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 14 |
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 | 13 | 1457 | XP_011512967.1 | |
XM_011514666.1 | 13 | 1457 | 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 | CUTA KIFC1 ZBTB9 PHF1 SYNGAP1 MIR5004 |
nsv830635 | Chr.6:33270228 - 33446010 on Build GRCh38 | Loss | CUTA DAXX WDR46 MIR6873 VPS52 RGL2 TAPBP MIR6834 B3GALT4 MIR5004 RPS18 KIFC1 PFDN6 ZBTB22 PHF1 SYNGAP1 |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | C6orf48 HCP5 MIR6833 HLA-DQB2 TNXB AIF1 HLA-DMA DXO LY6G6D BAG6 CYP21A2 SLC44A4 FKBPL NOTCH4 HLA-DQA1 MIR6834 HCG25 MIR6832 SNORD84 LY6G6C SNORD117 PFDN6 SKIV2L HLA-DOB PBX2 PHF1 MIR6873 VPS52 MICB BRD2 CYP21A1P HCG23 SAPCD1-AS1 HLA-DRA LOC101929163 NEU1 KIFC1 HCG24 HLA-DRB5 PSMB8 AGPAT1 PPT2-EGFL8 MSH5-SAPCD1 CLIC1 C6orf10 TAPBP TNF MSH5 PSMB9 PRRT1 ZBTB12 B3GALT4 ZBTB22 LOC102725068 VWA7 TNXA APOM HLA-DQA2 CFB HSPA1A LY6G6F LTB ATF6B LOC100287329 NELFE C4A SAPCD1 HLA-DQB1-AS1 CSNK2B HSPA1B C2-AS1 MIR4646 AGER HLA-DMB HLA-DRB1 WDR46 PSMB8-AS1 STK19 SLC39A7 DDX39B MIR219A1 C6orf47 HSD17B8 LOC100507547 PPT2 LY6G5C RPS18 LST1 VARS NCR3 HLA-DQB1 LOC100294145 HLA-DRB6 SYNGAP1 TAP1 CUTA LTA DAXX MIR3135B MCCD1 ZBTB9 RGL2 C4B HCG26 BTNL2 ATP6V1G2 HLA-DPB2 HSPA1L RXRB RING1 ABHD16A PRRC2A LY6G6E DDAH2 HLA-DOA PPP1R2P1 C6orf25 COL11A2 TAP2 LSM2 HLA-DPB1 HLA-DPA1 GPANK1 C2 ATP6V1G2-DDX39B EHMT2 EGFL8 SNORD52 SNORA38 DDX39B-AS1 RNF5 LY6G5B MIR5004 GPSM3 SNORD48 MIR6721 NFKBIL1 MIR1236 |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | C6orf48 HCP5 MIR6833 HLA-DQB2 TNXB AIF1 HLA-DMA DXO LY6G6D BAG6 CYP21A2 SLC44A4 FKBPL NOTCH4 HLA-DQA1 MIR6834 HCG25 MIR6832 SNORD84 LY6G6C SNORD117 PFDN6 SKIV2L HLA-DOB PBX2 PHF1 MIR6873 VPS52 MICB BRD2 CYP21A1P HCG23 SAPCD1-AS1 HLA-DRA LOC101929163 NEU1 KIFC1 HCG24 HLA-DRB5 PSMB8 AGPAT1 PPT2-EGFL8 MSH5-SAPCD1 CLIC1 C6orf10 TAPBP TNF MSH5 PSMB9 PRRT1 ZBTB12 B3GALT4 ZBTB22 LOC102725068 VWA7 TNXA APOM HLA-DQA2 CFB HSPA1A LY6G6F LTB ATF6B LOC100287329 NELFE C4A SAPCD1 HLA-DQB1-AS1 CSNK2B HSPA1B C2-AS1 MIR4646 AGER HLA-DMB HLA-DRB1 WDR46 PSMB8-AS1 STK19 SLC39A7 DDX39B MIR219A1 C6orf47 HSD17B8 LOC100507547 PPT2 LY6G5C RPS18 LST1 VARS NCR3 HLA-DQB1 LOC100294145 HLA-DRB6 SYNGAP1 TAP1 CUTA LTA DAXX MIR3135B MCCD1 ZBTB9 RGL2 C4B HCG26 BTNL2 ATP6V1G2 HLA-DPB2 HSPA1L RXRB RING1 ABHD16A PRRC2A LY6G6E DDAH2 HLA-DOA PPP1R2P1 C6orf25 COL11A2 TAP2 LSM2 HLA-DPB1 HLA-DPA1 GPANK1 C2 ATP6V1G2-DDX39B EHMT2 EGFL8 SNORD52 SNORA38 DDX39B-AS1 RNF5 LY6G5B MIR5004 GPSM3 SNORD48 MIR6721 NFKBIL1 MIR1236 |
nsv1119076 | Chr.6:32595823 - 33480623 on Build GRCh38 | Deletion | CUTA HLA-DQA2 DAXX MIR3135B MIR6873 ZBTB9 VPS52 RGL2 BRD2 HLA-DPB2 KIFC1 HLA-DQB1-AS1 RXRB HLA-DQB2 HCG24 RING1 PSMB8 HLA-DMA HLA-DOA HLA-DMB PPP1R2P1 COL11A2 TAP2 HLA-DPB1 HLA-DPA1 WDR46 PSMB8-AS1 SLC39A7 TAPBP HLA-DQA1 MIR6834 HCG25 MIR219A1 PSMB9 HSD17B8 B3GALT4 MIR5004 RPS18 PFDN6 ZBTB22 HLA-DQB1 HLA-DOB LOC100294145 PHF1 SYNGAP1 TAP1 |
nsv602832 | Chr.6:33414464 - 33552444 on Build GRCh38 | Loss | CUTA ZBTB9 PHF1 SYNGAP1 MIR5004 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |