Atlas of Genetics and Cytogenetics in Oncology and Haematology


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LRTOMT (leucine rich transmembrane and O-methyltransferase domain containing)

Identity

Alias_namesLRRC51
DFNB63
leucine rich repeat containing 51
deafness, autosomal recessive 63
Alias_symbol (synonym)COMT2
CFAP111
Other alias
HGNC (Hugo) LRTOMT
LocusID (NCBI) 220074
Atlas_Id 68678
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 72080331 and ends at 72096892 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LRTOMT (11q13.4) / LRTOMT (11q13.4)LRTOMT (11q13.4) / METTL25 (12q21.31)LRTOMT (11q13.4) / MTSS1L (16q22.1)
LRTOMT (11q13.4) / NFIC (19p13.3)LRTOMT (11q13.4) / TOMM40 (19q13.32)LRTOMT (11q13.4) / UVRAG (11q13.5)
MDH1 (2p15) / LRTOMT (11q13.4)SHANK2 (11q13.3) / LRTOMT (11q13.4)UVRAG (11q13.5) / LRTOMT (11q13.4)
LRTOMT UVRAGLRTOMT NFICSHANK2 LRTOMT
UVRAG LRTOMT

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)LRTOMT   25033
Cards
Entrez_Gene (NCBI)LRTOMT  220074  leucine rich transmembrane and O-methyltransferase domain containing
AliasesCFAP111; DFNB63; LRRC51
GeneCards (Weizmann)LRTOMT
Ensembl hg19 (Hinxton)ENSG00000184154 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184154 [Gene_View]  chr11:72080331-72096892 [Contig_View]  LRTOMT [Vega]
ICGC DataPortalENSG00000184154
TCGA cBioPortalLRTOMT
AceView (NCBI)LRTOMT
Genatlas (Paris)LRTOMT
WikiGenes220074
SOURCE (Princeton)LRTOMT
Genetics Home Reference (NIH)LRTOMT
Genomic and cartography
GoldenPath hg38 (UCSC)LRTOMT  -     chr11:72080331-72096892 +  11q13.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LRTOMT  -     11q13.4   [Description]    (hg19-Feb_2009)
EnsemblLRTOMT - 11q13.4 [CytoView hg19]  LRTOMT - 11q13.4 [CytoView hg38]
Mapping of homologs : NCBILRTOMT [Mapview hg19]  LRTOMT [Mapview hg38]
OMIM611451   612414   
Gene and transcription
Genbank (Entrez)AF289588 AK298997 AK302772 AK311690 AK313150
RefSeq transcript (Entrez)NM_001145307 NM_001145308 NM_001145309 NM_001145310 NM_001205138 NM_001271471 NM_001318803 NM_145309
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LRTOMT
Cluster EST : UnigeneHs.667985 [ NCBI ]
CGAP (NCI)Hs.667985
Alternative Splicing GalleryENSG00000184154
Gene ExpressionLRTOMT [ NCBI-GEO ]   LRTOMT [ EBI - ARRAY_EXPRESS ]   LRTOMT [ SEEK ]   LRTOMT [ MEM ]
Gene Expression Viewer (FireBrowse)LRTOMT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)220074
GTEX Portal (Tissue expression)LRTOMT
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96E66   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96E66  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96E66
Splice isoforms : SwissVarQ96E66
PhosPhoSitePlusQ96E66
Domaine pattern : Prosite (Expaxy)LRR (PS51450)   
Domains : Interpro (EBI)L_dom-like    Leu-rich_rpt   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)LRTOMT
DMDM Disease mutations220074
Blocks (Seattle)LRTOMT
SuperfamilyQ96E66
Human Protein AtlasENSG00000184154
Peptide AtlasQ96E66
HPRD11839
IPIIPI00922926   IPI00103767   IPI00061250   IPI00922825   IPI00926911   IPI00914874   IPI00914888   IPI01009281   IPI01009699   IPI01010203   IPI01008792   IPI01016070   IPI01013585   IPI01013978   IPI00940043   
Protein Interaction databases
DIP (DOE-UCLA)Q96E66
IntAct (EBI)Q96E66
FunCoupENSG00000184154
BioGRIDLRTOMT
STRING (EMBL)LRTOMT
ZODIACLRTOMT
Ontologies - Pathways
QuickGOQ96E66
Ontology : AmiGOcellular_component  cytoplasm  sensory perception of sound  integral component of membrane  catechol O-methyltransferase activity  methylation  neurotransmitter catabolic process  catecholamine catabolic process  auditory receptor cell development  L-dopa O-methyltransferase activity  
Ontology : EGO-EBIcellular_component  cytoplasm  sensory perception of sound  integral component of membrane  catechol O-methyltransferase activity  methylation  neurotransmitter catabolic process  catecholamine catabolic process  auditory receptor cell development  L-dopa O-methyltransferase activity  
NDEx NetworkLRTOMT
Atlas of Cancer Signalling NetworkLRTOMT
Wikipedia pathwaysLRTOMT
Orthology - Evolution
OrthoDB220074
GeneTree (enSembl)ENSG00000184154
Phylogenetic Trees/Animal Genes : TreeFamLRTOMT
HOVERGENQ96E66
HOGENOMQ96E66
Homologs : HomoloGeneLRTOMT
Homology/Alignments : Family Browser (UCSC)LRTOMT
Gene fusions - Rearrangements
Fusion: TCGALRTOMT UVRAG
Fusion: TCGALRTOMT NFIC
Fusion: TCGASHANK2 LRTOMT
Fusion: TCGAUVRAG LRTOMT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLRTOMT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LRTOMT
dbVarLRTOMT
ClinVarLRTOMT
1000_GenomesLRTOMT 
Exome Variant ServerLRTOMT
ExAC (Exome Aggregation Consortium)LRTOMT (select the gene name)
Genetic variants : HAPMAP220074
Genomic Variants (DGV)LRTOMT [DGVbeta]
DECIPHERLRTOMT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLRTOMT 
Mutations
ICGC Data PortalLRTOMT 
TCGA Data PortalLRTOMT 
Broad Tumor PortalLRTOMT
OASIS PortalLRTOMT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLRTOMT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLRTOMT
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LRTOMT
DgiDB (Drug Gene Interaction Database)LRTOMT
DoCM (Curated mutations)LRTOMT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LRTOMT (select a term)
intoGenLRTOMT
Cancer3DLRTOMT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611451    612414   
Orphanet12047   
MedgenLRTOMT
Genetic Testing Registry LRTOMT
NextProtQ96E66 [Medical]
TSGene220074
GENETestsLRTOMT
Target ValidationLRTOMT
Huge Navigator LRTOMT [HugePedia]
snp3D : Map Gene to Disease220074
BioCentury BCIQLRTOMT
ClinGenLRTOMT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD220074
Chemical/Pharm GKB GenePA164722133
Clinical trialLRTOMT
Miscellaneous
canSAR (ICR)LRTOMT (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLRTOMT
EVEXLRTOMT
GoPubMedLRTOMT
iHOPLRTOMT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:26:39 CEST 2017

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