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 4 - Intron 4 |
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 | ||||
AK316499.1 | ||||
BC008834.2 | AAH08834.1 | |||
DA065298.1 | ||||
DA872118.1 |
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 | SYNGAP1 PHF1 ZBTB9 CUTA KIFC1 MIR5004 |
nsv830635 | Chr.6:33270228 - 33446010 on Build GRCh38 | Loss | PHF1 DAXX B3GALT4 WDR46 RPS18 RGL2 ZBTB22 TAPBP MIR5004 MIR6873 SYNGAP1 VPS52 CUTA KIFC1 MIR6834 PFDN6 |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | MIR1236 DAXX HSPA1L ABHD16A SNORD84 NOTCH4 TNXB MIR219A1 LY6G5B PRRC2A ATP6V1G2-DDX39B LY6G6E LOC100287329 KIFC1 SAPCD1-AS1 MCCD1 APOM ZBTB12 LOC101929163 HLA-DPA1 FKBPL RNF5 EHMT2 PRRT1 AGER SLC39A7 NELFE AIF1 LSM2 MSH5-SAPCD1 HLA-DRA C6orf48 EGFL8 LY6G5C TAP2 C6orf25 SKIV2L RPS18 RGL2 HLA-DMA MIR6873 LOC100294145 SYNGAP1 MIR6832 CYP21A2 BRD2 HLA-DOB C2-AS1 LY6G6D CSNK2B WDR46 HCG24 LY6G6F MIR5004 HCG26 LTA AGPAT1 DDAH2 SNORD117 PPT2 BTNL2 PSMB8-AS1 HLA-DOA GPANK1 HCP5 HLA-DRB5 HCG25 NCR3 CYP21A1P CFB COL11A2 BAG6 SNORD52 HLA-DRB1 CUTA PSMB8 HLA-DQB1 HLA-DQA2 HSD17B8 PFDN6 TNF MSH5 MIR4646 PPT2-EGFL8 STK19 LY6G6C ZBTB22 TAPBP PSMB9 HLA-DQA1 HLA-DPB2 TNXA PBX2 LST1 LOC102725068 NEU1 RING1 C6orf10 HSPA1B ATF6B MIR6721 VWA7 HLA-DMB MIR6833 PPP1R2P1 B3GALT4 LTB SNORD48 NFKBIL1 C2 HSPA1A SAPCD1 GPSM3 HLA-DQB2 VARS DXO ATP6V1G2 VPS52 ZBTB9 MICB C6orf47 DDX39B PHF1 C4B HLA-DRB6 HCG23 HLA-DQB1-AS1 CLIC1 C4A SLC44A4 DDX39B-AS1 SNORA38 TAP1 LOC100507547 HLA-DPB1 MIR3135B RXRB MIR6834 |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | MIR1236 DAXX HSPA1L ABHD16A SNORD84 NOTCH4 TNXB MIR219A1 LY6G5B PRRC2A ATP6V1G2-DDX39B LY6G6E LOC100287329 KIFC1 SAPCD1-AS1 MCCD1 APOM ZBTB12 LOC101929163 HLA-DPA1 FKBPL RNF5 EHMT2 PRRT1 AGER SLC39A7 NELFE AIF1 LSM2 MSH5-SAPCD1 HLA-DRA C6orf48 EGFL8 LY6G5C TAP2 C6orf25 SKIV2L RPS18 RGL2 HLA-DMA MIR6873 LOC100294145 SYNGAP1 MIR6832 CYP21A2 BRD2 HLA-DOB C2-AS1 LY6G6D CSNK2B WDR46 HCG24 LY6G6F MIR5004 HCG26 LTA AGPAT1 DDAH2 SNORD117 PPT2 BTNL2 PSMB8-AS1 HLA-DOA GPANK1 HCP5 HLA-DRB5 HCG25 NCR3 CYP21A1P CFB COL11A2 BAG6 SNORD52 HLA-DRB1 CUTA PSMB8 HLA-DQB1 HLA-DQA2 HSD17B8 PFDN6 TNF MSH5 MIR4646 PPT2-EGFL8 STK19 LY6G6C ZBTB22 TAPBP PSMB9 HLA-DQA1 HLA-DPB2 TNXA PBX2 LST1 LOC102725068 NEU1 RING1 C6orf10 HSPA1B ATF6B MIR6721 VWA7 HLA-DMB MIR6833 PPP1R2P1 B3GALT4 LTB SNORD48 NFKBIL1 C2 HSPA1A SAPCD1 GPSM3 HLA-DQB2 VARS DXO ATP6V1G2 VPS52 ZBTB9 MICB C6orf47 DDX39B PHF1 C4B HLA-DRB6 HCG23 HLA-DQB1-AS1 CLIC1 C4A SLC44A4 DDX39B-AS1 SNORA38 TAP1 LOC100507547 HLA-DPB1 MIR3135B RXRB MIR6834 |
nsv1119076 | Chr.6:32595823 - 33480623 on Build GRCh38 | Deletion | PSMB8-AS1 PPP1R2P1 HLA-DOA DAXX B3GALT4 TAP2 RPS18 RGL2 MIR219A1 HLA-DMA HCG25 MIR6873 LOC100294145 HLA-DQB2 SYNGAP1 COL11A2 VPS52 ZBTB9 BRD2 CUTA HLA-DOB PSMB8 HLA-DQB1 HLA-DQA2 KIFC1 HSD17B8 PFDN6 PHF1 HLA-DPA1 WDR46 HLA-DQB1-AS1 HCG24 ZBTB22 TAPBP PSMB9 HLA-DQA1 SLC39A7 HLA-DPB2 MIR5004 TAP1 HLA-DPB1 MIR3135B RXRB RING1 HLA-DMB MIR6834 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |