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 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BRF1 | NM_001242786.1 | NP_001229715.1 | ||
NM_001242787.1 | NP_001229716.1 | |||
AK294899.1 | ||||
AK295579.1 |
Target Gene Details
Entrez Gene ID: | 23241 |
Gene Name: | phosphofurin acidic cluster sorting protein 2 |
Gene Aliases: |
PACS-2, PACS1L |
Location: |
Chr.14:105300811-105398147 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PACS2 | NM_001243127.2 | NP_001230056.1 | ||
XM_017021111.1 | XP_016876600.1 | |||
XM_017021112.1 | XP_016876601.1 | |||
BC131591.1 | ||||
HY009105.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv566187 | Chr.14:105290148 - 105314367 on Build GRCh38 | Gain | BRF1 PACS2 |
esv3635641 | Chr.14:105300870 - 105306018 on Build GRCh38 | Gain | BRF1 PACS2 |
nsv1160204 | Chr.14:105291411 - 105483783 on Build GRCh38 | Duplication | CRIP2 MTA1 TEX22 BRF1 LOC100507437 PACS2 |
nsv566186 | Chr.14:105209364 - 105312968 on Build GRCh38 | Loss | BTBD6 BRF1 PACS2 |
esv2760014 | Chr.14:105047009 - 105483089 on Build GRCh38 | Loss | BTBD6 NUDT14 CRIP2 MTA1 JAG2 LOC102723354 TEX22 BRF1 LOC100507437 GPR132 PACS2 MIR6765 |
nsv470679 | Chr.14:105124547 - 105605978 on Build GRCh38 | Loss | BTBD6 TMEM121 JAG2 TEX22 BRF1 CRIP1 IGHA2 LOC105370697 C14orf80 MIR6765 NUDT14 CRIP2 MTA1 LOC100507437 PACS2 IGH |
nsv1054574 | Chr.14:103210111 - 105365114 on Build GRCh38 | Loss | LINC00638 LOC105378183 LOC105370708 SIVA1 ADSSL1 JAG2 TDRD9 MIR6765 ZBTB42 NUDT14 CDCA4 MARK3 TRMT61A LOC107984648 LOC388022 AHNAK2 LOC102723354 C14orf180 MIR203A MIR4710 INF2 AKT1 PACS2 ASPG CEP170B BTBD6 KIF26A C14orf2 KLC1 BRF1 ZFYVE21 RD3L CKB APOPT1 LOC105370691 LINC00637 BAG5 PPP1R13B LOC101929634 EIF5 TMEM179 LOC105370687 C14orf79 GPR132 SNORA28 MIR203B PLD4 XRCC3 |
nsv1054190 | Chr.14:105246882 - 105701138 on Build GRCh38 | Gain | BTBD6 IGHG2 IGHG4 TMEM121 ELK2AP TEX22 BRF1 CRIP1 IGHA2 LOC105370697 C14orf80 CRIP2 MTA1 MIR8071-2 LOC100507437 PACS2 IGH MIR8071-1 |
esv29986 | Chr.14:105240955 - 105366526 on Build GRCh38 | Loss | BTBD6 BRF1 PACS2 |
nsv832889 | Chr.14:105285272 - 105406872 on Build GRCh38 | Loss | TEX22 BRF1 PACS2 |
dgv26n68 | Chr.14:105251002 - 105377572 on Build GRCh38 | Loss | BTBD6 BRF1 PACS2 |
nsv517055 | Chr.14:105136282 - 106779068 on Build GRCh38 | Gain+Loss | MIR4537 IGHV3-41 IGHG2 IGHV3-48 ADAM6 TMEM121 IGHV3-30 JAG2 TEX22 IGHA2 LOC107987211 LOC105370697 MIR4538 IGHV1-69 MIR6765 IGHG1 IGHA1 NUDT14 IGHG3 LINC00221 IGHV4-31 MTA1 IGHM IGHD LOC100507437 IGHV3-71 PACS2 MIR8071-1 BTBD6 LINC00226 MIR4539 IGHG4 ELK2AP MIR4507 BRF1 CRIP1 C14orf80 KIAA0125 CRIP2 IGHV4-55 IGHV3-69-1 MIR8071-2 IGHV3-23 IGH |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |