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 |
---|---|---|---|
nsv953711 | Chr.X:155560540 - 155573939 on Build GRCh38 | Deletion | TMLHE |
nsv510869 | Chr.X:155552481 - 155600316 on Build GRCh38 | Deletion | TMLHE |
nsv512705 | Chr.X:155560384 - 155574125 on Build GRCh38 | Loss | TMLHE |
esv3559520 | Chr.X:155560340 - 155573872 on Build GRCh38 | Deletion | TMLHE |
nsv519485 | Chr.X:155507715 - 155699751 on Build GRCh38 | Loss | SPRY3 TMLHE |
nsv7162 | Chr.X:155545842 - 155591711 on Build GRCh38 | Deletion | TMLHE |
esv3575078 | Chr.X:155556315 - 155574027 on Build GRCh38 | Loss | TMLHE |
nsv829418 | Chr.X:155560367 - 155567918 on Build GRCh38 | Loss | TMLHE |
esv29972 | Chr.X:154781072 - 155699751 on Build GRCh38 | Gain | MIR1184-1 F8A3 TMLHE-AS1 F8A2 TMLHE RAB39B F8A1 MPP1 MIR1184-3 MIR1184-2 CLIC2 SMIM9 H2AFB3 SPRY3 F8 BRCC3 LOC101927830 CMC4 H2AFB1 MTCP1 H2AFB2 VBP1 FUNDC2 |
esv24821 | Chr.X:155552998 - 155574053 on Build GRCh38 | Gain+Loss | TMLHE |
esv33784 | Chr.X:153962665 - 155699588 on Build GRCh38 | Gain+Loss | OPN1MW3 TAZ OPN1MW2 F8A2 TMLHE RAB39B HCFC1 SMIM9 LOC101927830 CMC4 UBL4A MTCP1 H2AFB2 VBP1 LOC105373386 MIR1184-1 OPN1MW MIR3202-1 G6PD FAM50A TKTL1 TEX28 MIR1184-3 MIR664B DKC1 H2AFB3 IKBKG PLXNA3 MIR718 LOC107987332 EMD MIR6858 HCFC1-AS1 DNASE1L1 F8A3 TMLHE-AS1 ATP6AP1 SNORA36A TMEM187 FAM223A LAGE3 SNORA56 F8A1 MPP1 CH17-340M24.3 MIR1184-2 MECP2 CLIC2 RPL10 F8 BRCC3 FAM3A H2AFB1 FLNA CTAG2 IRAK1 MIR3202-2 FAM223B CTAG1A OPN1LW SPRY3 SNORA70 GAB3 GDI1 SLC10A3 FUNDC2 CTAG1B |
nsv520699 | Chr.X:155545002 - 155699751 on Build GRCh38 | Gain | SPRY3 TMLHE |
nsv511652 | Chr.X:155551462 - 155586778 on Build GRCh38 | Loss | TMLHE |
esv2994901 | Chr.X:155560339 - 155568339 on Build GRCh38 | Deletion | TMLHE |
esv1007887 | Chr.X:155560007 - 155573754 on Build GRCh38 | Deletion | TMLHE |
nsv1137701 | Chr.X:155560539 - 155569939 on Build GRCh38 | Deletion | TMLHE |
nsv499386 | Chr.X:155560528 - 155573610 on Build GRCh38 | Loss | TMLHE |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |