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TMEM57 (transmembrane protein 57)

Identity

Alias_symbol (synonym)FLJ10747
Other aliasMACOILIN
HGNC (Hugo) TMEM57
LocusID (NCBI) 55219
Atlas_Id 74960
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at 25757349 and ends at 25826698 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PAX7 (1p36.13) / TMEM57 (1p36.11)TIAM2 (6q25.3) / TMEM57 (1p36.11)TMEM57 (1p36.11) / CUL1 (7q36.1)
TMEM57 (1p36.11) / FAM122B (Xq26.3)TMEM57 (1p36.11) / KAT6B (10q22.2)

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)TMEM57   25572
Cards
Entrez_Gene (NCBI)TMEM57  55219  transmembrane protein 57
AliasesMACOILIN
GeneCards (Weizmann)TMEM57
Ensembl hg19 (Hinxton)ENSG00000204178 [Gene_View]  chr1:25757349-25826698 [Contig_View]  TMEM57 [Vega]
Ensembl hg38 (Hinxton)ENSG00000204178 [Gene_View]  chr1:25757349-25826698 [Contig_View]  TMEM57 [Vega]
ICGC DataPortalENSG00000204178
TCGA cBioPortalTMEM57
AceView (NCBI)TMEM57
Genatlas (Paris)TMEM57
WikiGenes55219
SOURCE (Princeton)TMEM57
Genetics Home Reference (NIH)TMEM57
Genomic and cartography
GoldenPath hg19 (UCSC)TMEM57  -     chr1:25757349-25826698 +  1p36.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TMEM57  -     1p36.11   [Description]    (hg38-Dec_2013)
EnsemblTMEM57 - 1p36.11 [CytoView hg19]  TMEM57 - 1p36.11 [CytoView hg38]
Mapping of homologs : NCBITMEM57 [Mapview hg19]  TMEM57 [Mapview hg38]
OMIM610301   
Gene and transcription
Genbank (Entrez)AA827805 AK001609 AK311472 AY845015 AY845035
RefSeq transcript (Entrez)NM_001282564 NM_018202
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)TMEM57
Cluster EST : UnigeneHs.189782 [ NCBI ]
CGAP (NCI)Hs.189782
Alternative Splicing GalleryENSG00000204178
Gene ExpressionTMEM57 [ NCBI-GEO ]   TMEM57 [ EBI - ARRAY_EXPRESS ]   TMEM57 [ SEEK ]   TMEM57 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM57 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55219
GTEX Portal (Tissue expression)TMEM57
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N5G2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N5G2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N5G2
Splice isoforms : SwissVarQ8N5G2
PhosPhoSitePlusQ8N5G2
Domains : Interpro (EBI)Macoilin   
Domain families : Pfam (Sanger)Macoilin (PF09726)   
Domain families : Pfam (NCBI)pfam09726   
Conserved Domain (NCBI)TMEM57
DMDM Disease mutations55219
Blocks (Seattle)TMEM57
SuperfamilyQ8N5G2
Human Protein AtlasENSG00000204178
Peptide AtlasQ8N5G2
HPRD13340
IPIIPI00296938   IPI00719801   IPI00373988   
Protein Interaction databases
DIP (DOE-UCLA)Q8N5G2
IntAct (EBI)Q8N5G2
FunCoupENSG00000204178
BioGRIDTMEM57
STRING (EMBL)TMEM57
ZODIACTMEM57
Ontologies - Pathways
QuickGOQ8N5G2
Ontology : AmiGOmolecular_function  nucleus  brain development  biological_process  integral component of membrane  axon  nuclear membrane  neuron projection terminus  synapse  
Ontology : EGO-EBImolecular_function  nucleus  brain development  biological_process  integral component of membrane  axon  nuclear membrane  neuron projection terminus  synapse  
NDEx NetworkTMEM57
Atlas of Cancer Signalling NetworkTMEM57
Wikipedia pathwaysTMEM57
Orthology - Evolution
OrthoDB55219
GeneTree (enSembl)ENSG00000204178
Phylogenetic Trees/Animal Genes : TreeFamTMEM57
HOVERGENQ8N5G2
HOGENOMQ8N5G2
Homologs : HomoloGeneTMEM57
Homology/Alignments : Family Browser (UCSC)TMEM57
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM57 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM57
dbVarTMEM57
ClinVarTMEM57
1000_GenomesTMEM57 
Exome Variant ServerTMEM57
ExAC (Exome Aggregation Consortium)TMEM57 (select the gene name)
Genetic variants : HAPMAP55219
Genomic Variants (DGV)TMEM57 [DGVbeta]
DECIPHER (Syndromes)1:25757349-25826698  ENSG00000204178
CONAN: Copy Number AnalysisTMEM57 
Mutations
ICGC Data PortalTMEM57 
TCGA Data PortalTMEM57 
Broad Tumor PortalTMEM57
OASIS PortalTMEM57 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM57  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEM57
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 TMEM57
DgiDB (Drug Gene Interaction Database)TMEM57
DoCM (Curated mutations)TMEM57 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM57 (select a term)
intoGenTMEM57
Cancer3DTMEM57(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610301   
Orphanet
MedgenTMEM57
Genetic Testing Registry TMEM57
NextProtQ8N5G2 [Medical]
TSGene55219
GENETestsTMEM57
Huge Navigator TMEM57 [HugePedia]
snp3D : Map Gene to Disease55219
BioCentury BCIQTMEM57
ClinGenTMEM57
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55219
Chemical/Pharm GKB GenePA142670773
Clinical trialTMEM57
Miscellaneous
canSAR (ICR)TMEM57 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM57
EVEXTMEM57
GoPubMedTMEM57
iHOPTMEM57
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:49:01 CET 2017

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