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 4 |
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 | ||||
AK304830.1 | ||||
AK310667.1 | ||||
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 | MIR3202-2 CH17-340M24.3 F8A2 EMD HCFC1-AS1 SNORA56 H2AFB3 CMC4 F8A1 F8A3 MPP1 SMIM9 OPN1MW TMLHE-AS1 OPN1MW3 LOC105373386 PLXNA3 MIR3202-1 HCFC1 FUNDC2 FAM223A LOC101927830 OPN1LW UBL4A RAB39B IKBKG GDI1 G6PD SNORA36A H2AFB2 MECP2 TAZ CLIC2 LOC107987332 OPN1MW2 F8 ATP6AP1 TKTL1 DNASE1L1 MTCP1 SNORA70 TMEM187 FAM3A MIR6858 FAM223B LAGE3 SLC10A3 MIR718 CTAG1A DKC1 MIR1184-2 TMLHE RPL10 MIR1184-1 FAM50A FLNA MIR1184-3 VBP1 CTAG1B H2AFB1 IRAK1 BRCC3 TEX28 CTAG2 SPRY3 MIR664B GAB3 |
nsv519485 | Chr.X:155507715 - 155699751 on Build GRCh38 | Loss | SPRY3 TMLHE |
esv29972 | Chr.X:154781072 - 155699751 on Build GRCh38 | Gain | FUNDC2 F8 F8A2 LOC101927830 MIR1184-1 H2AFB3 CMC4 F8A1 F8A3 MPP1 MIR1184-3 VBP1 MTCP1 RAB39B H2AFB1 BRCC3 SMIM9 H2AFB2 SPRY3 CLIC2 TMLHE-AS1 MIR1184-2 TMLHE |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |