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TMEM147 (transmembrane protein 147)

Identity

Alias_symbol (synonym)NIFIE14
MGC1936
Other alias
HGNC (Hugo) TMEM147
LocusID (NCBI) 10430
Atlas_Id 74807
Location 19q13.12  [Link to chromosome band 19q13]
Location_base_pair Starts at 35545600 and ends at 35547527 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)
CSTB (21q22.3) / TMEM147 (19q13.12)TMEM147 (19q13.12) / AKAP11 (13q14.11)

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)TMEM147   30414
Cards
Entrez_Gene (NCBI)TMEM147  10430  transmembrane protein 147
AliasesNIFIE14
GeneCards (Weizmann)TMEM147
Ensembl hg19 (Hinxton)ENSG00000105677 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105677 [Gene_View]  chr19:35545600-35547527 [Contig_View]  TMEM147 [Vega]
ICGC DataPortalENSG00000105677
TCGA cBioPortalTMEM147
AceView (NCBI)TMEM147
Genatlas (Paris)TMEM147
WikiGenes10430
SOURCE (Princeton)TMEM147
Genetics Home Reference (NIH)TMEM147
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM147  -     chr19:35545600-35547527 +  19q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM147  -     19q13.12   [Description]    (hg19-Feb_2009)
EnsemblTMEM147 - 19q13.12 [CytoView hg19]  TMEM147 - 19q13.12 [CytoView hg38]
Mapping of homologs : NCBITMEM147 [Mapview hg19]  TMEM147 [Mapview hg38]
OMIM613585   
Gene and transcription
Genbank (Entrez)AW130399 AW473288 BC001118 BG697070 BM423809
RefSeq transcript (Entrez)NM_001242597 NM_001242598 NM_032635
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM147
Cluster EST : UnigeneHs.9234 [ NCBI ]
CGAP (NCI)Hs.9234
Alternative Splicing GalleryENSG00000105677
Gene ExpressionTMEM147 [ NCBI-GEO ]   TMEM147 [ EBI - ARRAY_EXPRESS ]   TMEM147 [ SEEK ]   TMEM147 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM147 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10430
GTEX Portal (Tissue expression)TMEM147
Human Protein AtlasENSG00000105677-TMEM147 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BVK8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BVK8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BVK8
Splice isoforms : SwissVarQ9BVK8
PhosPhoSitePlusQ9BVK8
Domains : Interpro (EBI)DUF2053_membrane   
Domain families : Pfam (Sanger)DUF2053 (PF09767)   
Domain families : Pfam (NCBI)pfam09767   
Conserved Domain (NCBI)TMEM147
DMDM Disease mutations10430
Blocks (Seattle)TMEM147
SuperfamilyQ9BVK8
Human Protein Atlas [tissue]ENSG00000105677-TMEM147 [tissue]
Peptide AtlasQ9BVK8
HPRD17633
IPIIPI00013293   IPI00026927   IPI00792002   IPI00978297   
Protein Interaction databases
DIP (DOE-UCLA)Q9BVK8
IntAct (EBI)Q9BVK8
FunCoupENSG00000105677
BioGRIDTMEM147
STRING (EMBL)TMEM147
ZODIACTMEM147
Ontologies - Pathways
QuickGOQ9BVK8
Ontology : AmiGOprotein binding  endoplasmic reticulum membrane  integral component of membrane  protein destabilization  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum membrane  integral component of membrane  protein destabilization  
NDEx NetworkTMEM147
Atlas of Cancer Signalling NetworkTMEM147
Wikipedia pathwaysTMEM147
Orthology - Evolution
OrthoDB10430
GeneTree (enSembl)ENSG00000105677
Phylogenetic Trees/Animal Genes : TreeFamTMEM147
HOVERGENQ9BVK8
HOGENOMQ9BVK8
Homologs : HomoloGeneTMEM147
Homology/Alignments : Family Browser (UCSC)TMEM147
Gene fusions - Rearrangements
Tumor Fusion PortalTMEM147
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM147 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM147
dbVarTMEM147
ClinVarTMEM147
1000_GenomesTMEM147 
Exome Variant ServerTMEM147
ExAC (Exome Aggregation Consortium)ENSG00000105677
GNOMAD BrowserENSG00000105677
Genetic variants : HAPMAP10430
Genomic Variants (DGV)TMEM147 [DGVbeta]
DECIPHERTMEM147 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM147 
Mutations
ICGC Data PortalTMEM147 
TCGA Data PortalTMEM147 
Broad Tumor PortalTMEM147
OASIS PortalTMEM147 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM147  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMEM147
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TMEM147
DgiDB (Drug Gene Interaction Database)TMEM147
DoCM (Curated mutations)TMEM147 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM147 (select a term)
intoGenTMEM147
Cancer3DTMEM147(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613585   
Orphanet
DisGeNETTMEM147
MedgenTMEM147
Genetic Testing Registry TMEM147
NextProtQ9BVK8 [Medical]
TSGene10430
GENETestsTMEM147
Target ValidationTMEM147
Huge Navigator TMEM147 [HugePedia]
snp3D : Map Gene to Disease10430
BioCentury BCIQTMEM147
ClinGenTMEM147
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10430
Chemical/Pharm GKB GenePA144596255
Clinical trialTMEM147
Miscellaneous
canSAR (ICR)TMEM147 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM147
EVEXTMEM147
GoPubMedTMEM147
iHOPTMEM147
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 20:18:27 CET 2017

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