Assay Details
Target Gene Details
Entrez Gene ID: | 5252 |
Gene Name: | PHD finger protein 1 |
Gene Aliases: |
MTF2L2, PCL1, PHF2, TDRD19C, hPHF1 |
Location: |
Chr.6:33410751-33416453 on Build GRCh38 |
Assay Gene Location: | Within Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PHF1 | NM_002636.4 | 14 | 1809 | NP_002627.1 |
NM_024165.2 | 15 | 1915 | NP_077084.1 | |
NR_027692.1 | 15 | 1904 | ||
XM_011514662.1 | 15 | 1832 | XP_011512964.1 | |
XM_011514663.1 | 15 | 1829 | XP_011512965.1 | |
XM_011514664.1 | 14 | 1736 | XP_011512966.1 | |
XM_011514665.1 | 15 | 1852 | XP_011512967.1 | |
XM_011514666.1 | 15 | 1849 | XP_011512968.1 | |
XM_011514669.1 | 14 | 1642 | XP_011512971.1 | |
XM_017010939.1 | 13 | 1520 | XP_016866428.1 | |
AF029678.1 | 14 | 1629 | AAC52062.1 | |
AF052205.1 | 15 | 1731 | AAC13273.1 | |
AK225913.1 | 14 | 1917 | ||
BC008834.2 | 15 | 1883 | AAH08834.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv830637 | Chr.6:33361588 - 33542927 on Build GRCh38 | Loss | ZBTB9 KIFC1 SYNGAP1 PHF1 MIR5004 CUTA |
nsv830635 | Chr.6:33270228 - 33446010 on Build GRCh38 | Loss | VPS52 SYNGAP1 PHF1 B3GALT4 MIR5004 PFDN6 CUTA RPS18 TAPBP DAXX ZBTB22 KIFC1 MIR6834 WDR46 MIR6873 RGL2 |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | EHMT2 BTNL2 HLA-DRB6 HLA-DRB5 CUTA RPS18 GPANK1 HLA-DPB2 ATP6V1G2-DDX39B HLA-DPB1 MIR6832 HSD17B8 NCR3 ZBTB12 CYP21A2 LY6G5B MIR4646 LY6G6F NELFE RXRB ZBTB9 C2-AS1 STK19 RNF5 VWA7 SLC44A4 PSMB9 LTA C6orf47 PPP1R2P1 HLA-DRB1 MIR6721 HLA-DPA1 EGFL8 SNORD48 NEU1 HLA-DQA2 TNXB CSNK2B TNF LY6G6D HSPA1A RING1 NFKBIL1 PPT2-EGFL8 CYP21A1P LY6G6C WDR46 BRD2 HCG24 HLA-DQB1 PPT2 SYNGAP1 MIR3135B DXO CFB TAP2 ATF6B SKIV2L HSPA1L HLA-DMA AIF1 HCP5 TAP1 SNORD84 HLA-DRA HLA-DOB HLA-DQB1-AS1 PBX2 LTB MCCD1 HLA-DMB SAPCD1 SNORD52 C6orf10 LOC102725068 PRRT1 DDX39B DAXX KIFC1 LY6G5C DDAH2 LOC100287329 SNORA38 HLA-DOA GPSM3 MIR219A1 LSM2 RGL2 HCG25 LY6G6E C4B PRRC2A MIR1236 PSMB8-AS1 PHF1 SAPCD1-AS1 C6orf25 PFDN6 HLA-DQB2 VARS ABHD16A C4A APOM TAPBP CLIC1 ZBTB22 SNORD117 MIR6834 C2 HCG26 NOTCH4 VPS52 ATP6V1G2 B3GALT4 LOC100294145 SLC39A7 PSMB8 TNXA BAG6 HSPA1B LST1 MIR6833 DDX39B-AS1 C6orf48 COL11A2 MSH5-SAPCD1 MICB AGER MSH5 MIR5004 AGPAT1 LOC101929163 FKBPL HLA-DQA1 HCG23 LOC100507547 MIR6873 |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | EHMT2 BTNL2 HLA-DRB6 HLA-DRB5 CUTA RPS18 GPANK1 HLA-DPB2 ATP6V1G2-DDX39B HLA-DPB1 MIR6832 HSD17B8 NCR3 ZBTB12 CYP21A2 LY6G5B MIR4646 LY6G6F NELFE RXRB ZBTB9 C2-AS1 STK19 RNF5 VWA7 SLC44A4 PSMB9 LTA C6orf47 PPP1R2P1 HLA-DRB1 MIR6721 HLA-DPA1 EGFL8 SNORD48 NEU1 HLA-DQA2 TNXB CSNK2B TNF LY6G6D HSPA1A RING1 NFKBIL1 PPT2-EGFL8 CYP21A1P LY6G6C WDR46 BRD2 HCG24 HLA-DQB1 PPT2 SYNGAP1 MIR3135B DXO CFB TAP2 ATF6B SKIV2L HSPA1L HLA-DMA AIF1 HCP5 TAP1 SNORD84 HLA-DRA HLA-DOB HLA-DQB1-AS1 PBX2 LTB MCCD1 HLA-DMB SAPCD1 SNORD52 C6orf10 LOC102725068 PRRT1 DDX39B DAXX KIFC1 LY6G5C DDAH2 LOC100287329 SNORA38 HLA-DOA GPSM3 MIR219A1 LSM2 RGL2 HCG25 LY6G6E C4B PRRC2A MIR1236 PSMB8-AS1 PHF1 SAPCD1-AS1 C6orf25 PFDN6 HLA-DQB2 VARS ABHD16A C4A APOM TAPBP CLIC1 ZBTB22 SNORD117 MIR6834 C2 HCG26 NOTCH4 VPS52 ATP6V1G2 B3GALT4 LOC100294145 SLC39A7 PSMB8 TNXA BAG6 HSPA1B LST1 MIR6833 DDX39B-AS1 C6orf48 COL11A2 MSH5-SAPCD1 MICB AGER MSH5 MIR5004 AGPAT1 LOC101929163 FKBPL HLA-DQA1 HCG23 LOC100507547 MIR6873 |
nsv602832 | Chr.6:33414464 - 33552444 on Build GRCh38 | Loss | ZBTB9 SYNGAP1 PHF1 MIR5004 CUTA |
nsv1119076 | Chr.6:32595823 - 33480623 on Build GRCh38 | Deletion | VPS52 HLA-DQA2 HLA-DMB B3GALT4 CUTA LOC100294145 RPS18 SLC39A7 RING1 PSMB8 HLA-DPB2 DAXX KIFC1 HLA-DPB1 WDR46 HSD17B8 BRD2 HLA-DOA MIR219A1 RGL2 COL11A2 HCG24 HCG25 RXRB ZBTB9 HLA-DQB1 PSMB8-AS1 SYNGAP1 PHF1 MIR5004 MIR3135B PFDN6 HLA-DQB2 TAP2 PSMB9 HLA-DMA TAPBP ZBTB22 TAP1 HLA-DQA1 MIR6834 PPP1R2P1 HLA-DOB MIR6873 HLA-DPA1 HLA-DQB1-AS1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |