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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PHF1 | NM_002636.4 | 2 | 270 | NP_002627.1 |
NM_024165.2 | 2 | 270 | NP_077084.1 | |
NR_027692.1 | 2 | 270 | ||
XM_011514662.1 | 2 | 187 | XP_011512964.1 | |
XM_011514663.1 | 2 | 187 | XP_011512965.1 | |
XM_011514664.1 | 2 | 187 | XP_011512966.1 | |
XM_011514665.1 | 2 | 187 | XP_011512967.1 | |
XM_011514666.1 | 2 | 187 | XP_011512968.1 | |
XM_011514669.1 | 2 | 187 | XP_011512971.1 | |
XM_011514670.2 | 2 | 187 | XP_011512972.1 | |
XM_017010939.1 | XP_016866428.1 | |||
AF029678.1 | 2 | 90 | AAC52062.1 | |
AF052205.1 | 2 | 86 | AAC13273.1 | |
AK225913.1 | 2 | 238 | ||
AK295412.1 | 2 | 140 | ||
AK316499.1 | 2 | 221 | ||
BC008834.2 | 2 | 238 | AAH08834.1 | |
DA065298.1 | 2 | 268 | ||
DA872118.1 | 2 | 275 |
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 | CUTA MIR5004 KIFC1 SYNGAP1 PHF1 ZBTB9 |
nsv830635 | Chr.6:33270228 - 33446010 on Build GRCh38 | Loss | DAXX CUTA ZBTB22 MIR5004 PFDN6 SYNGAP1 RGL2 RPS18 MIR6834 TAPBP B3GALT4 KIFC1 PHF1 WDR46 MIR6873 VPS52 |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | HSPA1A HCG23 PRRT1 HLA-DOA PSMB8 MCCD1 NOTCH4 TAP1 WDR46 MIR6873 RXRB HCG26 RING1 HLA-DPB2 HCG25 SLC44A4 ZBTB22 MICB CFB C2-AS1 TAP2 AIF1 C6orf25 TNF HCP5 DDX39B KIFC1 PHF1 MIR219A1 NFKBIL1 LY6G6C DAXX LOC100294145 PRRC2A RPS18 GPANK1 LY6G6D TNXB ZBTB9 LTA CSNK2B SAPCD1-AS1 LTB C4B PSMB8-AS1 NELFE VARS CUTA SNORA38 LOC100507547 SNORD48 MIR6833 ATP6V1G2-DDX39B MIR6834 MIR1236 PPP1R2P1 TNXA B3GALT4 C2 PPT2 SNORD84 HLA-DPA1 LY6G6E LY6G5B LSM2 C4A HLA-DQB2 CLIC1 MIR4646 HLA-DQB1-AS1 HLA-DQB1 MIR6721 HLA-DRB6 SNORD52 EGFL8 LOC100287329 ATP6V1G2 HCG24 NEU1 HLA-DQA1 PSMB9 HLA-DRB1 SNORD117 BAG6 SAPCD1 SKIV2L ATF6B HLA-DMA SYNGAP1 HLA-DRB5 MIR3135B DDAH2 TAPBP RNF5 MIR6832 C6orf10 EHMT2 HSPA1L PPT2-EGFL8 CYP21A2 HLA-DPB1 ZBTB12 AGPAT1 PFDN6 CYP21A1P FKBPL ABHD16A MSH5-SAPCD1 HLA-DRA COL11A2 LOC101929163 PBX2 BRD2 HLA-DQA2 AGER LY6G6F VPS52 MSH5 NCR3 GPSM3 MIR5004 APOM DDX39B-AS1 RGL2 HSPA1B C6orf48 SLC39A7 DXO HSD17B8 STK19 BTNL2 LST1 HLA-DMB C6orf47 LOC102725068 VWA7 HLA-DOB LY6G5C |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | HSPA1A HCG23 PRRT1 HLA-DOA PSMB8 MCCD1 NOTCH4 TAP1 WDR46 MIR6873 RXRB HCG26 RING1 HLA-DPB2 HCG25 SLC44A4 ZBTB22 MICB CFB C2-AS1 TAP2 AIF1 C6orf25 TNF HCP5 DDX39B KIFC1 PHF1 MIR219A1 NFKBIL1 LY6G6C DAXX LOC100294145 PRRC2A RPS18 GPANK1 LY6G6D TNXB ZBTB9 LTA CSNK2B SAPCD1-AS1 LTB C4B PSMB8-AS1 NELFE VARS CUTA SNORA38 LOC100507547 SNORD48 MIR6833 ATP6V1G2-DDX39B MIR6834 MIR1236 PPP1R2P1 TNXA B3GALT4 C2 PPT2 SNORD84 HLA-DPA1 LY6G6E LY6G5B LSM2 C4A HLA-DQB2 CLIC1 MIR4646 HLA-DQB1-AS1 HLA-DQB1 MIR6721 HLA-DRB6 SNORD52 EGFL8 LOC100287329 ATP6V1G2 HCG24 NEU1 HLA-DQA1 PSMB9 HLA-DRB1 SNORD117 BAG6 SAPCD1 SKIV2L ATF6B HLA-DMA SYNGAP1 HLA-DRB5 MIR3135B DDAH2 TAPBP RNF5 MIR6832 C6orf10 EHMT2 HSPA1L PPT2-EGFL8 CYP21A2 HLA-DPB1 ZBTB12 AGPAT1 PFDN6 CYP21A1P FKBPL ABHD16A MSH5-SAPCD1 HLA-DRA COL11A2 LOC101929163 PBX2 BRD2 HLA-DQA2 AGER LY6G6F VPS52 MSH5 NCR3 GPSM3 MIR5004 APOM DDX39B-AS1 RGL2 HSPA1B C6orf48 SLC39A7 DXO HSD17B8 STK19 BTNL2 LST1 HLA-DMB C6orf47 LOC102725068 VWA7 HLA-DOB LY6G5C |
nsv1119076 | Chr.6:32595823 - 33480623 on Build GRCh38 | Deletion | HLA-DQB2 DAXX HLA-DOA PFDN6 HLA-DQB1-AS1 LOC100294145 HLA-DQB1 RPS18 PSMB8 HCG24 HLA-DQA1 PSMB9 COL11A2 TAP1 WDR46 ZBTB9 MIR6873 RXRB BRD2 HLA-DQA2 VPS52 RING1 PSMB8-AS1 HLA-DPB2 HCG25 CUTA ZBTB22 HLA-DMA MIR5004 SYNGAP1 MIR3135B RGL2 TAP2 MIR6834 SLC39A7 TAPBP PPP1R2P1 HSD17B8 B3GALT4 KIFC1 PHF1 HLA-DMB HLA-DPA1 HLA-DOB MIR219A1 HLA-DPB1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |