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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PHF1 | NM_002636.4 | 6 | 721 | NP_002627.1 |
NM_024165.2 | 6 | 721 | NP_077084.1 | |
NR_027692.1 | 6 | 721 | ||
XM_011514662.1 | 6 | 638 | XP_011512964.1 | |
XM_011514663.1 | 6 | 638 | XP_011512965.1 | |
XM_011514664.1 | 6 | 638 | XP_011512966.1 | |
XM_011514665.1 | 6 | 638 | XP_011512967.1 | |
XM_011514666.1 | 6 | 638 | XP_011512968.1 | |
XM_011514669.1 | 6 | 638 | XP_011512971.1 | |
XM_011514670.2 | 6 | 638 | XP_011512972.1 | |
XM_017010939.1 | 5 | 433 | XP_016866428.1 | |
AF029678.1 | 6 | 541 | AAC52062.1 | |
AF052205.1 | 6 | 537 | AAC13273.1 | |
AK225913.1 | 6 | 545 | ||
AK295412.1 | 6 | 591 | ||
AK299162.1 | 3 | 220 | ||
AK316499.1 | 6 | 672 | ||
BC008834.2 | 6 | 689 | 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 | PHF1 MIR5004 CUTA KIFC1 SYNGAP1 ZBTB9 |
nsv830635 | Chr.6:33270228 - 33446010 on Build GRCh38 | Loss | PHF1 MIR6873 CUTA KIFC1 DAXX MIR6834 VPS52 ZBTB22 WDR46 B3GALT4 MIR5004 PFDN6 RGL2 TAPBP SYNGAP1 RPS18 |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | HCG25 SKIV2L RXRB TNXB HLA-DPA1 HSD17B8 NCR3 MIR219A1 HLA-DRB6 SNORD48 C6orf10 MIR6834 ZBTB9 MIR4646 PRRT1 C6orf25 GPSM3 HLA-DQB2 HLA-DMA HCP5 TAP1 NEU1 FKBPL ATP6V1G2 SLC39A7 HCG23 LOC100507547 HLA-DOB SAPCD1 HLA-DQA1 SAPCD1-AS1 C2-AS1 LY6G6E HLA-DQB1 PPT2 PSMB8-AS1 BRD2 CFB RNF5 PBX2 KIFC1 HLA-DQA2 ABHD16A LY6G6F ZBTB22 CSNK2B ATF6B MIR6721 PFDN6 MIR6833 AIF1 HLA-DQB1-AS1 TNF AGPAT1 PHF1 ZBTB12 DDX39B-AS1 LY6G6C PPT2-EGFL8 C6orf48 BTNL2 TAP2 RGL2 MSH5 C2 TAPBP C4A CYP21A2 LST1 HCG26 MIR1236 MCCD1 LY6G6D HLA-DPB1 AGER PRRC2A TNXA HSPA1A HLA-DRB1 LOC100294145 MIR5004 RING1 MIR3135B LOC101929163 PSMB8 HLA-DOA VWA7 C4B HLA-DRA MIR6873 APOM NFKBIL1 HSPA1B HLA-DMB DXO CYP21A1P SNORD117 LSM2 VARS B3GALT4 PSMB9 COL11A2 HCG24 SNORD84 NELFE PPP1R2P1 EHMT2 RPS18 SNORD52 CLIC1 LY6G5C LY6G5B LTA DDX39B CUTA DAXX VPS52 C6orf47 WDR46 HLA-DPB2 MICB LOC102725068 GPANK1 DDAH2 LOC100287329 HLA-DRB5 SYNGAP1 MIR6832 HSPA1L MSH5-SAPCD1 LTB SLC44A4 ATP6V1G2-DDX39B BAG6 SNORA38 EGFL8 STK19 NOTCH4 |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | HCG25 SKIV2L RXRB TNXB HLA-DPA1 HSD17B8 NCR3 MIR219A1 HLA-DRB6 SNORD48 C6orf10 MIR6834 ZBTB9 MIR4646 PRRT1 C6orf25 GPSM3 HLA-DQB2 HLA-DMA HCP5 TAP1 NEU1 FKBPL ATP6V1G2 SLC39A7 HCG23 LOC100507547 HLA-DOB SAPCD1 HLA-DQA1 SAPCD1-AS1 C2-AS1 LY6G6E HLA-DQB1 PPT2 PSMB8-AS1 BRD2 CFB RNF5 PBX2 KIFC1 HLA-DQA2 ABHD16A LY6G6F ZBTB22 CSNK2B ATF6B MIR6721 PFDN6 MIR6833 AIF1 HLA-DQB1-AS1 TNF AGPAT1 PHF1 ZBTB12 DDX39B-AS1 LY6G6C PPT2-EGFL8 C6orf48 BTNL2 TAP2 RGL2 MSH5 C2 TAPBP C4A CYP21A2 LST1 HCG26 MIR1236 MCCD1 LY6G6D HLA-DPB1 AGER PRRC2A TNXA HSPA1A HLA-DRB1 LOC100294145 MIR5004 RING1 MIR3135B LOC101929163 PSMB8 HLA-DOA VWA7 C4B HLA-DRA MIR6873 APOM NFKBIL1 HSPA1B HLA-DMB DXO CYP21A1P SNORD117 LSM2 VARS B3GALT4 PSMB9 COL11A2 HCG24 SNORD84 NELFE PPP1R2P1 EHMT2 RPS18 SNORD52 CLIC1 LY6G5C LY6G5B LTA DDX39B CUTA DAXX VPS52 C6orf47 WDR46 HLA-DPB2 MICB LOC102725068 GPANK1 DDAH2 LOC100287329 HLA-DRB5 SYNGAP1 MIR6832 HSPA1L MSH5-SAPCD1 LTB SLC44A4 ATP6V1G2-DDX39B BAG6 SNORA38 EGFL8 STK19 NOTCH4 |
nsv1119076 | Chr.6:32595823 - 33480623 on Build GRCh38 | Deletion | HCG25 RXRB HLA-DPB1 HLA-DPA1 CUTA HSD17B8 KIFC1 DAXX HLA-DQA2 MIR219A1 MIR6834 VPS52 ZBTB9 ZBTB22 LOC100294145 WDR46 HLA-DPB2 MIR5004 PFDN6 RING1 HLA-DQB2 MIR3135B SYNGAP1 PSMB8 HLA-DOA HLA-DQB1-AS1 HLA-DMA PHF1 TAP1 MIR6873 SLC39A7 HLA-DMB HLA-DOB HLA-DQA1 B3GALT4 TAP2 RGL2 PSMB9 COL11A2 HCG24 TAPBP PPP1R2P1 RPS18 HLA-DQB1 PSMB8-AS1 BRD2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |