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 Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TMLHE | NM_001184797.1 | 2 | 267 | NP_001171726.1 |
NM_018196.3 | 2 | 267 | NP_060666.1 | |
XM_011531182.2 | XP_011529484.1 | |||
XM_017029620.1 | 2 | 267 | XP_016885109.1 | |
AF373407.1 | 2 | 138 | AAL01871.1 | |
AK001589.1 | 2 | 242 | BAA91775.1 | |
AK291694.1 | 2 | 205 | ||
BC025269.1 | 2 | 183 | AAH25269.1 | |
CR457265.1 | 1 | 96 | CAG33546.1 | |
DA323339.1 | 2 | 263 | ||
DB174485.1 | 2 | 270 |
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 | SPRY3 HCFC1 MIR6858 MIR1184-1 RAB39B TEX28 MTCP1 CH17-340M24.3 GAB3 FUNDC2 FAM50A PLXNA3 OPN1MW3 MPP1 MIR3202-2 ATP6AP1 SNORA56 CTAG2 HCFC1-AS1 VBP1 TMLHE OPN1MW2 TAZ FAM3A UBL4A LOC105373386 TMLHE-AS1 LOC101927830 F8A1 FAM223A TKTL1 IRAK1 FAM223B SLC10A3 H2AFB1 MIR1184-2 OPN1MW CTAG1A DKC1 SNORA36A TMEM187 LAGE3 LOC107987332 OPN1LW H2AFB2 BRCC3 F8 FLNA CMC4 RPL10 G6PD F8A3 CTAG1B H2AFB3 CLIC2 MIR1184-3 MIR3202-1 F8A2 MECP2 DNASE1L1 MIR664B SNORA70 GDI1 SMIM9 MIR718 IKBKG EMD |
nsv519485 | Chr.X:155507715 - 155699751 on Build GRCh38 | Loss | SPRY3 TMLHE |
nsv520699 | Chr.X:155545002 - 155699751 on Build GRCh38 | Gain | SPRY3 TMLHE |
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 | SPRY3 CMC4 H2AFB1 MIR1184-2 F8A3 H2AFB3 CLIC2 MIR1184-1 MIR1184-3 VBP1 RAB39B F8A2 TMLHE H2AFB2 MTCP1 BRCC3 SMIM9 F8 TMLHE-AS1 LOC101927830 FUNDC2 F8A1 MPP1 |
esv2670601 | Chr.X:155532618 - 155548599 on Build GRCh38 | Deletion | TMLHE |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |