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 6 - Intron 6 |
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_011514670.2 | XP_011512972.1 | |||
XM_017010939.1 | XP_016866428.1 | |||
AF029678.1 | AAC52062.1 | |||
AF052205.1 | AAC13273.1 | |||
AK225913.1 | ||||
AK295412.1 | ||||
AK299162.1 | ||||
AK316499.1 | ||||
BC008834.2 | 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 SYNGAP1 ZBTB9 CUTA KIFC1 |
nsv830635 | Chr.6:33270228 - 33446010 on Build GRCh38 | Loss | PFDN6 MIR5004 SYNGAP1 RPS18 WDR46 TAPBP MIR6873 VPS52 CUTA MIR6834 PHF1 DAXX B3GALT4 ZBTB22 RGL2 KIFC1 |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | TNF MIR5004 SLC44A4 MIR4646 STK19 AGER HCG24 GPANK1 PSMB9 DDX39B-AS1 SNORD48 ATP6V1G2 HLA-DRB5 HLA-DPB1 MIR3135B ATP6V1G2-DDX39B MICB RXRB TNXB SLC39A7 TAP1 MIR6721 HSPA1L DXO C6orf47 RNF5 PBX2 HLA-DQB2 NEU1 COL11A2 DDAH2 CYP21A2 LOC100507547 HLA-DQB1-AS1 HSD17B8 C4A SNORD52 PPT2 MIR6832 RPS18 HLA-DQB1 ZBTB9 WDR46 C6orf25 NCR3 HLA-DOB DDX39B BAG6 TAP2 VWA7 HLA-DRB6 LY6G5B C6orf10 HLA-DRB1 B3GALT4 RING1 PPP1R2P1 LY6G5C HLA-DMA LTB HLA-DOA HCG25 GPSM3 HLA-DRA PRRC2A HLA-DPA1 LST1 HSPA1B DAXX LOC100287329 NELFE LSM2 MIR6833 SNORD117 KIFC1 PFDN6 LOC102725068 MCCD1 VARS HLA-DPB2 FKBPL HLA-DMB SNORA38 PRRT1 APOM MSH5-SAPCD1 EGFL8 EHMT2 AGPAT1 SKIV2L ABHD16A RGL2 LY6G6C SNORD84 NFKBIL1 LTA MIR6873 LOC100294145 PPT2-EGFL8 CUTA CSNK2B HCG23 MIR6834 LOC101929163 BTNL2 HCP5 HSPA1A C4B LY6G6E MIR219A1 PSMB8 ATF6B CLIC1 CYP21A1P LY6G6D SYNGAP1 VPS52 LY6G6F NOTCH4 PHF1 SAPCD1-AS1 ZBTB12 MSH5 AIF1 ZBTB22 TAPBP PSMB8-AS1 SAPCD1 BRD2 C2 HCG26 C2-AS1 C6orf48 MIR1236 HLA-DQA2 TNXA HLA-DQA1 CFB |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | TNF MIR5004 SLC44A4 MIR4646 STK19 AGER HCG24 GPANK1 PSMB9 DDX39B-AS1 SNORD48 ATP6V1G2 HLA-DRB5 HLA-DPB1 MIR3135B ATP6V1G2-DDX39B MICB RXRB TNXB SLC39A7 TAP1 MIR6721 HSPA1L DXO C6orf47 RNF5 PBX2 HLA-DQB2 NEU1 COL11A2 DDAH2 CYP21A2 LOC100507547 HLA-DQB1-AS1 HSD17B8 C4A SNORD52 PPT2 MIR6832 RPS18 HLA-DQB1 ZBTB9 WDR46 C6orf25 NCR3 HLA-DOB DDX39B BAG6 TAP2 VWA7 HLA-DRB6 LY6G5B C6orf10 HLA-DRB1 B3GALT4 RING1 PPP1R2P1 LY6G5C HLA-DMA LTB HLA-DOA HCG25 GPSM3 HLA-DRA PRRC2A HLA-DPA1 LST1 HSPA1B DAXX LOC100287329 NELFE LSM2 MIR6833 SNORD117 KIFC1 PFDN6 LOC102725068 MCCD1 VARS HLA-DPB2 FKBPL HLA-DMB SNORA38 PRRT1 APOM MSH5-SAPCD1 EGFL8 EHMT2 AGPAT1 SKIV2L ABHD16A RGL2 LY6G6C SNORD84 NFKBIL1 LTA MIR6873 LOC100294145 PPT2-EGFL8 CUTA CSNK2B HCG23 MIR6834 LOC101929163 BTNL2 HCP5 HSPA1A C4B LY6G6E MIR219A1 PSMB8 ATF6B CLIC1 CYP21A1P LY6G6D SYNGAP1 VPS52 LY6G6F NOTCH4 PHF1 SAPCD1-AS1 ZBTB12 MSH5 AIF1 ZBTB22 TAPBP PSMB8-AS1 SAPCD1 BRD2 C2 HCG26 C2-AS1 C6orf48 MIR1236 HLA-DQA2 TNXA HLA-DQA1 CFB |
nsv1119076 | Chr.6:32595823 - 33480623 on Build GRCh38 | Deletion | PFDN6 MIR5004 SYNGAP1 RPS18 HLA-DQB1 ZBTB9 WDR46 VPS52 HLA-DOB TAP2 HLA-DPB2 HLA-DMB HCG24 PHF1 PSMB9 B3GALT4 RING1 ZBTB22 PPP1R2P1 RGL2 HLA-DMA HLA-DPB1 MIR3135B HLA-DOA HCG25 RXRB TAPBP PSMB8-AS1 MIR6873 LOC100294145 SLC39A7 BRD2 HLA-DPA1 TAP1 CUTA MIR6834 HLA-DQB2 DAXX COL11A2 HLA-DQA2 HLA-DQB1-AS1 MIR219A1 HSD17B8 HLA-DQA1 PSMB8 KIFC1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |