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 | F8A2 OPN1MW3 MIR3202-2 CTAG2 DNASE1L1 CTAG1A IKBKG TMLHE G6PD H2AFB1 SPRY3 TKTL1 GAB3 RAB39B MIR3202-1 F8A1 SNORA36A H2AFB2 SLC10A3 TAZ FAM3A CTAG1B MIR718 TEX28 LOC107987332 HCFC1-AS1 FAM223B IRAK1 MIR1184-1 OPN1MW2 TMLHE-AS1 OPN1LW LOC101927830 TMEM187 FAM50A MIR1184-2 SNORA70 BRCC3 MPP1 ATP6AP1 OPN1MW CLIC2 LAGE3 LOC105373386 MIR664B CMC4 PLXNA3 UBL4A H2AFB3 DKC1 MTCP1 SNORA56 CH17-340M24.3 MIR6858 VBP1 EMD FAM223A MIR1184-3 FLNA MECP2 RPL10 SMIM9 FUNDC2 F8 F8A3 HCFC1 GDI1 |
nsv519485 | Chr.X:155507715 - 155699751 on Build GRCh38 | Loss | TMLHE SPRY3 |
nsv7162 | Chr.X:155545842 - 155591711 on Build GRCh38 | Deletion | TMLHE |
nsv520699 | Chr.X:155545002 - 155699751 on Build GRCh38 | Gain | TMLHE SPRY3 |
esv3575076 | Chr.X:155542667 - 155550103 on Build GRCh38 | Loss | TMLHE |
esv29972 | Chr.X:154781072 - 155699751 on Build GRCh38 | Gain | F8A2 H2AFB2 MIR1184-2 BRCC3 TMLHE MPP1 H2AFB1 SPRY3 VBP1 CLIC2 MIR1184-3 CMC4 H2AFB3 RAB39B MIR1184-1 MTCP1 SMIM9 FUNDC2 F8A1 F8 TMLHE-AS1 F8A3 LOC101927830 |
esv2670601 | Chr.X:155532618 - 155548599 on Build GRCh38 | Deletion | TMLHE |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |