Assay Details
Target Gene Details
Entrez Gene ID: | 54345 |
Gene Name: | SRY-box 18 |
Gene Aliases: |
HLTRS, HLTS |
Location: |
Chr.20:64047726-64049626 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SOX18 | NM_018419.2 | 2 | 1560 | NP_060889.1 |
AF270652.1 | 2 | 1572 | AAG48577.1 | |
AJ243896.1 | 2 | 1462 | CAB95835.1 | |
BC038590.1 | 2 | 1562 | AAH38590.1 | |
BC073971.1 | 2 | 1562 | AAH73971.1 | |
BC111390.1 | 2 | 1560 |
Target Gene Details
Entrez Gene ID: | 6919 |
Gene Name: | transcription elongation factor A2 |
Gene Aliases: |
TFIIS |
Location: |
Chr.20:64042350-64072347 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TCEA2 | XM_011529022.1 | XP_011527324.1 | ||
XM_011529027.2 | XP_011527329.1 | |||
XM_017028036.1 | XP_016883525.1 | |||
XM_017028037.1 | XP_016883526.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv470564 | Chr.20:64027492 - 64169828 on Build GRCh38 | Gain | MYT1 LKAAEAR1 SOX18 PRPF6 LINC00176 TCEA2 NPBWR2 RGS19 OPRL1 MIR6813 |
nsv586703 | Chr.20:63964886 - 64095388 on Build GRCh38 | Loss | LKAAEAR1 SOX18 PRPF6 LINC00176 TCEA2 ZNF512B RGS19 OPRL1 MIR6813 SAMD10 |
nsv509785 | Chr.20:63999103 - 64137376 on Build GRCh38 | Insertion | LKAAEAR1 SOX18 PRPF6 LINC00176 TCEA2 NPBWR2 RGS19 OPRL1 MIR6813 |
nsv428381 | Chr.20:63583375 - 64334167 on Build GRCh38 | Gain+Loss | DNAJC5 C20orf181 MIR941-3 MIR1914 ABHD16B LOC100505771 TCEA2 ZBTB46 ZNF512B STMN3 UCKL1 MIR941-5 SAMD10 LKAAEAR1 MIR647 RTEL1 ARFRP1 NPBWR2 TPD52L2 MIR941-2 OPRL1 SLC2A4RG PCMTD2 MYT1 SOX18 LIME1 TNFRSF6B GMEB2 MIR941-1 RGS19 LINC00266-1 ZGPAT RTEL1-TNFRSF6B ZBTB46-AS1 MIR941-4 PRPF6 LINC00176 UCKL1-AS1 MIR6813 |
nsv953310 | Chr.20:64017648 - 64160147 on Build GRCh38 | Deletion | LKAAEAR1 SOX18 PRPF6 LINC00176 TCEA2 NPBWR2 RGS19 OPRL1 MIR6813 |
nsv1160691 | Chr.20:63943650 - 64055199 on Build GRCh38 | Deletion | SOX18 PRPF6 LINC00176 TCEA2 ZNF512B UCKL1-AS1 UCKL1 SAMD10 |
dgv7699n54 | Chr.20:64036665 - 64048700 on Build GRCh38 | Loss | SOX18 LINC00176 TCEA2 |
esv2758807 | Chr.20:64006869 - 64334167 on Build GRCh38 | Gain+Loss | PCMTD2 MYT1 LKAAEAR1 SOX18 PRPF6 LINC00176 TCEA2 NPBWR2 RGS19 OPRL1 MIR6813 LINC00266-1 |
nsv586721 | Chr.20:64047196 - 64049671 on Build GRCh38 | Gain | SOX18 TCEA2 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |