Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TMTC1 (transmembrane and tetratricopeptide repeat containing 1)

Identity

Alias_symbol (synonym)ARG99
OLF
FLJ31400
FLJ41625
Other aliasTMTC1A
HGNC (Hugo) TMTC1
LocusID (NCBI) 83857
Atlas_Id 54928
Location 12p11.22  [Link to chromosome band 12p11]
Location_base_pair Starts at 29500813 and ends at 29783810 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
B4GALNT3 (12p13.33) / TMTC1 (12p11.22)PPHLN1 (12q12) / TMTC1 (12p11.22)TMTC1 (12p11.22) / AKAP13 (15q25.3)
TMTC1 (12p11.22) / C1orf122 (1p34.3)TMTC1 (12p11.22) / CANX (5q35.3)TMTC1 (12p11.22) / CASC1 (12p12.1)
TMTC1 12p11.22 / CASC1 12p12.1

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)TMTC1   24099
Cards
Entrez_Gene (NCBI)TMTC1  83857  transmembrane and tetratricopeptide repeat containing 1
AliasesARG99; OLF; TMTC1A
GeneCards (Weizmann)TMTC1
Ensembl hg19 (Hinxton)ENSG00000133687 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133687 [Gene_View]  chr12:29500813-29783810 [Contig_View]  TMTC1 [Vega]
ICGC DataPortalENSG00000133687
TCGA cBioPortalTMTC1
AceView (NCBI)TMTC1
Genatlas (Paris)TMTC1
WikiGenes83857
SOURCE (Princeton)TMTC1
Genetics Home Reference (NIH)TMTC1
Genomic and cartography
GoldenPath hg38 (UCSC)TMTC1  -     chr12:29500813-29783810 -  12p11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMTC1  -     12p11.22   [Description]    (hg19-Feb_2009)
EnsemblTMTC1 - 12p11.22 [CytoView hg19]  TMTC1 - 12p11.22 [CytoView hg38]
Mapping of homologs : NCBITMTC1 [Mapview hg19]  TMTC1 [Mapview hg38]
OMIM615855   
Gene and transcription
Genbank (Entrez)AF319520 AF433169 AK022989 AK055962 AK097137
RefSeq transcript (Entrez)NM_001193451 NM_175861
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMTC1
Cluster EST : UnigeneHs.737514 [ NCBI ]
CGAP (NCI)Hs.737514
Alternative Splicing GalleryENSG00000133687
Gene ExpressionTMTC1 [ NCBI-GEO ]   TMTC1 [ EBI - ARRAY_EXPRESS ]   TMTC1 [ SEEK ]   TMTC1 [ MEM ]
Gene Expression Viewer (FireBrowse)TMTC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83857
GTEX Portal (Tissue expression)TMTC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IUR5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IUR5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IUR5
Splice isoforms : SwissVarQ8IUR5
PhosPhoSitePlusQ8IUR5
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)DUF1736    HAT    TPR-contain_dom    TPR-like_helical_dom    TPR_2    TPR_repeat   
Domain families : Pfam (Sanger)DUF1736 (PF08409)    TPR_2 (PF07719)    TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam08409    pfam07719    pfam13181   
Domain families : Smart (EMBL)HAT (SM00386)  TPR (SM00028)  
Conserved Domain (NCBI)TMTC1
DMDM Disease mutations83857
Blocks (Seattle)TMTC1
SuperfamilyQ8IUR5
Human Protein AtlasENSG00000133687
Peptide AtlasQ8IUR5
HPRD12472
IPIIPI00216822   IPI00043430   IPI00444554   IPI00795924   IPI00977296   IPI00553041   IPI01022630   IPI01022456   IPI01022335   IPI00981779   
Protein Interaction databases
DIP (DOE-UCLA)Q8IUR5
IntAct (EBI)Q8IUR5
FunCoupENSG00000133687
BioGRIDTMTC1
STRING (EMBL)TMTC1
ZODIACTMTC1
Ontologies - Pathways
QuickGOQ8IUR5
Ontology : AmiGOmitochondrion  RNA processing  integral component of membrane  
Ontology : EGO-EBImitochondrion  RNA processing  integral component of membrane  
NDEx NetworkTMTC1
Atlas of Cancer Signalling NetworkTMTC1
Wikipedia pathwaysTMTC1
Orthology - Evolution
OrthoDB83857
GeneTree (enSembl)ENSG00000133687
Phylogenetic Trees/Animal Genes : TreeFamTMTC1
HOVERGENQ8IUR5
HOGENOMQ8IUR5
Homologs : HomoloGeneTMTC1
Homology/Alignments : Family Browser (UCSC)TMTC1
Gene fusions - Rearrangements
Fusion : MitelmanTMTC1/CASC1 [12p11.22/12p12.1]  
Fusion: TCGATMTC1 12p11.22 CASC1 12p12.1 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMTC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMTC1
dbVarTMTC1
ClinVarTMTC1
1000_GenomesTMTC1 
Exome Variant ServerTMTC1
ExAC (Exome Aggregation Consortium)TMTC1 (select the gene name)
Genetic variants : HAPMAP83857
Genomic Variants (DGV)TMTC1 [DGVbeta]
DECIPHERTMTC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMTC1 
Mutations
ICGC Data PortalTMTC1 
TCGA Data PortalTMTC1 
Broad Tumor PortalTMTC1
OASIS PortalTMTC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMTC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMTC1
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TMTC1
DgiDB (Drug Gene Interaction Database)TMTC1
DoCM (Curated mutations)TMTC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMTC1 (select a term)
intoGenTMTC1
Cancer3DTMTC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615855   
Orphanet
MedgenTMTC1
Genetic Testing Registry TMTC1
NextProtQ8IUR5 [Medical]
TSGene83857
GENETestsTMTC1
Huge Navigator TMTC1 [HugePedia]
snp3D : Map Gene to Disease83857
BioCentury BCIQTMTC1
ClinGenTMTC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83857
Chemical/Pharm GKB GenePA142670718
Clinical trialTMTC1
Miscellaneous
canSAR (ICR)TMTC1 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMTC1
EVEXTMTC1
GoPubMedTMTC1
iHOPTMTC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:41:31 CEST 2017

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