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 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TMLHE | NM_001184797.1 | 3 | 446 | NP_001171726.1 |
NM_018196.3 | 3 | 446 | NP_060666.1 | |
XM_011531182.2 | 3 | 314 | XP_011529484.1 | |
XM_017029620.1 | 3 | 446 | XP_016885109.1 | |
AF373407.1 | 3 | 317 | AAL01871.1 | |
AK001589.1 | 3 | 421 | BAA91775.1 | |
AK291694.1 | 3 | 384 | ||
AK304830.1 | 1 | 80 | ||
AK310667.1 | 1 | 81 | ||
BC025269.1 | 3 | 362 | AAH25269.1 | |
CR457265.1 | 2 | 275 | CAG33546.1 | |
DA323339.1 | 3 | 442 | ||
DB174485.1 | 3 | 450 |
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 | IKBKG LOC101927830 HCFC1 CTAG1A FAM223A BRCC3 HCFC1-AS1 SMIM9 F8 MIR6858 H2AFB1 FUNDC2 MECP2 CTAG1B LAGE3 UBL4A F8A1 TMLHE-AS1 SLC10A3 SNORA56 SPRY3 F8A3 F8A2 ATP6AP1 SNORA70 SNORA36A OPN1MW OPN1MW2 TMEM187 TEX28 GDI1 MIR1184-1 PLXNA3 TMLHE MIR1184-3 FAM50A OPN1LW TAZ OPN1MW3 H2AFB2 MIR1184-2 MPP1 LOC105373386 CH17-340M24.3 FAM223B EMD FAM3A IRAK1 TKTL1 VBP1 H2AFB3 RAB39B CLIC2 DNASE1L1 DKC1 MIR718 GAB3 MIR3202-1 MTCP1 FLNA CTAG2 G6PD LOC107987332 MIR664B MIR3202-2 RPL10 CMC4 |
nsv519485 | Chr.X:155507715 - 155699751 on Build GRCh38 | Loss | SPRY3 TMLHE |
esv29972 | Chr.X:154781072 - 155699751 on Build GRCh38 | Gain | F8A1 TMLHE-AS1 SPRY3 LOC101927830 F8A3 H2AFB2 MIR1184-2 F8A2 MPP1 BRCC3 MTCP1 SMIM9 F8 MIR1184-1 VBP1 H2AFB3 CMC4 RAB39B H2AFB1 FUNDC2 TMLHE CLIC2 MIR1184-3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |