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