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 9 - Intron 9 |
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 | ZBTB9 MIR5004 CUTA SYNGAP1 KIFC1 PHF1 |
nsv830635 | Chr.6:33270228 - 33446010 on Build GRCh38 | Loss | RPS18 PFDN6 MIR5004 SYNGAP1 RGL2 WDR46 KIFC1 TAPBP VPS52 ZBTB22 DAXX MIR6834 MIR6873 CUTA B3GALT4 PHF1 |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | PPP1R2P1 HLA-DMA RXRB NFKBIL1 ATF6B ZBTB12 SNORD117 ZBTB22 MIR6833 MIR219A1 C6orf48 BTNL2 C4A LOC100287329 PRRC2A C2-AS1 SNORA38 BAG6 TAP2 SNORD48 SYNGAP1 PSMB8-AS1 HCG26 HSD17B8 HLA-DMB LY6G5B MIR6834 VWA7 B3GALT4 NEU1 LOC100507547 PRRT1 HLA-DQA1 SNORD84 C6orf10 PSMB9 LOC102725068 MIR5004 DDX39B-AS1 SAPCD1-AS1 WDR46 KIFC1 HLA-DRA CFB LY6G6D RING1 MSH5 PPT2 FKBPL NELFE CSNK2B NOTCH4 PFDN6 HSPA1B HSPA1A PPT2-EGFL8 DDAH2 LSM2 C2 LOC101929163 CLIC1 MIR6873 DDX39B NCR3 VARS CYP21A2 HLA-DRB1 MIR6721 MCCD1 RNF5 EGFL8 MIR3135B TNF BRD2 HLA-DQB2 APOM COL11A2 GPSM3 LY6G6F AIF1 ZBTB9 DAXX STK19 AGER HSPA1L SLC39A7 PBX2 HCG25 LY6G5C GPANK1 HLA-DPA1 AGPAT1 RGL2 HCG23 ABHD16A PSMB8 LOC100294145 EHMT2 TAPBP HLA-DPB1 LST1 HLA-DOA LY6G6C SNORD52 DXO HLA-DPB2 C6orf25 ATP6V1G2 MICB C6orf47 LTA HLA-DQB1 VPS52 MIR4646 TNXB CUTA SKIV2L MSH5-SAPCD1 LY6G6E HLA-DQB1-AS1 PHF1 TAP1 RPS18 LTB HLA-DRB5 CYP21A1P C4B MIR1236 SLC44A4 HCP5 ATP6V1G2-DDX39B HLA-DQA2 MIR6832 SAPCD1 HCG24 HLA-DOB HLA-DRB6 TNXA |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | PPP1R2P1 HLA-DMA RXRB NFKBIL1 ATF6B ZBTB12 SNORD117 ZBTB22 MIR6833 MIR219A1 C6orf48 BTNL2 C4A LOC100287329 PRRC2A C2-AS1 SNORA38 BAG6 TAP2 SNORD48 SYNGAP1 PSMB8-AS1 HCG26 HSD17B8 HLA-DMB LY6G5B MIR6834 VWA7 B3GALT4 NEU1 LOC100507547 PRRT1 HLA-DQA1 SNORD84 C6orf10 PSMB9 LOC102725068 MIR5004 DDX39B-AS1 SAPCD1-AS1 WDR46 KIFC1 HLA-DRA CFB LY6G6D RING1 MSH5 PPT2 FKBPL NELFE CSNK2B NOTCH4 PFDN6 HSPA1B HSPA1A PPT2-EGFL8 DDAH2 LSM2 C2 LOC101929163 CLIC1 MIR6873 DDX39B NCR3 VARS CYP21A2 HLA-DRB1 MIR6721 MCCD1 RNF5 EGFL8 MIR3135B TNF BRD2 HLA-DQB2 APOM COL11A2 GPSM3 LY6G6F AIF1 ZBTB9 DAXX STK19 AGER HSPA1L SLC39A7 PBX2 HCG25 LY6G5C GPANK1 HLA-DPA1 AGPAT1 RGL2 HCG23 ABHD16A PSMB8 LOC100294145 EHMT2 TAPBP HLA-DPB1 LST1 HLA-DOA LY6G6C SNORD52 DXO HLA-DPB2 C6orf25 ATP6V1G2 MICB C6orf47 LTA HLA-DQB1 VPS52 MIR4646 TNXB CUTA SKIV2L MSH5-SAPCD1 LY6G6E HLA-DQB1-AS1 PHF1 TAP1 RPS18 LTB HLA-DRB5 CYP21A1P C4B MIR1236 SLC44A4 HCP5 ATP6V1G2-DDX39B HLA-DQA2 MIR6832 SAPCD1 HCG24 HLA-DOB HLA-DRB6 TNXA |
nsv1119076 | Chr.6:32595823 - 33480623 on Build GRCh38 | Deletion | PPP1R2P1 HLA-DQA1 HLA-DMA PSMB9 MIR5004 MIR3135B RXRB WDR46 KIFC1 BRD2 HLA-DQB2 HLA-DQB1 COL11A2 VPS52 RING1 ZBTB9 ZBTB22 MIR219A1 DAXX CUTA SLC39A7 HLA-DQB1-AS1 PHF1 HCG25 TAP1 RPS18 PFDN6 TAP2 HLA-DPA1 HLA-DQA2 SYNGAP1 RGL2 PSMB8-AS1 PSMB8 LOC100294145 HSD17B8 HCG24 HLA-DMB TAPBP HLA-DPB1 HLA-DOB MIR6834 MIR6873 B3GALT4 HLA-DOA HLA-DPB2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |