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: | Overlaps - Exon 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PHF1 | NM_002636.4 | NP_002627.1 | ||
NM_024165.2 | NP_077084.1 | |||
NR_027692.1 | ||||
XM_011514662.1 | XP_011512964.1 | |||
XM_011514663.1 | XP_011512965.1 | |||
XM_011514664.1 | XP_011512966.1 | |||
XM_011514665.1 | XP_011512967.1 | |||
XM_011514666.1 | XP_011512968.1 | |||
XM_011514669.1 | XP_011512971.1 | |||
XM_017010939.1 | XP_016866428.1 | |||
AF029678.1 | AAC52062.1 | |||
AF052205.1 | AAC13273.1 | |||
AK225913.1 | ||||
BC008834.2 | AAH08834.1 | |||
CB242267.1 |
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 | MIR5004 PHF1 ZBTB9 KIFC1 CUTA SYNGAP1 |
nsv830635 | Chr.6:33270228 - 33446010 on Build GRCh38 | Loss | RGL2 PFDN6 B3GALT4 RPS18 PHF1 WDR46 SYNGAP1 VPS52 TAPBP MIR6834 MIR5004 KIFC1 DAXX CUTA ZBTB22 MIR6873 |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | PFDN6 EGFL8 RPS18 SNORD52 NEU1 CYP21A2 ABHD16A GPANK1 VPS52 MIR6721 MIR3135B LOC101929163 LOC100294145 C6orf47 HLA-DRA KIFC1 LSM2 HLA-DPB1 VWA7 MSH5 ZBTB22 SAPCD1-AS1 HLA-DOB FKBPL NFKBIL1 PSMB8-AS1 HLA-DPB2 RING1 AGPAT1 HLA-DRB5 LY6G6F AIF1 HLA-DMB LY6G5C DDAH2 ATP6V1G2 RGL2 AGER LOC102725068 TNXB B3GALT4 PHF1 HCG25 MSH5-SAPCD1 LY6G6C EHMT2 MIR1236 HLA-DRB6 LY6G6E PRRC2A ZBTB9 PPP1R2P1 SLC44A4 HLA-DQB2 HSPA1L MIR6873 DDX39B-AS1 NELFE RNF5 C4A HCG24 SNORA38 MIR6833 HLA-DQA1 HLA-DOA DXO TNF HCG26 HLA-DRB1 COL11A2 C6orf10 MIR6834 MCCD1 HLA-DPA1 ATF6B SNORD84 PPT2 LTA HSPA1A LOC100507547 LY6G5B LY6G6D STK19 NCR3 CLIC1 LST1 TAP2 RXRB PRRT1 NOTCH4 PPT2-EGFL8 MIR219A1 ZBTB12 HSD17B8 PSMB9 DAXX GPSM3 CUTA C4B ATP6V1G2-DDX39B HCG23 C6orf25 MIR4646 HCP5 SNORD48 CYP21A1P SLC39A7 VARS APOM HLA-DQB1-AS1 TNXA HLA-DQB1 SKIV2L HSPA1B LOC100287329 DDX39B CFB BTNL2 SNORD117 TAP1 HLA-DMA PSMB8 C2 CSNK2B PBX2 SAPCD1 MICB C2-AS1 BRD2 MIR6832 C6orf48 WDR46 HLA-DQA2 SYNGAP1 TAPBP MIR5004 LTB BAG6 |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | PFDN6 EGFL8 RPS18 SNORD52 NEU1 CYP21A2 ABHD16A GPANK1 VPS52 MIR6721 MIR3135B LOC101929163 LOC100294145 C6orf47 HLA-DRA KIFC1 LSM2 HLA-DPB1 VWA7 MSH5 ZBTB22 SAPCD1-AS1 HLA-DOB FKBPL NFKBIL1 PSMB8-AS1 HLA-DPB2 RING1 AGPAT1 HLA-DRB5 LY6G6F AIF1 HLA-DMB LY6G5C DDAH2 ATP6V1G2 RGL2 AGER LOC102725068 TNXB B3GALT4 PHF1 HCG25 MSH5-SAPCD1 LY6G6C EHMT2 MIR1236 HLA-DRB6 LY6G6E PRRC2A ZBTB9 PPP1R2P1 SLC44A4 HLA-DQB2 HSPA1L MIR6873 DDX39B-AS1 NELFE RNF5 C4A HCG24 SNORA38 MIR6833 HLA-DQA1 HLA-DOA DXO TNF HCG26 HLA-DRB1 COL11A2 C6orf10 MIR6834 MCCD1 HLA-DPA1 ATF6B SNORD84 PPT2 LTA HSPA1A LOC100507547 LY6G5B LY6G6D STK19 NCR3 CLIC1 LST1 TAP2 RXRB PRRT1 NOTCH4 PPT2-EGFL8 MIR219A1 ZBTB12 HSD17B8 PSMB9 DAXX GPSM3 CUTA C4B ATP6V1G2-DDX39B HCG23 C6orf25 MIR4646 HCP5 SNORD48 CYP21A1P SLC39A7 VARS APOM HLA-DQB1-AS1 TNXA HLA-DQB1 SKIV2L HSPA1B LOC100287329 DDX39B CFB BTNL2 SNORD117 TAP1 HLA-DMA PSMB8 C2 CSNK2B PBX2 SAPCD1 MICB C2-AS1 BRD2 MIR6832 C6orf48 WDR46 HLA-DQA2 SYNGAP1 TAPBP MIR5004 LTB BAG6 |
nsv602832 | Chr.6:33414464 - 33552444 on Build GRCh38 | Loss | MIR5004 PHF1 ZBTB9 CUTA SYNGAP1 |
nsv1119076 | Chr.6:32595823 - 33480623 on Build GRCh38 | Deletion | SLC39A7 RGL2 PFDN6 B3GALT4 HLA-DQB1-AS1 RPS18 PHF1 HLA-DQB1 HCG25 VPS52 COL11A2 MIR6834 TAP1 HLA-DPA1 HLA-DMA MIR3135B LOC100294145 PSMB8 ZBTB9 KIFC1 PPP1R2P1 HLA-DPB1 HLA-DQB2 ZBTB22 MIR6873 HLA-DOB PSMB8-AS1 HLA-DPB2 BRD2 RING1 WDR46 HLA-DQA2 HCG24 SYNGAP1 TAP2 RXRB TAPBP MIR219A1 HSD17B8 MIR5004 HLA-DMB PSMB9 DAXX CUTA HLA-DQA1 HLA-DOA |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |