Deletion	BRF1 JAG2 NUDT14 MIR6765
dgv267n27	Chr.14:105149311 - 105219528 on Build GRCh38	Loss	BRF1 JAG2 NUDT14 MIR6765
nsv566185	Chr.14:105194429 - 105219528 on Build GRCh38	Loss	BRF1
nsv1054574	Chr.14:103210111 - 105365114 on Build GRCh38	Loss	PLD4 BRF1 SIVA1 LOC105370708 ADSSL1 LINC00638 MIR6765 TRMT61A CEP170B LOC101929634 C14orf79 LOC105378183 LOC107984648 ASPG BAG5 INF2 XRCC3 APOPT1 MIR203B KLC1 NUDT14 RD3L AKT1 C14orf180 C14orf2 LOC388022 MIR4710 SNORA28 EIF5 BTBD6 MARK3 AHNAK2 ZBTB42 TDRD9 LOC102723354 MIR203A LINC00637 CDCA4 TMEM179 KIF26A LOC105370687 JAG2 ZFYVE21 PPP1R13B CKB PACS2 GPR132 LOC105370691
nsv1052190	Chr.14:104957424 - 105256316 on Build GRCh38	Gain	CDCA4 BRF1 JAG2 BTBD6 AHNAK2 NUDT14 MIR6765 C14orf79 LOC102723354 GPR132
nsv456458	Chr.14:104969312 - 105223755 on Build GRCh38	Loss	CDCA4 BRF1 JAG2 AHNAK2 NUDT14 MIR6765 C14orf79 LOC102723354 GPR132
nsv517055	Chr.14:105136282 - 106779068 on Build GRCh38	Gain+Loss	IGHA1 IGHG3 BRF1 MIR4537 MIR4507 IGHG4 LOC105370697 IGHV1-69 MTA1 MIR6765 CRIP2 ELK2AP LINC00221 IGHV4-31 ADAM6 IGHV3-30 IGH IGHV3-41 NUDT14 C14orf80 IGHD MIR4538 CRIP1 IGHV3-71 BTBD6 LOC100507437 IGHV4-55 IGHV3-69-1 IGHM MIR4539 MIR8071-1 MIR8071-2 LOC107987211 JAG2 KIAA0125 IGHV3-48 LINC00226 IGHV3-23 IGHA2 TEX22 PACS2 IGHG2 TMEM121 IGHG1

More Information

Additional Information:

For this assay, SNP(s) [rs193081985] 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, 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

Function(s)

zinc ion binding
TBP-class protein binding