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 | LAGE3 G6PD SMIM9 IRAK1 ATP6AP1 F8A1 CMC4 VBP1 SLC10A3 MPP1 HCFC1 SNORA36A SNORA70 F8 FAM223B CTAG1A MIR1184-3 GDI1 CLIC2 LOC101927830 FLNA MIR3202-2 RAB39B H2AFB2 IKBKG PLXNA3 SPRY3 F8A3 TMLHE-AS1 FAM3A TMEM187 OPN1LW FAM223A MTCP1 MIR6858 MIR664B UBL4A F8A2 TAZ DKC1 TMLHE CTAG2 OPN1MW2 CH17-340M24.3 MECP2 MIR718 DNASE1L1 FUNDC2 H2AFB1 MIR1184-2 CTAG1B TEX28 GAB3 BRCC3 HCFC1-AS1 LOC105373386 LOC107987332 OPN1MW MIR1184-1 FAM50A MIR3202-1 RPL10 OPN1MW3 EMD SNORA56 H2AFB3 TKTL1 |
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 |
esv3575074 | Chr.X:155534047 - 155546277 on Build GRCh38 | Loss | TMLHE |
esv3575076 | Chr.X:155542667 - 155550103 on Build GRCh38 | Loss | TMLHE |
esv29972 | Chr.X:154781072 - 155699751 on Build GRCh38 | Gain | MIR1184-2 MIR1184-3 SMIM9 F8A2 BRCC3 CLIC2 LOC101927830 RAB39B H2AFB2 SPRY3 F8A1 CMC4 F8A3 VBP1 MPP1 TMLHE TMLHE-AS1 MIR1184-1 MTCP1 F8 FUNDC2 H2AFB1 H2AFB3 |
esv2670601 | Chr.X:155532618 - 155548599 on Build GRCh38 | Deletion | TMLHE |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |