Assay Details
Target Gene Details
Entrez Gene ID: | 51750 |
Gene Name: | regulator of telomere elongation helicase 1 |
Gene Aliases: |
C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL |
Location: |
Chr.20:63657810-63696253 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 2 - Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RTEL1 | NM_001283009.1 | NP_001269938.1 | ||
NM_001283010.1 | NP_001269939.1 | |||
NM_016434.3 | NP_057518.1 | |||
NM_032957.4 | NP_116575.3 | |||
AF217795.1 | AAF33687.1 | |||
AK299332.1 | ||||
AK302508.1 | ||||
AK304798.1 | ||||
JX119186.1 |
Target Gene Details
Entrez Gene ID: | 100533107 |
Gene Name: | RTEL1-TNFRSF6B readthrough (NMD candidate) |
Gene Aliases: |
- |
Location: |
Chr.20:63657810-63698698 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 2 - Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RTEL1-TNFRSF6B | NR_037882.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv953308 | Chr.20:63650148 - 63831847 on Build GRCh38 | Deletion | ZBTB46-AS1 LIME1 RTEL1 ZBTB46 STMN3 RTEL1-TNFRSF6B SLC2A4RG ZGPAT ARFRP1 TNFRSF6B |
nsv1160690 | Chr.20:63639552 - 63744287 on Build GRCh38 | Deletion | LIME1 RTEL1 ZBTB46 STMN3 RTEL1-TNFRSF6B SLC2A4RG ZGPAT ARFRP1 TNFRSF6B |
nsv428381 | Chr.20:63583375 - 64334167 on Build GRCh38 | Gain+Loss | MIR1914 NPBWR2 ABHD16B C20orf181 SLC2A4RG PRPF6 TCEA2 MIR941-5 ZBTB46-AS1 SAMD10 SOX18 MIR941-2 UCKL1-AS1 RTEL1 ZNF512B STMN3 MIR647 RTEL1-TNFRSF6B ZGPAT ARFRP1 LINC00266-1 LKAAEAR1 MIR6813 GMEB2 LIME1 MYT1 MIR941-1 UCKL1 DNAJC5 LINC00176 TNFRSF6B OPRL1 PCMTD2 RGS19 ZBTB46 LOC100505771 MIR941-3 TPD52L2 MIR941-4 |
nsv470563 | Chr.20:63486715 - 63793308 on Build GRCh38 | Loss | PTK6 FNDC11 GMEB2 LIME1 SLC2A4RG TNFRSF6B PPDPF EEF1A2 RTEL1 ZBTB46 HELZ2 STMN3 LOC100505771 RTEL1-TNFRSF6B ZGPAT ARFRP1 SRMS |
esv2758806 | Chr.20:63470996 - 63745014 on Build GRCh38 | Gain+Loss | PTK6 FNDC11 GMEB2 LIME1 SLC2A4RG TNFRSF6B PPDPF EEF1A2 RTEL1 ZBTB46 HELZ2 STMN3 KCNQ2 LOC100505771 RTEL1-TNFRSF6B ZGPAT ARFRP1 SRMS |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |