Assay Details
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 |
---|---|---|---|
nsv566186 | Chr.14:105209364 - 105312968 on Build GRCh38 | Loss | PACS2 BRF1 BTBD6 |
esv2760014 | Chr.14:105047009 - 105483089 on Build GRCh38 | Loss | MTA1 PACS2 LOC102723354 BRF1 LOC100507437 BTBD6 NUDT14 JAG2 GPR132 MIR6765 TEX22 CRIP2 |
nsv510651 | Chr.14:105190545 - 105258818 on Build GRCh38 | Deletion | BRF1 BTBD6 |
nsv470679 | Chr.14:105124547 - 105605978 on Build GRCh38 | Loss | MTA1 IGH LOC100507437 BTBD6 NUDT14 C14orf80 CRIP2 IGHA2 CRIP1 PACS2 BRF1 TMEM121 JAG2 LOC105370697 MIR6765 TEX22 |
nsv9175 | Chr.14:105030172 - 105222604 on Build GRCh38 | Gain | LOC102723354 BRF1 NUDT14 JAG2 GPR132 MIR6765 |
nsv952279 | Chr.14:105136864 - 105237863 on Build GRCh38 | Deletion | BRF1 NUDT14 JAG2 MIR6765 |
nsv566185 | Chr.14:105194429 - 105219528 on Build GRCh38 | Loss | BRF1 |
dgv3977n54 | Chr.14:105149311 - 105219528 on Build GRCh38 | Loss | BRF1 NUDT14 JAG2 MIR6765 |
nsv1054574 | Chr.14:103210111 - 105365114 on Build GRCh38 | Loss | TDRD9 CEP170B BAG5 MIR203B LOC105370691 NUDT14 LOC105378183 XRCC3 KIF26A PLD4 LOC107984648 PPP1R13B C14orf79 SIVA1 LOC105370687 MARK3 SNORA28 APOPT1 LOC388022 ZFYVE21 LOC101929634 LOC102723354 BRF1 INF2 CDCA4 AKT1 LOC105370708 TRMT61A MIR6765 ADSSL1 EIF5 AHNAK2 KLC1 BTBD6 TMEM179 LINC00637 ASPG MIR4710 LINC00638 RD3L PACS2 ZBTB42 JAG2 MIR203A C14orf2 CKB C14orf180 GPR132 |
nsv1052190 | Chr.14:104957424 - 105256316 on Build GRCh38 | Gain | AHNAK2 LOC102723354 BRF1 BTBD6 NUDT14 JAG2 CDCA4 GPR132 MIR6765 C14orf79 |
nsv517055 | Chr.14:105136282 - 106779068 on Build GRCh38 | Gain+Loss | IGHV1-69 MIR4507 MTA1 LOC107987211 IGHA1 ELK2AP IGHV3-71 IGHV3-41 NUDT14 IGHV4-31 C14orf80 CRIP2 IGHV3-69-1 IGHA2 CRIP1 MIR4537 ADAM6 IGHD BRF1 TMEM121 LOC105370697 IGHM IGHV3-30 MIR6765 TEX22 KIAA0125 IGHV3-48 MIR4538 MIR8071-1 IGH LOC100507437 BTBD6 IGHG3 MIR8071-2 LINC00226 IGHV3-23 IGHV4-55 PACS2 IGHG4 LINC00221 JAG2 MIR4539 IGHG2 IGHG1 |
nsv566150 | Chr.14:104969312 - 105223755 on Build GRCh38 | Loss | AHNAK2 LOC102723354 BRF1 NUDT14 JAG2 CDCA4 GPR132 MIR6765 C14orf79 |
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 |