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 2 |
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 | ||||
BC025269.1 | AAH25269.1 | |||
CR457265.1 | CAG33546.1 | |||
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 | SNORA36A OPN1MW FAM223A H2AFB1 OPN1MW3 MPP1 DNASE1L1 MIR1184-2 F8A3 MIR664B UBL4A TMLHE FLNA OPN1LW DKC1 CTAG1A H2AFB3 CTAG1B OPN1MW2 MIR1184-3 FAM3A LOC101927830 HCFC1 LOC105373386 VBP1 TAZ BRCC3 F8 RPL10 F8A1 TEX28 F8A2 CTAG2 CLIC2 MIR718 GAB3 RAB39B CMC4 LOC107987332 ATP6AP1 MIR6858 H2AFB2 TMLHE-AS1 SNORA70 SPRY3 MTCP1 G6PD SLC10A3 PLXNA3 MIR3202-1 FUNDC2 FAM50A MIR3202-2 SMIM9 TMEM187 HCFC1-AS1 IKBKG IRAK1 SNORA56 MIR1184-1 GDI1 LAGE3 FAM223B MECP2 CH17-340M24.3 EMD TKTL1 |
nsv519485 | Chr.X:155507715 - 155699751 on Build GRCh38 | Loss | SPRY3 TMLHE |
esv3575074 | Chr.X:155534047 - 155546277 on Build GRCh38 | Loss | TMLHE |
esv29972 | Chr.X:154781072 - 155699751 on Build GRCh38 | Gain | MIR1184-3 CLIC2 H2AFB1 LOC101927830 RAB39B MPP1 MIR1184-2 CMC4 SMIM9 F8A3 VBP1 TMLHE BRCC3 F8 H2AFB2 H2AFB3 MIR1184-1 TMLHE-AS1 F8A1 SPRY3 MTCP1 F8A2 FUNDC2 |
esv2670601 | Chr.X:155532618 - 155548599 on Build GRCh38 | Deletion | TMLHE |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |