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MFAP3L (microfibrillar associated protein 3 like)

Identity

Alias_symbol (synonym)KIAA0626
NYD-sp9
Other alias
HGNC (Hugo) MFAP3L
LocusID (NCBI) 9848
Atlas_Id 54905
Location 4q33  [Link to chromosome band 4q33]
Location_base_pair Starts at 169986597 and ends at 170003792 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MFAP3L (4q33) / AADAT (4q33)MFAP3L (4q33) / MFAP3L (4q33)

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)MFAP3L   29083
Cards
Entrez_Gene (NCBI)MFAP3L  9848  microfibrillar associated protein 3 like
AliasesNYD-sp9
GeneCards (Weizmann)MFAP3L
Ensembl hg19 (Hinxton)ENSG00000198948 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198948 [Gene_View]  chr4:169986597-170003792 [Contig_View]  MFAP3L [Vega]
ICGC DataPortalENSG00000198948
TCGA cBioPortalMFAP3L
AceView (NCBI)MFAP3L
Genatlas (Paris)MFAP3L
WikiGenes9848
SOURCE (Princeton)MFAP3L
Genetics Home Reference (NIH)MFAP3L
Genomic and cartography
GoldenPath hg38 (UCSC)MFAP3L  -     chr4:169986597-170003792 -  4q33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MFAP3L  -     4q33   [Description]    (hg19-Feb_2009)
EnsemblMFAP3L - 4q33 [CytoView hg19]  MFAP3L - 4q33 [CytoView hg38]
Mapping of homologs : NCBIMFAP3L [Mapview hg19]  MFAP3L [Mapview hg38]
OMIM616523   
Gene and transcription
Genbank (Entrez)AB014526 AF327560 AK290041 AK308263 AW015769
RefSeq transcript (Entrez)NM_001009554 NM_001301647 NM_001301648 NM_021647
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MFAP3L
Cluster EST : UnigeneHs.733667 [ NCBI ]
CGAP (NCI)Hs.733667
Alternative Splicing GalleryENSG00000198948
Gene ExpressionMFAP3L [ NCBI-GEO ]   MFAP3L [ EBI - ARRAY_EXPRESS ]   MFAP3L [ SEEK ]   MFAP3L [ MEM ]
Gene Expression Viewer (FireBrowse)MFAP3L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9848
GTEX Portal (Tissue expression)MFAP3L
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75121   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75121  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75121
Splice isoforms : SwissVarO75121
PhosPhoSitePlusO75121
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2   
Domain families : Pfam (Sanger)I-set (PF07679)   
Domain families : Pfam (NCBI)pfam07679   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)MFAP3L
DMDM Disease mutations9848
Blocks (Seattle)MFAP3L
SuperfamilyO75121
Human Protein AtlasENSG00000198948
Peptide AtlasO75121
HPRD14391
IPIIPI00479746   IPI00427595   IPI00607592   IPI00964371   IPI00967217   IPI00966962   IPI00966767   IPI00968091   IPI00964066   
Protein Interaction databases
DIP (DOE-UCLA)O75121
IntAct (EBI)O75121
FunCoupENSG00000198948
BioGRIDMFAP3L
STRING (EMBL)MFAP3L
ZODIACMFAP3L
Ontologies - Pathways
QuickGOO75121
Ontology : AmiGOprotein binding  nucleus  cytoplasm  plasma membrane  integral component of membrane  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  plasma membrane  integral component of membrane  
NDEx NetworkMFAP3L
Atlas of Cancer Signalling NetworkMFAP3L
Wikipedia pathwaysMFAP3L
Orthology - Evolution
OrthoDB9848
GeneTree (enSembl)ENSG00000198948
Phylogenetic Trees/Animal Genes : TreeFamMFAP3L
HOVERGENO75121
HOGENOMO75121
Homologs : HomoloGeneMFAP3L
Homology/Alignments : Family Browser (UCSC)MFAP3L
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMFAP3L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MFAP3L
dbVarMFAP3L
ClinVarMFAP3L
1000_GenomesMFAP3L 
Exome Variant ServerMFAP3L
ExAC (Exome Aggregation Consortium)MFAP3L (select the gene name)
Genetic variants : HAPMAP9848
Genomic Variants (DGV)MFAP3L [DGVbeta]
DECIPHERMFAP3L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMFAP3L 
Mutations
ICGC Data PortalMFAP3L 
TCGA Data PortalMFAP3L 
Broad Tumor PortalMFAP3L
OASIS PortalMFAP3L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMFAP3L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMFAP3L
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
BioMutasearch MFAP3L
DgiDB (Drug Gene Interaction Database)MFAP3L
DoCM (Curated mutations)MFAP3L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MFAP3L (select a term)
intoGenMFAP3L
Cancer3DMFAP3L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616523   
Orphanet
MedgenMFAP3L
Genetic Testing Registry MFAP3L
NextProtO75121 [Medical]
TSGene9848
GENETestsMFAP3L
Target ValidationMFAP3L
Huge Navigator MFAP3L [HugePedia]
snp3D : Map Gene to Disease9848
BioCentury BCIQMFAP3L
ClinGenMFAP3L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9848
Chemical/Pharm GKB GenePA134974574
Clinical trialMFAP3L
Miscellaneous
canSAR (ICR)MFAP3L (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMFAP3L
EVEXMFAP3L
GoPubMedMFAP3L
iHOPMFAP3L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:42:52 CEST 2017

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