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TMEFF1 (transmembrane protein with EGF like and two follistatin like domains 1)

Identity

Alias_namesC9orf2
transmembrane protein with EGF-like and two follistatin-like domains 1
Alias_symbol (synonym)H7365
CT120.1
Other aliasTR-1
HGNC (Hugo) TMEFF1
LocusID (NCBI) 8577
Atlas_Id 43630
Location 9q31.1  [Link to chromosome band 9q31]
Location_base_pair Starts at 100473238 and ends at 100577636 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)
NIPSNAP3A (9q31.1) / TMEFF1 (9q31.1)TMEFF1 (9q31.1) / MURC (9q31.1)NIPSNAP3A 9q31.1 / TMEFF1 9q31.1

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)TMEFF1   11866
Cards
Entrez_Gene (NCBI)TMEFF1  8577  transmembrane protein with EGF like and two follistatin like domains 1
AliasesC9orf2; CT120.1; H7365; TR-1
GeneCards (Weizmann)TMEFF1
Ensembl hg19 (Hinxton)ENSG00000241697 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000241697 [Gene_View]  chr9:100473238-100577636 [Contig_View]  TMEFF1 [Vega]
ICGC DataPortalENSG00000241697
TCGA cBioPortalTMEFF1
AceView (NCBI)TMEFF1
Genatlas (Paris)TMEFF1
WikiGenes8577
SOURCE (Princeton)TMEFF1
Genetics Home Reference (NIH)TMEFF1
Genomic and cartography
GoldenPath hg38 (UCSC)TMEFF1  -     chr9:100473238-100577636 +  9q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEFF1  -     9q31.1   [Description]    (hg19-Feb_2009)
EnsemblTMEFF1 - 9q31.1 [CytoView hg19]  TMEFF1 - 9q31.1 [CytoView hg38]
Mapping of homologs : NCBITMEFF1 [Mapview hg19]  TMEFF1 [Mapview hg38]
OMIM603421   
Gene and transcription
Genbank (Entrez)BC021991 BC035056 BF436262 DN602026 DQ891732
RefSeq transcript (Entrez)NM_003692
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEFF1
Cluster EST : UnigeneHs.598100 [ NCBI ]
CGAP (NCI)Hs.598100
Alternative Splicing GalleryENSG00000241697
Gene ExpressionTMEFF1 [ NCBI-GEO ]   TMEFF1 [ EBI - ARRAY_EXPRESS ]   TMEFF1 [ SEEK ]   TMEFF1 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEFF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8577
GTEX Portal (Tissue expression)TMEFF1
Human Protein AtlasENSG00000241697-TMEFF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IYR6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IYR6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IYR6
Splice isoforms : SwissVarQ8IYR6
PhosPhoSitePlusQ8IYR6
Domaine pattern : Prosite (Expaxy)EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    KAZAL_2 (PS51465)   
Domains : Interpro (EBI)EGF-like_CS    EGF-like_dom    Kazal_dom   
Domain families : Pfam (Sanger)Kazal_2 (PF07648)   
Domain families : Pfam (NCBI)pfam07648   
Domain families : Smart (EMBL)KAZAL (SM00280)  
Conserved Domain (NCBI)TMEFF1
DMDM Disease mutations8577
Blocks (Seattle)TMEFF1
SuperfamilyQ8IYR6
Human Protein Atlas [tissue]ENSG00000241697-TMEFF1 [tissue]
Peptide AtlasQ8IYR6
HPRD04570
IPIIPI00293588   IPI00843884   
Protein Interaction databases
DIP (DOE-UCLA)Q8IYR6
IntAct (EBI)Q8IYR6
FunCoupENSG00000241697
BioGRIDTMEFF1
STRING (EMBL)TMEFF1
ZODIACTMEFF1
Ontologies - Pathways
QuickGOQ8IYR6
Ontology : AmiGOplasma membrane  multicellular organism development  integral component of membrane  
Ontology : EGO-EBIplasma membrane  multicellular organism development  integral component of membrane  
NDEx NetworkTMEFF1
Atlas of Cancer Signalling NetworkTMEFF1
Wikipedia pathwaysTMEFF1
Orthology - Evolution
OrthoDB8577
GeneTree (enSembl)ENSG00000241697
Phylogenetic Trees/Animal Genes : TreeFamTMEFF1
HOVERGENQ8IYR6
HOGENOMQ8IYR6
Homologs : HomoloGeneTMEFF1
Homology/Alignments : Family Browser (UCSC)TMEFF1
Gene fusions - Rearrangements
Fusion : MitelmanNIPSNAP3A/TMEFF1 [9q31.1/9q31.1]  [t(9;9)(q31;q31)]  
Fusion: TCGA_MDACCNIPSNAP3A 9q31.1 TMEFF1 9q31.1 BRCA
Tumor Fusion PortalTMEFF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEFF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEFF1
dbVarTMEFF1
ClinVarTMEFF1
1000_GenomesTMEFF1 
Exome Variant ServerTMEFF1
ExAC (Exome Aggregation Consortium)ENSG00000241697
GNOMAD BrowserENSG00000241697
Genetic variants : HAPMAP8577
Genomic Variants (DGV)TMEFF1 [DGVbeta]
DECIPHERTMEFF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEFF1 
Mutations
ICGC Data PortalTMEFF1 
TCGA Data PortalTMEFF1 
Broad Tumor PortalTMEFF1
OASIS PortalTMEFF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEFF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEFF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TMEFF1
DgiDB (Drug Gene Interaction Database)TMEFF1
DoCM (Curated mutations)TMEFF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEFF1 (select a term)
intoGenTMEFF1
Cancer3DTMEFF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603421   
Orphanet
DisGeNETTMEFF1
MedgenTMEFF1
Genetic Testing Registry TMEFF1
NextProtQ8IYR6 [Medical]
TSGene8577
GENETestsTMEFF1
Target ValidationTMEFF1
Huge Navigator TMEFF1 [HugePedia]
snp3D : Map Gene to Disease8577
BioCentury BCIQTMEFF1
ClinGenTMEFF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8577
Chemical/Pharm GKB GenePA36567
Clinical trialTMEFF1
Miscellaneous
canSAR (ICR)TMEFF1 (select the gene name)
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEFF1
EVEXTMEFF1
GoPubMedTMEFF1
iHOPTMEFF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:38:41 CET 2017

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