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 | 1085 | NP_060889.1 |
AB033888.1 | 2 | 1120 | BAA94874.1 | |
AF270652.1 | 2 | 1097 | AAG48577.1 | |
AJ243896.1 | 2 | 987 | CAB95835.1 | |
BC038590.1 | 2 | 1087 | AAH38590.1 | |
BC073971.1 | 2 | 1087 | AAH73971.1 | |
BC111390.1 | 2 | 1085 |
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 |
---|---|---|---|
nsv586727 | Chr.20:64048243 - 64052630 on Build GRCh38 | Gain | SOX18 TCEA2 |
nsv470564 | Chr.20:64027492 - 64169828 on Build GRCh38 | Gain | SOX18 MIR6813 OPRL1 TCEA2 PRPF6 LKAAEAR1 NPBWR2 MYT1 LINC00176 RGS19 |
nsv586722 | Chr.20:64048115 - 64048926 on Build GRCh38 | Loss | SOX18 TCEA2 |
nsv586703 | Chr.20:63964886 - 64095388 on Build GRCh38 | Loss | SOX18 SAMD10 MIR6813 OPRL1 TCEA2 ZNF512B PRPF6 LKAAEAR1 LINC00176 RGS19 |
nsv509785 | Chr.20:63999103 - 64137376 on Build GRCh38 | Insertion | SOX18 MIR6813 OPRL1 TCEA2 PRPF6 LKAAEAR1 NPBWR2 LINC00176 RGS19 |
nsv428381 | Chr.20:63583375 - 64334167 on Build GRCh38 | Gain+Loss | MIR1914 SOX18 MIR941-1 MIR6813 TNFRSF6B ABHD16B ARFRP1 ZGPAT LIME1 LINC00266-1 SAMD10 RTEL1-TNFRSF6B TCEA2 LKAAEAR1 RGS19 TPD52L2 C20orf181 LOC100505771 PRPF6 STMN3 ZBTB46 GMEB2 MIR647 MIR941-4 ZBTB46-AS1 RTEL1 OPRL1 MIR941-5 PCMTD2 MIR941-3 ZNF512B UCKL1-AS1 DNAJC5 MIR941-2 NPBWR2 SLC2A4RG UCKL1 MYT1 LINC00176 |
esv22562 | Chr.20:64048087 - 64049968 on Build GRCh38 | Loss | SOX18 TCEA2 |
nsv953310 | Chr.20:64017648 - 64160147 on Build GRCh38 | Deletion | SOX18 MIR6813 OPRL1 TCEA2 PRPF6 LKAAEAR1 NPBWR2 LINC00176 RGS19 |
nsv1160691 | Chr.20:63943650 - 64055199 on Build GRCh38 | Deletion | SOX18 SAMD10 TCEA2 ZNF512B PRPF6 UCKL1-AS1 UCKL1 LINC00176 |
dgv7699n54 | Chr.20:64036665 - 64048700 on Build GRCh38 | Loss | SOX18 TCEA2 LINC00176 |
esv2758807 | Chr.20:64006869 - 64334167 on Build GRCh38 | Gain+Loss | SOX18 LINC00266-1 MIR6813 OPRL1 PCMTD2 TCEA2 PRPF6 LKAAEAR1 NPBWR2 MYT1 LINC00176 RGS19 |
nsv586721 | Chr.20:64047196 - 64049671 on Build GRCh38 | Gain | SOX18 TCEA2 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |