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TMEM127 (transmembrane protein 127)

Identity

Other names-
HGNC (Hugo) TMEM127
LocusID (NCBI) 55654
Atlas_Id 51455
Location 2q11.2  [Link to chromosome band 2q11]
Location_base_pair Starts at 96915946 and ends at 96931751 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)		FRY (13q13.1) / TMEM127 (2q11.2)GLG1 (16q23.1) / TMEM127 (2q11.2)TMEM127 (2q11.2) / STAM (10p12.33)
TMEM127 (2q11.2) / UPK1B (3q13.32)TMEM127 2q11.2 / STAM 10p12.33

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) [ 0 ]
  Head and Neck: Paraganglioma: an overview

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Hereditary paraganglioma (PGL)

External links

Nomenclature
HGNC (Hugo)TMEM127   26038
Cards
Entrez_Gene (NCBI)TMEM127  55654  transmembrane protein 127
Aliases
GeneCards (Weizmann)TMEM127
Ensembl hg19 (Hinxton)ENSG00000135956 [Gene_View]  chr2:96915946-96931751 [Contig_View]  TMEM127 [Vega]
Ensembl hg38 (Hinxton)ENSG00000135956 [Gene_View]  chr2:96915946-96931751 [Contig_View]  TMEM127 [Vega]
ICGC DataPortalENSG00000135956
TCGA cBioPortalTMEM127
AceView (NCBI)TMEM127
Genatlas (Paris)TMEM127
WikiGenes55654
SOURCE (Princeton)TMEM127
Genomic and cartography
GoldenPath hg19 (UCSC)TMEM127  -     chr2:96915946-96931751 -  2q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TMEM127  -     2q11.2   [Description]    (hg38-Dec_2013)
EnsemblTMEM127 - 2q11.2 [CytoView hg19]  TMEM127 - 2q11.2 [CytoView hg38]
Mapping of homologs : NCBITMEM127 [Mapview hg19]  TMEM127 [Mapview hg38]
OMIM171300   613403   
Gene and transcription
Genbank (Entrez)AK000514 AK025910 AK293276 AL117494 AL117581
RefSeq transcript (Entrez)NM_001193304 NM_017849 NM_032218
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_027695 NT_005403 NW_004929303
Consensus coding sequences : CCDS (NCBI)TMEM127
Cluster EST : UnigeneHs.735706 [ NCBI ]
CGAP (NCI)Hs.735706
Alternative Splicing GalleryENSG00000135956
Gene ExpressionTMEM127 [ NCBI-GEO ]   TMEM127 [ EBI - ARRAY_EXPRESS ]   TMEM127 [ SEEK ]   TMEM127 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM127 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55654
GTEX Portal (Tissue expression)TMEM127
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75204 (Uniprot)
NextProtO75204  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75204
Splice isoforms : SwissVarO75204 (Swissvar)
PhosPhoSitePlusO75204
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations55654
Blocks (Seattle)TMEM127
SuperfamilyO75204
Human Protein AtlasENSG00000135956
Peptide AtlasO75204
HPRD07917
IPIIPI00016455   IPI00386215   IPI00927741   
Protein Interaction databases
DIP (DOE-UCLA)O75204
IntAct (EBI)O75204
FunCoupENSG00000135956
BioGRIDTMEM127
STRING (EMBL)TMEM127
ZODIACTMEM127
Ontologies - Pathways
QuickGOO75204
Ontology : AmiGOmolecular_function  cytoplasm  early endosome  plasma membrane  endosome organization  negative regulation of cell proliferation  integral component of membrane  Rab GTPase binding  negative regulation of TOR signaling  
Ontology : EGO-EBImolecular_function  cytoplasm  early endosome  plasma membrane  endosome organization  negative regulation of cell proliferation  integral component of membrane  Rab GTPase binding  negative regulation of TOR signaling  
NDEx NetworkTMEM127
Atlas of Cancer Signalling NetworkTMEM127
Wikipedia pathwaysTMEM127
Orthology - Evolution
OrthoDB55654
GeneTree (enSembl)ENSG00000135956
Phylogenetic Trees/Animal Genes : TreeFamTMEM127
Homologs : HomoloGeneTMEM127
Homology/Alignments : Family Browser (UCSC)TMEM127
Gene fusions - Rearrangements
Fusion: TCGATMEM127 2q11.2 STAM 10p12.33 BLCA
Polymorphisms : SNP, variants
NCBI Variation ViewerTMEM127 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM127
dbVarTMEM127
ClinVarTMEM127
1000_GenomesTMEM127 
Exome Variant ServerTMEM127
ExAC (Exome Aggregation Consortium)TMEM127 (select the gene name)
Genetic variants : HAPMAP55654
Genomic Variants (DGV)TMEM127 [DGVbeta]
Mutations
ICGC Data PortalTMEM127 
TCGA Data PortalTMEM127 
Broad Tumor PortalTMEM127
OASIS PortalTMEM127 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM127 
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 TMEM127
DgiDB (Drug Gene Interaction Database)TMEM127
DoCM (Curated mutations)TMEM127 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM127 (select a term)
intoGenTMEM127
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:96915946-96931751  ENSG00000135956
CONAN: Copy Number AnalysisTMEM127 
Mutations and Diseases : HGMDTMEM127
OMIM171300    613403   
MedgenTMEM127
Genetic Testing Registry TMEM127
NextProtO75204 [Medical]
TSGene55654
GENETestsTMEM127
Huge Navigator TMEM127 [HugePedia]
snp3D : Map Gene to Disease55654
BioCentury BCIQTMEM127
ClinGenTMEM127
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55654
Chemical/Pharm GKB GenePA143485647
Clinical trialTMEM127
Miscellaneous
canSAR (ICR)TMEM127 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM127
EVEXTMEM127
GoPubMedTMEM127
iHOPTMEM127
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Oct 1 16:19:41 CEST 2016
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