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 | SPRY3 H2AFB2 MPP1 F8A1 MIR1184-3 H2AFB3 CLIC2 H2AFB1 LOC101927830 F8A3 CMC4 F8A2 MTCP1 SMIM9 VBP1 TMLHE BRCC3 MIR1184-1 F8 TMLHE-AS1 RAB39B FUNDC2 MIR1184-2 |
esv24821 | Chr.X:155552998 - 155574053 on Build GRCh38 | Gain+Loss | TMLHE |
nsv515187 | Chr.X:155563801 - 155567513 on Build GRCh38 | Loss | TMLHE |
nsv829420 | Chr.X:155563604 - 155567654 on Build GRCh38 | Loss | TMLHE |
esv33784 | Chr.X:153962665 - 155699588 on Build GRCh38 | Gain+Loss | DNASE1L1 MIR1184-3 LOC105373386 LOC101927830 OPN1LW F8A3 CH17-340M24.3 FAM3A FLNA VBP1 FAM223A BRCC3 SNORA70 F8 MIR3202-2 GAB3 LAGE3 MIR664B FAM50A IKBKG GDI1 MIR1184-2 H2AFB2 CTAG2 F8A1 CTAG1B CMC4 F8A2 UBL4A SMIM9 MIR3202-1 TMLHE HCFC1-AS1 CTAG1A ATP6AP1 MIR6858 RAB39B OPN1MW3 SNORA36A FUNDC2 RPL10 IRAK1 SPRY3 SNORA56 CLIC2 H2AFB1 EMD MIR718 TAZ OPN1MW HCFC1 MECP2 TEX28 TMEM187 SLC10A3 G6PD PLXNA3 TKTL1 FAM223B MPP1 H2AFB3 DKC1 LOC107987332 MTCP1 MIR1184-1 OPN1MW2 TMLHE-AS1 |
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 |