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TMEM247 (transmembrane protein 247)

Identity

Alias (NCBI)-
HGNC (Hugo) TMEM247
LocusID (NCBI) 388946
Atlas_Id 74911
Location 2p21  [Link to chromosome band 2p21]
Location_base_pair Starts at 46479565 and ends at 46484425 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)

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)TMEM247   42967
Cards
Entrez_Gene (NCBI)TMEM247    transmembrane protein 247
Aliases
GeneCards (Weizmann)TMEM247
Ensembl hg19 (Hinxton)ENSG00000284701 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000284701 [Gene_View]  ENSG00000284701 [Sequence]  chr2:46479565-46484425 [Contig_View]  TMEM247 [Vega]
ICGC DataPortalENSG00000284701
TCGA cBioPortalTMEM247
AceView (NCBI)TMEM247
Genatlas (Paris)TMEM247
SOURCE (Princeton)TMEM247
Genetics Home Reference (NIH)TMEM247
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM247  -     chr2:46479565-46484425 +  2p21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM247  -     2p21   [Description]    (hg19-Feb_2009)
GoldenPathTMEM247 - 2p21 [CytoView hg19]  TMEM247 - 2p21 [CytoView hg38]
ImmunoBaseENSG00000284701
Genome Data Viewer NCBITMEM247 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AA431175 AA432195
RefSeq transcript (Entrez)NM_001145051
Consensus coding sequences : CCDS (NCBI)TMEM247
Gene ExpressionTMEM247 [ NCBI-GEO ]   TMEM247 [ EBI - ARRAY_EXPRESS ]   TMEM247 [ SEEK ]   TMEM247 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM247 [ Firebrowse - Broad ]
GenevisibleExpression of TMEM247 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)388946
GTEX Portal (Tissue expression)TMEM247
Human Protein AtlasENSG00000284701-TMEM247 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA6NEH6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA6NEH6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA6NEH6
PhosPhoSitePlusA6NEH6
Domains : Interpro (EBI)TMEM247   
Domain families : Pfam (Sanger)TMEM247 (PF15444)   
Domain families : Pfam (NCBI)pfam15444   
Conserved Domain (NCBI)TMEM247
SuperfamilyA6NEH6
AlphaFold pdb e-kbA6NEH6   
Human Protein Atlas [tissue]ENSG00000284701-TMEM247 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)A6NEH6
IntAct (EBI)A6NEH6
BioGRIDTMEM247
STRING (EMBL)TMEM247
ZODIACTMEM247
Ontologies - Pathways
QuickGOA6NEH6
Ontology : AmiGOendoplasmic reticulum  integral component of membrane  
Ontology : EGO-EBIendoplasmic reticulum  integral component of membrane  
NDEx NetworkTMEM247
Atlas of Cancer Signalling NetworkTMEM247
Wikipedia pathwaysTMEM247
Orthology - Evolution
OrthoDB388946
GeneTree (enSembl)ENSG00000284701
Phylogenetic Trees/Animal Genes : TreeFamTMEM247
Homologs : HomoloGeneTMEM247
Homology/Alignments : Family Browser (UCSC)TMEM247
Gene fusions - Rearrangements
Fusion : QuiverTMEM247
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM247 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM247
dbVarTMEM247
ClinVarTMEM247
MonarchTMEM247
1000_GenomesTMEM247 
Exome Variant ServerTMEM247
GNOMAD BrowserENSG00000284701
Varsome BrowserTMEM247
ACMGTMEM247 variants
VarityA6NEH6
Genomic Variants (DGV)TMEM247 [DGVbeta]
DECIPHERTMEM247 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM247 
Mutations
ICGC Data PortalTMEM247 
TCGA Data PortalTMEM247 
Broad Tumor PortalTMEM247
OASIS PortalTMEM247 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMEM247  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTMEM247
Mutations and Diseases : HGMDTMEM247
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTMEM247
DgiDB (Drug Gene Interaction Database)TMEM247
DoCM (Curated mutations)TMEM247
CIViC (Clinical Interpretations of Variants in Cancer)TMEM247
Cancer3DTMEM247
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETTMEM247
MedgenTMEM247
Genetic Testing Registry TMEM247
NextProtA6NEH6 [Medical]
GENETestsTMEM247
Target ValidationTMEM247
Huge Navigator TMEM247 [HugePedia]
ClinGenTMEM247
Clinical trials, drugs, therapy
MyCancerGenomeTMEM247
Protein Interactions : CTDTMEM247
Pharm GKB GenePA166049093
PharosA6NEH6
Clinical trialTMEM247
Miscellaneous
canSAR (ICR)TMEM247
HarmonizomeTMEM247
DataMed IndexTMEM247
Probes
Litterature
PubMed2 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTMEM247
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 16:26:07 CEST 2021

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