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MFSD8 (major facilitator superfamily domain containing 8)

Identity

Alias_namesCLN7
ceroid-lipofuscinosis, neuronal 7, late infantile, variant
Alias_symbol (synonym)MGC33302
Other aliasCCMD
HGNC (Hugo) MFSD8
LocusID (NCBI) 256471
Atlas_Id 68946
Location 4q28.2  [Link to chromosome band 4q28]
Location_base_pair Starts at 128838960 and ends at 128887139 bp from pter ( according to hg19-Feb_2009)

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)MFSD8   28486
LRG (Locus Reference Genomic)LRG_833
Cards
Entrez_Gene (NCBI)MFSD8  256471  major facilitator superfamily domain containing 8
AliasesCCMD; CLN7
GeneCards (Weizmann)MFSD8
Ensembl hg19 (Hinxton)ENSG00000164073 [Gene_View]  chr4:128838960-128887139 [Contig_View]  MFSD8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000164073 [Gene_View]  chr4:128838960-128887139 [Contig_View]  MFSD8 [Vega]
ICGC DataPortalENSG00000164073
TCGA cBioPortalMFSD8
AceView (NCBI)MFSD8
Genatlas (Paris)MFSD8
WikiGenes256471
SOURCE (Princeton)MFSD8
Genetics Home Reference (NIH)MFSD8
Genomic and cartography
GoldenPath hg19 (UCSC)MFSD8  -     chr4:128838960-128887139 -  4q28.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MFSD8  -     4q28.2   [Description]    (hg38-Dec_2013)
EnsemblMFSD8 - 4q28.2 [CytoView hg19]  MFSD8 - 4q28.2 [CytoView hg38]
Mapping of homologs : NCBIMFSD8 [Mapview hg19]  MFSD8 [Mapview hg38]
OMIM610951   611124   616170   
Gene and transcription
Genbank (Entrez)AA242881 AK074564 AK294184 AK294439 AK294527
RefSeq transcript (Entrez)NM_152778
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_008657 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)MFSD8
Cluster EST : UnigeneHs.480701 [ NCBI ]
CGAP (NCI)Hs.480701
Alternative Splicing GalleryENSG00000164073
Gene ExpressionMFSD8 [ NCBI-GEO ]   MFSD8 [ EBI - ARRAY_EXPRESS ]   MFSD8 [ SEEK ]   MFSD8 [ MEM ]
Gene Expression Viewer (FireBrowse)MFSD8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)256471
GTEX Portal (Tissue expression)MFSD8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NHS3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NHS3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NHS3
Splice isoforms : SwissVarQ8NHS3
PhosPhoSitePlusQ8NHS3
Domaine pattern : Prosite (Expaxy)MFS (PS50850)   
Domains : Interpro (EBI)MFS    MFS_dom   
Domain families : Pfam (Sanger)MFS_1 (PF07690)   
Domain families : Pfam (NCBI)pfam07690   
Conserved Domain (NCBI)MFSD8
DMDM Disease mutations256471
Blocks (Seattle)MFSD8
SuperfamilyQ8NHS3
Human Protein AtlasENSG00000164073
Peptide AtlasQ8NHS3
HPRD14557
IPIIPI00296258   IPI00921932   IPI00922612   IPI00965439   
Protein Interaction databases
DIP (DOE-UCLA)Q8NHS3
IntAct (EBI)Q8NHS3
FunCoupENSG00000164073
BioGRIDMFSD8
STRING (EMBL)MFSD8
ZODIACMFSD8
Ontologies - Pathways
QuickGOQ8NHS3
Ontology : AmiGOnucleoplasm  lysosomal membrane  lysosome organization  integral component of membrane  intracellular membrane-bounded organelle  transmembrane transport  
Ontology : EGO-EBInucleoplasm  lysosomal membrane  lysosome organization  integral component of membrane  intracellular membrane-bounded organelle  transmembrane transport  
Pathways : KEGGLysosome   
NDEx NetworkMFSD8
Atlas of Cancer Signalling NetworkMFSD8
Wikipedia pathwaysMFSD8
Orthology - Evolution
OrthoDB256471
GeneTree (enSembl)ENSG00000164073
Phylogenetic Trees/Animal Genes : TreeFamMFSD8
HOVERGENQ8NHS3
HOGENOMQ8NHS3
Homologs : HomoloGeneMFSD8
Homology/Alignments : Family Browser (UCSC)MFSD8
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMFSD8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MFSD8
dbVarMFSD8
ClinVarMFSD8
1000_GenomesMFSD8 
Exome Variant ServerMFSD8
ExAC (Exome Aggregation Consortium)MFSD8 (select the gene name)
Genetic variants : HAPMAP256471
Genomic Variants (DGV)MFSD8 [DGVbeta]
DECIPHER (Syndromes)4:128838960-128887139  ENSG00000164073
CONAN: Copy Number AnalysisMFSD8 
Mutations
ICGC Data PortalMFSD8 
TCGA Data PortalMFSD8 
Broad Tumor PortalMFSD8
OASIS PortalMFSD8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMFSD8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMFSD8
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
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MFSD8
DgiDB (Drug Gene Interaction Database)MFSD8
DoCM (Curated mutations)MFSD8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MFSD8 (select a term)
intoGenMFSD8
Cancer3DMFSD8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610951    611124    616170   
Orphanet19115   
MedgenMFSD8
Genetic Testing Registry MFSD8
NextProtQ8NHS3 [Medical]
TSGene256471
GENETestsMFSD8
Huge Navigator MFSD8 [HugePedia]
snp3D : Map Gene to Disease256471
BioCentury BCIQMFSD8
ClinGenMFSD8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD256471
Chemical/Pharm GKB GenePA162395842
Clinical trialMFSD8
Miscellaneous
canSAR (ICR)MFSD8 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMFSD8
EVEXMFSD8
GoPubMedMFSD8
iHOPMFSD8
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 12:28:13 CET 2017

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