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 1 |
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_017029620.1 | XP_016885109.1 | |||
AF373407.1 | AAL01871.1 | |||
AK001589.1 | BAA91775.1 | |||
AK291694.1 | ||||
BC025269.1 | AAH25269.1 | |||
DA323339.1 | ||||
DB174485.1 |
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 | MIR3202-1 MIR3202-2 PLXNA3 FAM223A CTAG1B LOC101927830 GDI1 DNASE1L1 MIR1184-2 OPN1MW3 F8A1 OPN1MW2 RPL10 TMLHE SPRY3 MTCP1 SLC10A3 OPN1LW FLNA DKC1 H2AFB3 TKTL1 MPP1 BRCC3 FAM3A LOC105373386 SNORA36A RAB39B FUNDC2 G6PD MIR6858 MIR1184-1 F8A2 IKBKG TMLHE-AS1 CTAG2 CMC4 CTAG1A LAGE3 TEX28 F8A3 FAM223B SNORA70 GAB3 ATP6AP1 MIR718 EMD FAM50A VBP1 HCFC1-AS1 OPN1MW SMIM9 TMEM187 H2AFB1 MIR1184-3 H2AFB2 IRAK1 UBL4A MIR664B CH17-340M24.3 MECP2 SNORA56 CLIC2 HCFC1 TAZ LOC107987332 F8 |
nsv519485 | Chr.X:155507715 - 155699751 on Build GRCh38 | Loss | TMLHE SPRY3 |
nsv520699 | Chr.X:155545002 - 155699751 on Build GRCh38 | Gain | TMLHE SPRY3 |
esv29972 | Chr.X:154781072 - 155699751 on Build GRCh38 | Gain | SMIM9 H2AFB1 MIR1184-3 CMC4 H2AFB2 F8A3 LOC101927830 MIR1184-2 H2AFB3 MPP1 BRCC3 RAB39B CLIC2 F8A1 FUNDC2 VBP1 MIR1184-1 F8A2 TMLHE F8 SPRY3 MTCP1 TMLHE-AS1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |