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 Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TMLHE | NM_001184797.1 | NP_001171726.1 | ||
NM_018196.3 | NP_060666.1 | |||
XM_011531182.2 | XP_011529484.1 | |||
XM_017029620.1 | XP_016885109.1 | |||
AF373407.1 | AAL01871.1 | |||
AK001589.1 | BAA91775.1 | |||
AK291694.1 | ||||
AK304830.1 | ||||
AK310667.1 | ||||
BC025269.1 | AAH25269.1 | |||
CR457265.1 | 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 | TMEM187 SLC10A3 HCFC1-AS1 F8 MPP1 SNORA36A TKTL1 GDI1 TEX28 LAGE3 CLIC2 GAB3 OPN1MW3 OPN1MW2 LOC101927830 BRCC3 CTAG1A G6PD MIR1184-3 FAM223A RAB39B LOC105373386 SMIM9 SNORA70 TMLHE-AS1 CH17-340M24.3 MIR6858 HCFC1 F8A1 TMLHE CTAG2 OPN1MW FUNDC2 F8A3 EMD OPN1LW DNASE1L1 MIR1184-2 F8A2 FAM223B DKC1 UBL4A IRAK1 MIR3202-2 TAZ MIR718 MTCP1 FAM3A FAM50A VBP1 H2AFB2 MIR664B SPRY3 H2AFB1 MECP2 CMC4 RPL10 ATP6AP1 MIR1184-1 IKBKG FLNA LOC107987332 H2AFB3 CTAG1B MIR3202-1 SNORA56 PLXNA3 |
nsv519485 | Chr.X:155507715 - 155699751 on Build GRCh38 | Loss | TMLHE SPRY3 |
esv29972 | Chr.X:154781072 - 155699751 on Build GRCh38 | Gain | MTCP1 SMIM9 TMLHE-AS1 VBP1 H2AFB2 F8 MIR1184-2 SPRY3 MPP1 H2AFB1 F8A1 CMC4 F8A2 TMLHE MIR1184-1 CLIC2 H2AFB3 FUNDC2 F8A3 LOC101927830 BRCC3 MIR1184-3 RAB39B |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |