Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TMCC1 (transmembrane and coiled-coil domain family 1)

Identity

Alias_namestransmembrane and coiled-coil domains 1
Alias_symbol (synonym)KIAA0779
Other alias-
HGNC (Hugo) TMCC1
LocusID (NCBI) 23023
Atlas_Id 53055
Location 3q22.1  [Link to chromosome band 3q22]
Location_base_pair Starts at 129647792 and ends at 129688732 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)
CTDSPL (3p22.2) / TMCC1 (3q22.1)PLXND1 (3q22.1) / TMCC1 (3q22.1)RUVBL1 (3q21.3) / TMCC1 (3q22.1)
TMCC1 (3q22.1) / ALDH1L1 (3q21.3)TMCC1 (3q22.1) / ANKHD1 (5q31.3)TMCC1 (3q22.1) / ARSG (17q24.2)
TMCC1 (3q22.1) / C3orf36 (3q22.1)TMCC1 (3q22.1) / DDX5 (17q23.3)TMCC1 (3q22.1) / LSAMP (3q13.31)
TMCC1 (3q22.1) / SNRPB (20p13)TMCC1 (3q22.1) / TMCC1 (3q22.1)PLXND1 3q22.1 / TMCC1 3q22.1
CTDSPL 3p22.2 / TMCC1 3q22.1TMCC1 3q22.1 / ALDH1L1 3q21.3TMCC1 3q22.1 / ARSG 17q24.2
TMCC1 3q22.1 / LSAMP 3q13.31

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 8 ]
  Lung: Translocations in Squamous Cell Carcinoma
del(3)(q22q22) PLXND1/TMCC1
t(3;3)(p22;q22) CTDSPL/TMCC1
t(3;3)(q13;q22) TMCC1/LSAMP
t(3;3)(q21;q22) TMCC1/ALDH1L1
t(3;3)(q21;q22) RUVBL1/TMCC1
TMCC1/C3orf36 (3q22)
t(3;17)(q22;q24) TMCC1/ARSG

External links

Nomenclature
HGNC (Hugo)TMCC1   29116
Cards
Entrez_Gene (NCBI)TMCC1  23023  transmembrane and coiled-coil domain family 1
Aliases
GeneCards (Weizmann)TMCC1
Ensembl hg19 (Hinxton)ENSG00000172765 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172765 [Gene_View]  ENSG00000172765 [Sequence]  chr3:129647792-129688732 [Contig_View]  TMCC1 [Vega]
ICGC DataPortalENSG00000172765
TCGA cBioPortalTMCC1
AceView (NCBI)TMCC1
Genatlas (Paris)TMCC1
WikiGenes23023
SOURCE (Princeton)TMCC1
Genetics Home Reference (NIH)TMCC1
Genomic and cartography
GoldenPath hg38 (UCSC)TMCC1  -     chr3:129647792-129688732 -  3q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMCC1  -     3q22.1   [Description]    (hg19-Feb_2009)
GoldenPathTMCC1 - 3q22.1 [CytoView hg19]  TMCC1 - 3q22.1 [CytoView hg38]
ImmunoBaseENSG00000172765
Mapping of homologs : NCBITMCC1 [Mapview hg19]  TMCC1 [Mapview hg38]
OMIM616242   
Gene and transcription
Genbank (Entrez)AA285018 AB018322 AI609644 AK124671 AK291448
RefSeq transcript (Entrez)NM_001017395 NM_001128224 NM_001349263 NM_001349264 NM_001349265 NM_001349266 NM_001349268 NM_001349269 NM_001349270 NM_001349271 NM_001349272 NM_001349273 NM_001349274 NM_001349275 NM_001349276 NM_015008
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMCC1
Cluster EST : UnigeneHs.477547 [ NCBI ]
CGAP (NCI)Hs.477547
Alternative Splicing GalleryENSG00000172765
Gene ExpressionTMCC1 [ NCBI-GEO ]   TMCC1 [ EBI - ARRAY_EXPRESS ]   TMCC1 [ SEEK ]   TMCC1 [ MEM ]
Gene Expression Viewer (FireBrowse)TMCC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23023
GTEX Portal (Tissue expression)TMCC1
Human Protein AtlasENSG00000172765-TMCC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94876   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94876  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94876
Splice isoforms : SwissVarO94876
PhosPhoSitePlusO94876
Domains : Interpro (EBI)TEX28/TMCC   
Domain families : Pfam (Sanger)Tmemb_cc2 (PF10267)   
Domain families : Pfam (NCBI)pfam10267   
Conserved Domain (NCBI)TMCC1
DMDM Disease mutations23023
Blocks (Seattle)TMCC1
SuperfamilyO94876
Human Protein Atlas [tissue]ENSG00000172765-TMCC1 [tissue]
Peptide AtlasO94876
HPRD15518
IPIIPI00333063   IPI01009906   IPI00794153   IPI00413793   IPI00966162   IPI00793064   
Protein Interaction databases
DIP (DOE-UCLA)O94876
IntAct (EBI)O94876
FunCoupENSG00000172765
BioGRIDTMCC1
STRING (EMBL)TMCC1
ZODIACTMCC1
Ontologies - Pathways
QuickGOO94876
Ontology : AmiGOprotein binding  endoplasmic reticulum membrane  rough endoplasmic reticulum  cytosol  endoplasmic reticulum organization  integral component of membrane  endosomal transport  protein homodimerization activity  protein heterodimerization activity  protein homooligomerization  protein heterooligomerization  membrane fission  endosome membrane tubulation  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum membrane  rough endoplasmic reticulum  cytosol  endoplasmic reticulum organization  integral component of membrane  endosomal transport  protein homodimerization activity  protein heterodimerization activity  protein homooligomerization  protein heterooligomerization  membrane fission  endosome membrane tubulation  
NDEx NetworkTMCC1
Atlas of Cancer Signalling NetworkTMCC1
Wikipedia pathwaysTMCC1
Orthology - Evolution
OrthoDB23023
GeneTree (enSembl)ENSG00000172765
Phylogenetic Trees/Animal Genes : TreeFamTMCC1
HOGENOMO94876
Homologs : HomoloGeneTMCC1
Homology/Alignments : Family Browser (UCSC)TMCC1
Gene fusions - Rearrangements
Fusion : MitelmanCTDSPL/TMCC1 [3p22.2/3q22.1]  [t(3;3)(p22;q22)]  
Fusion : MitelmanPLXND1/TMCC1 [3q22.1/3q22.1]  [del(3)(q22q22)]  
Fusion : MitelmanRUVBL1/TMCC1 [3q21.3/3q22.1]  [t(3;3)(q21;q22)]  
Fusion : MitelmanTMCC1/ALDH1L1 [3q22.1/3q21.3]  [t(3;3)(q21;q22)]  
Fusion : MitelmanTMCC1/ARSG [3q22.1/17q24.2]  [t(3;17)(q22;q24)]  
Fusion : MitelmanTMCC1/C3orf36 [3q22.1/3q22.1]  [t(3;3)(q22;q22)]  
Fusion : MitelmanTMCC1/LSAMP [3q22.1/3q13.31]  [t(3;3)(q13;q22)]  
Fusion PortalCTDSPL 3p22.2 TMCC1 3q22.1 BRCA
Fusion PortalTMCC1 3q22.1 ALDH1L1 3q21.3 BRCA
Fusion PortalTMCC1 3q22.1 ARSG 17q24.2 BLCA
Fusion PortalTMCC1 3q22.1 LSAMP 3q13.31 LUSC
Fusion : QuiverTMCC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMCC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMCC1
dbVarTMCC1
ClinVarTMCC1
1000_GenomesTMCC1 
Exome Variant ServerTMCC1
ExAC (Exome Aggregation Consortium)ENSG00000172765
GNOMAD BrowserENSG00000172765
Varsome BrowserTMCC1
Genetic variants : HAPMAP23023
Genomic Variants (DGV)TMCC1 [DGVbeta]
DECIPHERTMCC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMCC1 
Mutations
ICGC Data PortalTMCC1 
TCGA Data PortalTMCC1 
Broad Tumor PortalTMCC1
OASIS PortalTMCC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMCC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMCC1
Mutations and Diseases : HGMDTMCC1
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 TMCC1
DgiDB (Drug Gene Interaction Database)TMCC1
DoCM (Curated mutations)TMCC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMCC1 (select a term)
intoGenTMCC1
Cancer3DTMCC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616242   
Orphanet
DisGeNETTMCC1
MedgenTMCC1
Genetic Testing Registry TMCC1
NextProtO94876 [Medical]
TSGene23023
GENETestsTMCC1
Target ValidationTMCC1
Huge Navigator TMCC1 [HugePedia]
snp3D : Map Gene to Disease23023
BioCentury BCIQTMCC1
ClinGenTMCC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23023
Chemical/Pharm GKB GenePA134951990
Clinical trialTMCC1
Miscellaneous
canSAR (ICR)TMCC1 (select the gene name)
DataMed IndexTMCC1
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMCC1
EVEXTMCC1
GoPubMedTMCC1
iHOPTMCC1
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 : Wed Nov 13 18:11:59 CET 2019
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