Assay Details
Target Gene Details
Entrez Gene ID: | 7936 |
Gene Name: | negative elongation factor complex member E |
Gene Aliases: |
D6S45, NELF-E, RD, RDBP, RDP |
Location: |
Chr.6:31952087-31959087 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 8 - Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NELFE | NM_002904.5 | NP_002895.3 | ||
XM_006715205.3 | XP_006715268.1 | |||
XM_011514913.2 | XP_011513215.1 | |||
XM_017011299.1 | XP_016866788.1 | |||
AK300717.1 | ||||
AK300898.1 | ||||
AK302652.1 | ||||
AK303152.1 | ||||
BC025235.1 | AAH25235.1 | |||
BC050617.2 | AAH50617.1 | |||
JQ313904.1 | ||||
L03411.1 | AAC37523.1 | |||
X16105.1 | CAA34231.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv10463n54 | Chr.6:31817661 - 32683279 on Build GRCh38 | Loss | MIR6721 PPT2 NELFE PPT2-EGFL8 C6orf10 AGPAT1 AGER C6orf48 PBX2 ZBTB12 CYP21A1P SKIV2L HLA-DRA SLC44A4 CYP21A2 HLA-DRB6 SNORD52 C2-AS1 MIR1236 LOC101929163 TNXB HCG23 CFB HLA-DQB1-AS1 HLA-DQB1 HLA-DRB1 HSPA1A EGFL8 BTNL2 DXO STK19 C4A RNF5 PRRT1 HLA-DQA1 FKBPL NEU1 NOTCH4 ATF6B EHMT2 HLA-DRB5 C2 MIR6833 HSPA1B GPSM3 C4B SNORD48 LOC100507547 TNXA |
esv2759415 | Chr.6:31903735 - 32241336 on Build GRCh38 | Gain+Loss | MIR6721 PPT2 CFB NELFE PPT2-EGFL8 AGPAT1 AGER PBX2 EGFL8 DXO STK19 C4A CYP21A1P RNF5 PRRT1 SKIV2L FKBPL NOTCH4 ATF6B CYP21A2 C2-AS1 MIR1236 C2 MIR6833 GPSM3 C4B LOC100507547 TNXA TNXB |
nsv1126749 | Chr.6:31457323 - 32594423 on Build GRCh38 | Deletion | MIR6721 VARS C6orf47 PPT2 LTA NELFE LY6G6F PPT2-EGFL8 MIR4646 C6orf10 AGPAT1 AGER C6orf48 PBX2 SAPCD1-AS1 ZBTB12 BAG6 DDAH2 NCR3 CYP21A1P SKIV2L GPANK1 LTB LY6G5B LY6G6C ATP6V1G2 HCP5 HLA-DRA LOC102725068 SLC44A4 CYP21A2 HLA-DRB6 SNORD52 C2-AS1 MIR1236 MCCD1 DDX39B CSNK2B HSPA1L LOC101929163 DDX39B-AS1 TNXB LOC100287329 SNORD84 HCG23 VWA7 LST1 CFB SAPCD1 APOM PRRC2A MSH5 C6orf25 HLA-DRB1 TNF HSPA1A HCG26 EGFL8 NFKBIL1 LSM2 BTNL2 DXO STK19 C4A RNF5 PRRT1 MICB SNORD117 ATP6V1G2-DDX39B ABHD16A SNORA38 AIF1 MIR6832 FKBPL NEU1 NOTCH4 ATF6B EHMT2 LY6G6E HLA-DRB5 C2 MIR6833 HSPA1B GPSM3 C4B SNORD48 MSH5-SAPCD1 LOC100507547 TNXA CLIC1 LY6G5C LY6G6D |
nsv1073969 | Chr.6:31456422 - 33480523 on Build GRCh38 | Deletion | LOC100294145 MIR3135B C6orf47 PPT2 BRD2 LY6G6F PPT2-EGFL8 MIR4646 AGER C6orf48 MIR5004 PBX2 HLA-DOB ZBTB12 HCG24 NCR3 TAP2 PHF1 GPANK1 LTB ATP6V1G2 VPS52 HLA-DRA LOC102725068 PSMB8-AS1 C2-AS1 DDX39B RXRB HLA-DPA1 PFDN6 DDX39B-AS1 B3GALT4 LOC100287329 CFB SAPCD1 HCG25 APOM PSMB9 MSH5 C6orf25 HLA-DRB1 SYNGAP1 HSPA1A HCG26 NFKBIL1 HLA-DOA C4A HLA-DMA PRRT1 MICB ATP6V1G2-DDX39B PPP1R2P1 ZBTB22 ABHD16A KIFC1 DAXX SNORA38 AIF1 MIR6832 TAP1 NEU1 ZBTB9 ATF6B EHMT2 LY6G6E C2 MIR6833 HSPA1B C4B SNORD48 MIR219A1 RPS18 MSH5-SAPCD1 TNXA CLIC1 MIR6721 VARS LTA NELFE C6orf10 AGPAT1 SAPCD1-AS1 PSMB8 MIR6834 BAG6 DDAH2 CYP21A1P SKIV2L LY6G5B LY6G6C HCP5 HLA-DPB1 SLC44A4 CYP21A2 HLA-DRB6 SNORD52 MIR1236 MCCD1 CSNK2B HSPA1L MIR6873 LOC101929163 TNXB SNORD84 HCG23 VWA7 LST1 CUTA WDR46 TAPBP PRRC2A HLA-DQB1-AS1 HLA-DQB1 TNF EGFL8 LSM2 BTNL2 DXO STK19 RNF5 SNORD117 RGL2 HLA-DMB HLA-DQA1 COL11A2 HLA-DQA2 SLC39A7 FKBPL NOTCH4 HLA-DPB2 HLA-DRB5 RING1 GPSM3 LOC100507547 HSD17B8 HLA-DQB2 LY6G5C LY6G6D |
dgv10403n54 | Chr.6:31312324 - 32049763 on Build GRCh38 | Loss | VARS C6orf47 LTA NELFE LY6G6F MIR4646 C6orf48 SAPCD1-AS1 ZBTB12 BAG6 DDAH2 NCR3 CYP21A1P SKIV2L GPANK1 LTB LY6G5B LY6G6C ATP6V1G2 HCP5 LOC102725068 SLC44A4 CYP21A2 SNORD52 C2-AS1 MIR1236 MCCD1 DDX39B CSNK2B HSPA1L DDX39B-AS1 TNXB LOC100287329 SNORD84 VWA7 LST1 CFB SAPCD1 APOM PRRC2A MIR6891 MSH5 C6orf25 TNF HSPA1A HCG26 NFKBIL1 LSM2 DXO STK19 C4A MICB SNORD117 ATP6V1G2-DDX39B ABHD16A SNORA38 AIF1 MIR6832 NEU1 EHMT2 MICA HLA-B LY6G6E C2 HSPA1B C4B SNORD48 MSH5-SAPCD1 TNXA CLIC1 LY6G5C LY6G6D |
nsv1112900 | Chr.6:31455323 - 33480423 on Build GRCh38 | Deletion | LOC100294145 MIR3135B C6orf47 PPT2 BRD2 LY6G6F PPT2-EGFL8 MIR4646 AGER C6orf48 MIR5004 PBX2 HLA-DOB ZBTB12 HCG24 NCR3 TAP2 PHF1 GPANK1 LTB ATP6V1G2 VPS52 HLA-DRA LOC102725068 PSMB8-AS1 C2-AS1 DDX39B RXRB HLA-DPA1 PFDN6 DDX39B-AS1 B3GALT4 LOC100287329 CFB SAPCD1 HCG25 APOM PSMB9 MSH5 C6orf25 HLA-DRB1 SYNGAP1 HSPA1A HCG26 NFKBIL1 HLA-DOA C4A HLA-DMA PRRT1 MICB ATP6V1G2-DDX39B PPP1R2P1 ZBTB22 ABHD16A KIFC1 DAXX SNORA38 AIF1 MIR6832 TAP1 NEU1 ZBTB9 ATF6B EHMT2 LY6G6E C2 MIR6833 HSPA1B C4B SNORD48 MIR219A1 RPS18 MSH5-SAPCD1 TNXA CLIC1 MIR6721 VARS LTA NELFE C6orf10 AGPAT1 SAPCD1-AS1 PSMB8 MIR6834 BAG6 DDAH2 CYP21A1P SKIV2L LY6G5B LY6G6C HCP5 HLA-DPB1 SLC44A4 CYP21A2 HLA-DRB6 SNORD52 MIR1236 MCCD1 CSNK2B HSPA1L MIR6873 LOC101929163 TNXB SNORD84 HCG23 VWA7 LST1 CUTA WDR46 TAPBP PRRC2A HLA-DQB1-AS1 HLA-DQB1 TNF EGFL8 LSM2 BTNL2 DXO STK19 RNF5 SNORD117 RGL2 HLA-DMB HLA-DQA1 COL11A2 HLA-DQA2 SLC39A7 FKBPL NOTCH4 HLA-DPB2 HLA-DRB5 RING1 GPSM3 LOC100507547 HSD17B8 HLA-DQB2 LY6G5C LY6G6D |
nsv830628 | Chr.6:31919777 - 31979823 on Build GRCh38 | Loss | C2-AS1 MIR1236 C2 CFB NELFE DXO STK19 SKIV2L |
dgv10404n54 | Chr.6:31312550 - 32516591 on Build GRCh38 | Loss | MIR6721 VARS C6orf47 PPT2 LTA NELFE LY6G6F PPT2-EGFL8 MIR4646 C6orf10 AGPAT1 AGER C6orf48 PBX2 SAPCD1-AS1 ZBTB12 BAG6 DDAH2 NCR3 CYP21A1P SKIV2L GPANK1 LTB LY6G5B LY6G6C ATP6V1G2 HCP5 HLA-DRA LOC102725068 SLC44A4 CYP21A2 SNORD52 C2-AS1 MIR1236 MCCD1 DDX39B CSNK2B HSPA1L LOC101929163 DDX39B-AS1 TNXB LOC100287329 SNORD84 HCG23 VWA7 LST1 CFB SAPCD1 APOM PRRC2A MIR6891 MSH5 C6orf25 TNF HSPA1A HCG26 EGFL8 NFKBIL1 LSM2 BTNL2 DXO STK19 C4A RNF5 PRRT1 MICB SNORD117 ATP6V1G2-DDX39B ABHD16A SNORA38 AIF1 MIR6832 FKBPL NEU1 NOTCH4 ATF6B EHMT2 MICA HLA-B LY6G6E C2 MIR6833 HSPA1B GPSM3 C4B SNORD48 MSH5-SAPCD1 LOC100507547 TNXA CLIC1 LY6G5C LY6G6D |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |