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 8 - Intron 8 |
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 | SYNGAP1 KIFC1 CUTA PHF1 MIR5004 ZBTB9 |
nsv830635 | Chr.6:33270228 - 33446010 on Build GRCh38 | Loss | B3GALT4 SYNGAP1 TAPBP PFDN6 RGL2 PHF1 MIR5004 RPS18 ZBTB22 KIFC1 VPS52 CUTA MIR6834 WDR46 MIR6873 DAXX |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | EGFL8 SNORA38 NELFE ABHD16A HCG23 TAP1 HSPA1A BAG6 C6orf25 HCG25 CUTA APOM CYP21A2 HCG26 SAPCD1 C4B TAPBP BRD2 NCR3 MIR4646 LOC101929163 TNXA CSNK2B C2-AS1 HLA-DPA1 LST1 RXRB MICB SNORD52 HLA-DOB VWA7 STK19 RGL2 PSMB9 MCCD1 GPSM3 HLA-DMB MSH5 ZBTB9 RPS18 C4A RING1 HLA-DRB1 DDX39B LY6G5B VPS52 DDAH2 SLC39A7 MIR6834 MIR219A1 MIR6873 LY6G6E C6orf47 LOC100507547 ATF6B DDX39B-AS1 MIR3135B SAPCD1-AS1 MIR5004 MSH5-SAPCD1 LY6G6D NEU1 PPT2-EGFL8 LY6G6F NOTCH4 WDR46 HLA-DRA LOC100294145 AGPAT1 PPT2 DAXX MIR6833 GPANK1 PBX2 HLA-DOA RNF5 MIR6721 AIF1 HSD17B8 TNF FKBPL PSMB8-AS1 PPP1R2P1 ATP6V1G2-DDX39B SLC44A4 SNORD84 HLA-DQA2 B3GALT4 NFKBIL1 SKIV2L HLA-DRB6 HLA-DRB5 LY6G6C HLA-DPB1 LSM2 C2 KIFC1 LOC100287329 SNORD117 PSMB8 HLA-DQB2 BTNL2 SYNGAP1 ATP6V1G2 TAP2 CFB HCG24 LY6G5C EHMT2 PRRT1 C6orf48 AGER CYP21A1P ZBTB22 HSPA1L MIR6832 PRRC2A MIR1236 HLA-DQB1 HLA-DQA1 LTA ZBTB12 COL11A2 VARS HLA-DPB2 SNORD48 PFDN6 C6orf10 LTB PHF1 CLIC1 HCP5 TNXB HSPA1B HLA-DMA HLA-DQB1-AS1 DXO LOC102725068 |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | EGFL8 SNORA38 NELFE ABHD16A HCG23 TAP1 HSPA1A BAG6 C6orf25 HCG25 CUTA APOM CYP21A2 HCG26 SAPCD1 C4B TAPBP BRD2 NCR3 MIR4646 LOC101929163 TNXA CSNK2B C2-AS1 HLA-DPA1 LST1 RXRB MICB SNORD52 HLA-DOB VWA7 STK19 RGL2 PSMB9 MCCD1 GPSM3 HLA-DMB MSH5 ZBTB9 RPS18 C4A RING1 HLA-DRB1 DDX39B LY6G5B VPS52 DDAH2 SLC39A7 MIR6834 MIR219A1 MIR6873 LY6G6E C6orf47 LOC100507547 ATF6B DDX39B-AS1 MIR3135B SAPCD1-AS1 MIR5004 MSH5-SAPCD1 LY6G6D NEU1 PPT2-EGFL8 LY6G6F NOTCH4 WDR46 HLA-DRA LOC100294145 AGPAT1 PPT2 DAXX MIR6833 GPANK1 PBX2 HLA-DOA RNF5 MIR6721 AIF1 HSD17B8 TNF FKBPL PSMB8-AS1 PPP1R2P1 ATP6V1G2-DDX39B SLC44A4 SNORD84 HLA-DQA2 B3GALT4 NFKBIL1 SKIV2L HLA-DRB6 HLA-DRB5 LY6G6C HLA-DPB1 LSM2 C2 KIFC1 LOC100287329 SNORD117 PSMB8 HLA-DQB2 BTNL2 SYNGAP1 ATP6V1G2 TAP2 CFB HCG24 LY6G5C EHMT2 PRRT1 C6orf48 AGER CYP21A1P ZBTB22 HSPA1L MIR6832 PRRC2A MIR1236 HLA-DQB1 HLA-DQA1 LTA ZBTB12 COL11A2 VARS HLA-DPB2 SNORD48 PFDN6 C6orf10 LTB PHF1 CLIC1 HCP5 TNXB HSPA1B HLA-DMA HLA-DQB1-AS1 DXO LOC102725068 |
nsv1119076 | Chr.6:32595823 - 33480623 on Build GRCh38 | Deletion | HLA-DOA SYNGAP1 TAP2 RGL2 PSMB9 HCG24 HLA-DMB TAP1 ZBTB9 HSD17B8 RPS18 RING1 ZBTB22 PSMB8-AS1 VPS52 HCG25 CUTA SLC39A7 HLA-DQB1 PPP1R2P1 MIR6834 HLA-DQA1 MIR219A1 MIR6873 COL11A2 HLA-DQA2 B3GALT4 HLA-DPB2 TAPBP PFDN6 BRD2 MIR3135B PHF1 MIR5004 HLA-DPB1 HLA-DMA KIFC1 HLA-DQB1-AS1 PSMB8 WDR46 HLA-DPA1 HLA-DQB2 RXRB LOC100294145 DAXX HLA-DOB |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |