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 | 2706 | NP_001229715.1 |
NM_001242787.1 | 18 | 2640 | NP_001229716.1 | |
NM_001242788.1 | 17 | 2850 | NP_001229717.1 | |
NM_001242789.1 | 13 | 2130 | NP_001229718.1 | |
NM_001519.3 | 18 | 2931 | NP_001510.2 | |
NM_145685.2 | 14 | 2839 | NP_663718.1 | |
XM_005267561.3 | 18 | 2950 | XP_005267618.1 | |
XM_005267563.3 | 14 | 3643 | XP_005267620.1 | |
XM_006720123.2 | 13 | 3071 | XP_006720186.1 | |
XM_011536673.1 | 17 | 2803 | XP_011534975.1 | |
XM_011536674.1 | 14 | 3221 | XP_011534976.1 | |
AJ297406.1 | CAC04512.1 | |||
AJ297407.1 | 14 | 2847 | CAC04513.1 | |
AK096471.1 | 13 | 2130 | ||
AK124665.1 | 8 | 1995 | ||
AK125024.1 | 5 | 2445 | BAC86024.1 | |
AK126499.1 | 1 | 2940 | ||
BC071637.1 | 13 | 1995 | AAH71637.1 | |
BC086856.1 | 17 | 2583 | AAH86856.1 | |
BC103859.1 | AAI03860.1 | |||
BC103860.2 | AAI03861.1 | |||
BC103861.2 | AAI03862.1 | |||
BC133655.1 | ||||
U28838.1 | 18 | 2928 | AAC50170.1 | |
U75276.1 | 18 | 2635 | 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 | CRIP2 PACS2 MIR6765 BRF1 JAG2 LOC100507437 TEX22 BTBD6 GPR132 MTA1 LOC102723354 NUDT14 |
nsv510651 | Chr.14:105190545 - 105258818 on Build GRCh38 | Deletion | BRF1 BTBD6 |
nsv470679 | Chr.14:105124547 - 105605978 on Build GRCh38 | Loss | CRIP1 CRIP2 C14orf80 IGHA2 BRF1 LOC100507437 TEX22 IGH PACS2 TMEM121 MIR6765 JAG2 BTBD6 MTA1 LOC105370697 NUDT14 |
nsv9175 | Chr.14:105030172 - 105222604 on Build GRCh38 | Gain | MIR6765 BRF1 JAG2 GPR132 LOC102723354 NUDT14 |
nsv952279 | Chr.14:105136864 - 105237863 on Build GRCh38 | Deletion | MIR6765 BRF1 JAG2 NUDT14 |
nsv566185 | Chr.14:105194429 - 105219528 on Build GRCh38 | Loss | BRF1 |
dgv3977n54 | Chr.14:105149311 - 105219528 on Build GRCh38 | Loss | MIR6765 BRF1 JAG2 NUDT14 |
nsv1054574 | Chr.14:103210111 - 105365114 on Build GRCh38 | Loss | TRMT61A LOC105370691 C14orf180 LOC105378183 LOC388022 ASPG CEP170B LINC00637 LOC107984648 PACS2 INF2 RD3L APOPT1 AKT1 BTBD6 GPR132 LINC00638 LOC101929634 CDCA4 CKB MIR203B MARK3 C14orf79 ZFYVE21 ZBTB42 TMEM179 AHNAK2 LOC105370687 BRF1 EIF5 MIR4710 PPP1R13B SIVA1 BAG5 MIR203A XRCC3 MIR6765 TDRD9 KIF26A JAG2 C14orf2 KLC1 LOC102723354 ADSSL1 LOC105370708 SNORA28 PLD4 NUDT14 |
nsv1052190 | Chr.14:104957424 - 105256316 on Build GRCh38 | Gain | C14orf79 AHNAK2 MIR6765 BRF1 JAG2 BTBD6 GPR132 CDCA4 LOC102723354 NUDT14 |
nsv517055 | Chr.14:105136282 - 106779068 on Build GRCh38 | Gain+Loss | MIR4537 IGHV3-48 IGHV3-23 CRIP2 IGHG1 IGHD ADAM6 IGHA2 IGHG3 LOC100507437 IGHM KIAA0125 IGHV4-55 MIR4507 IGH PACS2 TMEM121 MIR8071-2 MIR8071-1 ELK2AP BTBD6 MTA1 LOC105370697 IGHV3-41 IGHV3-30 CRIP1 C14orf80 BRF1 TEX22 LINC00226 IGHG2 IGHV4-31 LOC107987211 IGHV1-69 IGHV3-71 MIR4538 IGHV3-69-1 MIR6765 LINC00221 IGHA1 JAG2 IGHG4 MIR4539 NUDT14 |
nsv566150 | Chr.14:104969312 - 105223755 on Build GRCh38 | Loss | C14orf79 AHNAK2 MIR6765 BRF1 JAG2 GPR132 CDCA4 LOC102723354 NUDT14 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |