Assay Details
Target Gene Details
Entrez Gene ID: | 55217 |
Gene Name: | trimethyllysine hydroxylase, epsilon |
Gene Aliases: |
AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130 |
Location: |
Chr.X:155489007-155612961 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TMLHE | NM_001184797.1 | 6 | 1009 | NP_001171726.1 |
NM_018196.3 | 6 | 1009 | NP_060666.1 | |
XM_011531182.2 | 6 | 877 | XP_011529484.1 | |
AF373407.1 | 6 | 880 | AAL01871.1 | |
AK001589.1 | 6 | 984 | BAA91775.1 | |
AK291694.1 | 6 | 947 | ||
AK304830.1 | 4 | 643 | ||
AK310667.1 | 4 | 644 | ||
BC025269.1 | 6 | 925 | AAH25269.1 | |
CR457265.1 | 5 | 838 | CAG33546.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv33784 | Chr.X:153962665 - 155699588 on Build GRCh38 | Gain+Loss | SPRY3 EMD CTAG2 TKTL1 ATP6AP1 BRCC3 UBL4A MPP1 OPN1MW FUNDC2 MIR1184-1 MIR664B TMLHE VBP1 RAB39B SNORA56 FAM3A TMEM187 CTAG1B FAM223B CLIC2 TAZ OPN1MW2 PLXNA3 DKC1 GAB3 SNORA70 DNASE1L1 MIR1184-3 F8A1 LOC101927830 SNORA36A RPL10 F8A3 MIR6858 MIR3202-2 IKBKG SMIM9 FAM50A H2AFB3 H2AFB2 MECP2 LAGE3 TMLHE-AS1 HCFC1-AS1 OPN1LW LOC107987332 FLNA MIR1184-2 FAM223A H2AFB1 MIR718 MIR3202-1 SLC10A3 CMC4 OPN1MW3 CH17-340M24.3 MTCP1 IRAK1 LOC105373386 GDI1 TEX28 F8A2 HCFC1 F8 CTAG1A G6PD |
dgv2549e212 | Chr.X:155439669 - 155509839 on Build GRCh38 | Gain | TMLHE-AS1 TMLHE F8A3 MIR1184-3 H2AFB3 |
esv29972 | Chr.X:154781072 - 155699751 on Build GRCh38 | Gain | MIR1184-2 H2AFB1 TMLHE SPRY3 VBP1 F8A3 RAB39B CMC4 SMIM9 MTCP1 CLIC2 H2AFB3 H2AFB2 F8A2 BRCC3 TMLHE-AS1 F8 MPP1 MIR1184-3 F8A1 LOC101927830 FUNDC2 MIR1184-1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |