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TMEM54 (transmembrane protein 54)

Identity

Alias_symbol (synonym)CAC-1
Other aliasBCLP
CAC1
HGNC (Hugo) TMEM54
LocusID (NCBI) 113452
Atlas_Id 74956
Location 1p35.1  [Link to chromosome band 1p35]
Location_base_pair Starts at 32894593 and ends at 32901440 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GRN (17q21.31) / TMEM54 (1p35.1)

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)TMEM54   24143
Cards
Entrez_Gene (NCBI)TMEM54  113452  transmembrane protein 54
AliasesBCLP; CAC-1; CAC1
GeneCards (Weizmann)TMEM54
Ensembl hg19 (Hinxton)ENSG00000121900 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121900 [Gene_View]  chr1:32894593-32901440 [Contig_View]  TMEM54 [Vega]
ICGC DataPortalENSG00000121900
TCGA cBioPortalTMEM54
AceView (NCBI)TMEM54
Genatlas (Paris)TMEM54
WikiGenes113452
SOURCE (Princeton)TMEM54
Genetics Home Reference (NIH)TMEM54
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM54  -     chr1:32894593-32901440 -  1p35.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM54  -     1p35.1   [Description]    (hg19-Feb_2009)
EnsemblTMEM54 - 1p35.1 [CytoView hg19]  TMEM54 - 1p35.1 [CytoView hg38]
Mapping of homologs : NCBITMEM54 [Mapview hg19]  TMEM54 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB012692 AY027543 AY359883 BC001418 BC013953
RefSeq transcript (Entrez)NM_001329722 NM_001329723 NM_001329724 NM_001329725 NM_033504
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM54
Cluster EST : UnigeneHs.534521 [ NCBI ]
CGAP (NCI)Hs.534521
Alternative Splicing GalleryENSG00000121900
Gene ExpressionTMEM54 [ NCBI-GEO ]   TMEM54 [ EBI - ARRAY_EXPRESS ]   TMEM54 [ SEEK ]   TMEM54 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM54 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)113452
GTEX Portal (Tissue expression)TMEM54
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969K7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969K7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969K7
Splice isoforms : SwissVarQ969K7
PhosPhoSitePlusQ969K7
Domains : Interpro (EBI)Beta-casein-like   
Domain families : Pfam (Sanger)BCLP (PF12304)   
Domain families : Pfam (NCBI)pfam12304   
Conserved Domain (NCBI)TMEM54
DMDM Disease mutations113452
Blocks (Seattle)TMEM54
SuperfamilyQ969K7
Human Protein AtlasENSG00000121900
Peptide AtlasQ969K7
HPRD12524
IPIIPI00056405   IPI00431662   IPI00216981   
Protein Interaction databases
DIP (DOE-UCLA)Q969K7
IntAct (EBI)Q969K7
FunCoupENSG00000121900
BioGRIDTMEM54
STRING (EMBL)TMEM54
ZODIACTMEM54
Ontologies - Pathways
QuickGOQ969K7
Ontology : AmiGOmolecular_function  cellular_component  biological_process  integral component of membrane  
Ontology : EGO-EBImolecular_function  cellular_component  biological_process  integral component of membrane  
NDEx NetworkTMEM54
Atlas of Cancer Signalling NetworkTMEM54
Wikipedia pathwaysTMEM54
Orthology - Evolution
OrthoDB113452
GeneTree (enSembl)ENSG00000121900
Phylogenetic Trees/Animal Genes : TreeFamTMEM54
HOVERGENQ969K7
HOGENOMQ969K7
Homologs : HomoloGeneTMEM54
Homology/Alignments : Family Browser (UCSC)TMEM54
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM54 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM54
dbVarTMEM54
ClinVarTMEM54
1000_GenomesTMEM54 
Exome Variant ServerTMEM54
ExAC (Exome Aggregation Consortium)TMEM54 (select the gene name)
Genetic variants : HAPMAP113452
Genomic Variants (DGV)TMEM54 [DGVbeta]
DECIPHERTMEM54 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM54 
Mutations
ICGC Data PortalTMEM54 
TCGA Data PortalTMEM54 
Broad Tumor PortalTMEM54
OASIS PortalTMEM54 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM54  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEM54
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 TMEM54
DgiDB (Drug Gene Interaction Database)TMEM54
DoCM (Curated mutations)TMEM54 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM54 (select a term)
intoGenTMEM54
Cancer3DTMEM54(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenTMEM54
Genetic Testing Registry TMEM54
NextProtQ969K7 [Medical]
TSGene113452
GENETestsTMEM54
Target ValidationTMEM54
Huge Navigator TMEM54 [HugePedia]
snp3D : Map Gene to Disease113452
BioCentury BCIQTMEM54
ClinGenTMEM54
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD113452
Chemical/Pharm GKB GenePA142670770
Clinical trialTMEM54
Miscellaneous
canSAR (ICR)TMEM54 (select the gene name)
Probes
Litterature
PubMed10 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM54
EVEXTMEM54
GoPubMedTMEM54
iHOPTMEM54
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 13:42:02 CEST 2017

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