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 |
---|---|---|---|
nsv510869 | Chr.X:155552481 - 155600316 on Build GRCh38 | Deletion | TMLHE |
esv33784 | Chr.X:153962665 - 155699588 on Build GRCh38 | Gain+Loss | HCFC1-AS1 IRAK1 OPN1MW MIR6858 FUNDC2 FAM3A MIR664B H2AFB3 CLIC2 MIR1184-3 BRCC3 F8 CTAG1B TEX28 FAM223A MTCP1 HCFC1 CMC4 IKBKG OPN1MW3 MIR3202-1 H2AFB2 MIR1184-2 RAB39B H2AFB1 SMIM9 FLNA ATP6AP1 TKTL1 MIR1184-1 SNORA36A TMLHE-AS1 SNORA56 TMEM187 F8A1 G6PD MIR3202-2 MPP1 GDI1 FAM50A OPN1LW CH17-340M24.3 CTAG1A F8A2 TAZ MECP2 F8A3 SLC10A3 LAGE3 VBP1 FAM223B EMD DKC1 LOC107987332 UBL4A DNASE1L1 MIR718 GAB3 OPN1MW2 SPRY3 PLXNA3 LOC105373386 SNORA70 LOC101927830 CTAG2 TMLHE RPL10 |
nsv519485 | Chr.X:155507715 - 155699751 on Build GRCh38 | Loss | SPRY3 TMLHE |
nsv7162 | Chr.X:155545842 - 155591711 on Build GRCh38 | Deletion | TMLHE |
nsv520699 | Chr.X:155545002 - 155699751 on Build GRCh38 | Gain | SPRY3 TMLHE |
esv3575078 | Chr.X:155556315 - 155574027 on Build GRCh38 | Loss | TMLHE |
nsv511652 | Chr.X:155551462 - 155586778 on Build GRCh38 | Loss | TMLHE |
esv29972 | Chr.X:154781072 - 155699751 on Build GRCh38 | Gain | FUNDC2 F8A2 H2AFB2 H2AFB3 MIR1184-2 RAB39B CLIC2 MIR1184-3 BRCC3 H2AFB1 SMIM9 F8 F8A3 SPRY3 MIR1184-1 VBP1 TMLHE-AS1 F8A1 MTCP1 LOC101927830 CMC4 TMLHE MPP1 |
esv1007887 | Chr.X:155560007 - 155573754 on Build GRCh38 | Deletion | TMLHE |
esv24821 | Chr.X:155552998 - 155574053 on Build GRCh38 | Gain+Loss | TMLHE |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |