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TMEM248 (transmembrane protein 248)

Identity

Alias_namesC7orf42
chromosome 7 open reading frame 42
Alias_symbol (synonym)FLJ10099
FLJ13090
Other alias
HGNC (Hugo) TMEM248
LocusID (NCBI) 55069
Atlas_Id 74912
Location 7q11.21  [Link to chromosome band 7q11]
Location_base_pair Starts at 66921216 and ends at 66958551 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TYW1 (7q11.21) / TMEM248 (7q11.21)

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)TMEM248   25476
Cards
Entrez_Gene (NCBI)TMEM248  55069  transmembrane protein 248
AliasesC7orf42
GeneCards (Weizmann)TMEM248
Ensembl hg19 (Hinxton)ENSG00000106609 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000106609 [Gene_View]  chr7:66921216-66958551 [Contig_View]  TMEM248 [Vega]
ICGC DataPortalENSG00000106609
TCGA cBioPortalTMEM248
AceView (NCBI)TMEM248
Genatlas (Paris)TMEM248
WikiGenes55069
SOURCE (Princeton)TMEM248
Genetics Home Reference (NIH)TMEM248
Genomic and cartography
GoldenPath hg38 (UCSC)TMEM248  -     chr7:66921216-66958551 +  7q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMEM248  -     7q11.21   [Description]    (hg19-Feb_2009)
EnsemblTMEM248 - 7q11.21 [CytoView hg19]  TMEM248 - 7q11.21 [CytoView hg38]
Mapping of homologs : NCBITMEM248 [Mapview hg19]  TMEM248 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK000961 AK023152 AK222774 BC008675 BC010519
RefSeq transcript (Entrez)NM_017994
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMEM248
Cluster EST : UnigeneHs.488478 [ NCBI ]
CGAP (NCI)Hs.488478
Alternative Splicing GalleryENSG00000106609
Gene ExpressionTMEM248 [ NCBI-GEO ]   TMEM248 [ EBI - ARRAY_EXPRESS ]   TMEM248 [ SEEK ]   TMEM248 [ MEM ]
Gene Expression Viewer (FireBrowse)TMEM248 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55069
GTEX Portal (Tissue expression)TMEM248
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NWD8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NWD8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NWD8
Splice isoforms : SwissVarQ9NWD8
PhosPhoSitePlusQ9NWD8
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)TMEM248
DMDM Disease mutations55069
Blocks (Seattle)TMEM248
SuperfamilyQ9NWD8
Human Protein AtlasENSG00000106609
Peptide AtlasQ9NWD8
HPRD08541
IPIIPI00604449   IPI00852976   IPI00925229   IPI00926025   IPI00925347   
Protein Interaction databases
DIP (DOE-UCLA)Q9NWD8
IntAct (EBI)Q9NWD8
FunCoupENSG00000106609
BioGRIDTMEM248
STRING (EMBL)TMEM248
ZODIACTMEM248
Ontologies - Pathways
QuickGOQ9NWD8
Ontology : AmiGOprotein binding  integral component of membrane  
Ontology : EGO-EBIprotein binding  integral component of membrane  
NDEx NetworkTMEM248
Atlas of Cancer Signalling NetworkTMEM248
Wikipedia pathwaysTMEM248
Orthology - Evolution
OrthoDB55069
GeneTree (enSembl)ENSG00000106609
Phylogenetic Trees/Animal Genes : TreeFamTMEM248
HOVERGENQ9NWD8
HOGENOMQ9NWD8
Homologs : HomoloGeneTMEM248
Homology/Alignments : Family Browser (UCSC)TMEM248
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMEM248 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMEM248
dbVarTMEM248
ClinVarTMEM248
1000_GenomesTMEM248 
Exome Variant ServerTMEM248
ExAC (Exome Aggregation Consortium)TMEM248 (select the gene name)
Genetic variants : HAPMAP55069
Genomic Variants (DGV)TMEM248 [DGVbeta]
DECIPHERTMEM248 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMEM248 
Mutations
ICGC Data PortalTMEM248 
TCGA Data PortalTMEM248 
Broad Tumor PortalTMEM248
OASIS PortalTMEM248 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDTMEM248
BioMutasearch TMEM248
DgiDB (Drug Gene Interaction Database)TMEM248
DoCM (Curated mutations)TMEM248 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMEM248 (select a term)
intoGenTMEM248
Cancer3DTMEM248(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenTMEM248
Genetic Testing Registry TMEM248
NextProtQ9NWD8 [Medical]
TSGene55069
GENETestsTMEM248
Target ValidationTMEM248
Huge Navigator TMEM248 [HugePedia]
snp3D : Map Gene to Disease55069
BioCentury BCIQTMEM248
ClinGenTMEM248
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55069
Chemical/Pharm GKB GenePA147358581
Clinical trialTMEM248
Miscellaneous
canSAR (ICR)TMEM248 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMEM248
EVEXTMEM248
GoPubMedTMEM248
iHOPTMEM248
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:41:55 CEST 2017

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