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