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