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TMEM117 (transmembrane protein 117)

Identity

Alias_symbol (synonym)DKFZp434K2435
Other alias-
HGNC (Hugo) TMEM117
LocusID (NCBI) 84216
Atlas_Id 74783
Location 12q12  [Link to chromosome band 12q12]
Location_base_pair Starts at 44229664 and ends at 44783545 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ARID2 (12q12) / TMEM117 (12q12)NUP98 (11p15.4) / TMEM117 (12q12)SLC12A7 (5p15.33) / TMEM117 (12q12)
TMEM117 (12q12) / BLVRA (7p13)TMEM117 (12q12) / JADE1 (4q28.2)TMEM117 (12q12) / ZCRB1 (12q12)
NUP98 TMEM117SLC12A7 TMEM117

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)TMEM117   25308
Cards
Entrez_Gene (NCBI)TMEM117  84216  transmembrane protein 117
Aliases
GeneCards (Weizmann)TMEM117
Ensembl hg19 (Hinxton)ENSG00000139173 [Gene_View]  chr12:44229664-44783545 [Contig_View]  TMEM117 [Vega]
Ensembl hg38 (Hinxton)ENSG00000139173 [Gene_View]  chr12:44229664-44783545 [Contig_View]  TMEM117 [Vega]
ICGC DataPortalENSG00000139173
TCGA cBioPortalTMEM117
AceView (NCBI)TMEM117
Genatlas (Paris)TMEM117
WikiGenes84216
SOURCE (Princeton)TMEM117
Genetics Home Reference (NIH)TMEM117
Genomic and cartography
GoldenPath hg19 (UCSC)TMEM117  -     chr12:44229664-44783545 +  12q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TMEM117  -     12q12   [Description]    (hg38-Dec_2013)
EnsemblTMEM117 - 12q12 [CytoView hg19]  TMEM117 - 12q12 [CytoView hg38]
Mapping of homologs : NCBITMEM117 [Mapview hg19]  TMEM117 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AI050061 AK057287 AK097511 AL136855 AM393749
RefSeq transcript (Entrez)NM_001286211 NM_001286212 NM_001286213 NM_032256
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)TMEM117
Cluster EST : UnigeneHs.444668 [ NCBI ]
CGAP (NCI)Hs.444668
Alternative Splicing GalleryENSG00000139173
Gene ExpressionTMEM117 [ NCBI-GEO ]   TMEM117 [ EBI - ARRAY_EXPRESS ]   TMEM117 [ SEEK ]   TMEM117 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM117 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84216
GTEX Portal (Tissue expression)TMEM117
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H0C3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H0C3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H0C3
Splice isoforms : SwissVarQ9H0C3
PhosPhoSitePlusQ9H0C3
Domains : Interpro (EBI)TMEM117   
Domain families : Pfam (Sanger)TMEM117 (PF15113)   
Domain families : Pfam (NCBI)pfam15113   
Conserved Domain (NCBI)TMEM117
DMDM Disease mutations84216
Blocks (Seattle)TMEM117
SuperfamilyQ9H0C3
Human Protein AtlasENSG00000139173
Peptide AtlasQ9H0C3
HPRD13193
IPIIPI00031041   IPI00794304   IPI00792272   IPI01021104   IPI01022473   IPI01022257   
Protein Interaction databases
DIP (DOE-UCLA)Q9H0C3
IntAct (EBI)Q9H0C3
FunCoupENSG00000139173
BioGRIDTMEM117
STRING (EMBL)TMEM117
ZODIACTMEM117
Ontologies - Pathways
QuickGOQ9H0C3
Ontology : AmiGOmolecular_function  endoplasmic reticulum  biological_process  integral component of membrane  
Ontology : EGO-EBImolecular_function  endoplasmic reticulum  biological_process  integral component of membrane  
NDEx NetworkTMEM117
Atlas of Cancer Signalling NetworkTMEM117
Wikipedia pathwaysTMEM117
Orthology - Evolution
OrthoDB84216
GeneTree (enSembl)ENSG00000139173
Phylogenetic Trees/Animal Genes : TreeFamTMEM117
HOVERGENQ9H0C3
HOGENOMQ9H0C3
Homologs : HomoloGeneTMEM117
Homology/Alignments : Family Browser (UCSC)TMEM117
Gene fusions - Rearrangements
Fusion: TCGANUP98 TMEM117
Fusion: TCGASLC12A7 TMEM117
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM117 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM117
dbVarTMEM117
ClinVarTMEM117
1000_GenomesTMEM117 
Exome Variant ServerTMEM117
ExAC (Exome Aggregation Consortium)TMEM117 (select the gene name)
Genetic variants : HAPMAP84216
Genomic Variants (DGV)TMEM117 [DGVbeta]
DECIPHER (Syndromes)12:44229664-44783545  ENSG00000139173
CONAN: Copy Number AnalysisTMEM117 
Mutations
ICGC Data PortalTMEM117 
TCGA Data PortalTMEM117 
Broad Tumor PortalTMEM117
OASIS PortalTMEM117 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM117  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEM117
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 TMEM117
DgiDB (Drug Gene Interaction Database)TMEM117
DoCM (Curated mutations)TMEM117 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM117 (select a term)
intoGenTMEM117
Cancer3DTMEM117(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenTMEM117
Genetic Testing Registry TMEM117
NextProtQ9H0C3 [Medical]
TSGene84216
GENETestsTMEM117
Huge Navigator TMEM117 [HugePedia]
snp3D : Map Gene to Disease84216
BioCentury BCIQTMEM117
ClinGenTMEM117
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84216
Chemical/Pharm GKB GenePA143485638
Clinical trialTMEM117
Miscellaneous
canSAR (ICR)TMEM117 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM117
EVEXTMEM117
GoPubMedTMEM117
iHOPTMEM117
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 12:48:23 CET 2017

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