Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TMLHE (trimethyllysine hydroxylase, epsilon)

Identity

Alias (NCBI)AUTSX6
BBOX2
TMLD
TMLH
TMLHED
XAP130
HGNC (Hugo) TMLHE
HGNC Alias symbTMLH
FLJ10727
BBOX2
XAP130
HGNC Alias namebutyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2
LocusID (NCBI) 55217
Atlas_Id 54716
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 155489011 and ends at 155612952 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
TMLHE (Xq28) / NEDD9 (6p24.2)TMLHE Xq28 / NEDD9 6p24.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)TMLHE   18308
Cards
Entrez_Gene (NCBI)TMLHE    trimethyllysine hydroxylase, epsilon
AliasesAUTSX6; BBOX2; TMLD; TMLH; 
TMLHED; XAP130
GeneCards (Weizmann)TMLHE
Ensembl hg19 (Hinxton)ENSG00000185973 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185973 [Gene_View]  ENSG00000185973 [Sequence]  chrX:155489011-155612952 [Contig_View]  TMLHE [Vega]
ICGC DataPortalENSG00000185973
TCGA cBioPortalTMLHE
AceView (NCBI)TMLHE
Genatlas (Paris)TMLHE
SOURCE (Princeton)TMLHE
Genetics Home Reference (NIH)TMLHE
Genomic and cartography
GoldenPath hg38 (UCSC)TMLHE  -     chrX:155489011-155612952 -  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMLHE  -     Xq28   [Description]    (hg19-Feb_2009)
GoldenPathTMLHE - Xq28 [CytoView hg19]  TMLHE - Xq28 [CytoView hg38]
ImmunoBaseENSG00000185973
Genome Data Viewer NCBITMLHE [Mapview hg19]  
OMIM300777   300872   
Gene and transcription
Genbank (Entrez)AF373407 AK001589 AK291694 AK304830 AK310667
RefSeq transcript (Entrez)NM_001184797 NM_018196
Consensus coding sequences : CCDS (NCBI)TMLHE
Gene ExpressionTMLHE [ NCBI-GEO ]   TMLHE [ EBI - ARRAY_EXPRESS ]   TMLHE [ SEEK ]   TMLHE [ MEM ]
Gene Expression Viewer (FireBrowse)TMLHE [ Firebrowse - Broad ]
GenevisibleExpression of TMLHE in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55217
GTEX Portal (Tissue expression)TMLHE
Human Protein AtlasENSG00000185973-TMLHE [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NVH6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NVH6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NVH6
PhosPhoSitePlusQ9NVH6
Domains : Interpro (EBI)GBBH-like_N    GBBH-like_N_sf    TauD-like_sf    TauD/TfdA-like    Trimethyllysine_dOase   
Domain families : Pfam (Sanger)GBBH-like_N (PF06155)    TauD (PF02668)   
Domain families : Pfam (NCBI)pfam06155    pfam02668   
Conserved Domain (NCBI)TMLHE
SuperfamilyQ9NVH6
AlphaFold pdb e-kbQ9NVH6   
Human Protein Atlas [tissue]ENSG00000185973-TMLHE [tissue]
HPRD06743
Protein Interaction databases
DIP (DOE-UCLA)Q9NVH6
IntAct (EBI)Q9NVH6
BioGRIDTMLHE
STRING (EMBL)TMLHE
ZODIACTMLHE
Ontologies - Pathways
QuickGOQ9NVH6
Ontology : AmiGOiron ion binding  mitochondrion  mitochondrion  mitochondrial matrix  carnitine biosynthetic process  carnitine biosynthetic process  carnitine biosynthetic process  carnitine biosynthetic process  trimethyllysine dioxygenase activity  
Ontology : EGO-EBIiron ion binding  mitochondrion  mitochondrion  mitochondrial matrix  carnitine biosynthetic process  carnitine biosynthetic process  carnitine biosynthetic process  carnitine biosynthetic process  trimethyllysine dioxygenase activity  
Pathways : KEGGLysine degradation   
NDEx NetworkTMLHE
Atlas of Cancer Signalling NetworkTMLHE
Wikipedia pathwaysTMLHE
Orthology - Evolution
OrthoDB55217
GeneTree (enSembl)ENSG00000185973
Phylogenetic Trees/Animal Genes : TreeFamTMLHE
Homologs : HomoloGeneTMLHE
Homology/Alignments : Family Browser (UCSC)TMLHE
Gene fusions - Rearrangements
Fusion : MitelmanTMLHE/NEDD9 [Xq28/6p24.2]  
Fusion : QuiverTMLHE
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMLHE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMLHE
dbVarTMLHE
ClinVarTMLHE
MonarchTMLHE
1000_GenomesTMLHE 
Exome Variant ServerTMLHE
GNOMAD BrowserENSG00000185973
Varsome BrowserTMLHE
ACMGTMLHE variants
VarityQ9NVH6
Genomic Variants (DGV)TMLHE [DGVbeta]
DECIPHERTMLHE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMLHE 
Mutations
ICGC Data PortalTMLHE 
TCGA Data PortalTMLHE 
Broad Tumor PortalTMLHE
OASIS PortalTMLHE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMLHE  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMLHE
Mutations and Diseases : HGMDTMLHE
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTMLHE
DgiDB (Drug Gene Interaction Database)TMLHE
DoCM (Curated mutations)TMLHE
CIViC (Clinical Interpretations of Variants in Cancer)TMLHE
Cancer3DTMLHE
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300777    300872   
Orphanet
DisGeNETTMLHE
MedgenTMLHE
Genetic Testing Registry TMLHE
NextProtQ9NVH6 [Medical]
GENETestsTMLHE
Target ValidationTMLHE
Huge Navigator TMLHE [HugePedia]
ClinGenTMLHE (curated)
Clinical trials, drugs, therapy
MyCancerGenomeTMLHE
Protein Interactions : CTDTMLHE
Pharm GKB GenePA38311
PharosQ9NVH6
Clinical trialTMLHE
Miscellaneous
canSAR (ICR)TMLHE
HarmonizomeTMLHE
DataMed IndexTMLHE
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMLHE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:35:35 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.