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FTL (ferritin, light polypeptide)

Identity

Alias_namesferritin
Alias_symbol (synonym)MGC71996
NBIA3
HGNC (Hugo) FTL
LocusID (NCBI) 2512
Atlas_Id 45708
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 49468566 and ends at 49470136 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATG13 (11p11.2) / FTL (19q13.33)FAM126B (2q33.1) / FTL (19q13.33)FTL (19q13.33) / ADAR (1q21.3)
FTL (19q13.33) / ADD3 (10q25.1)FTL (19q13.33) / CXCR4 (2q22.1)FTL (19q13.33) / FTL (19q13.33)
FTL (19q13.33) / GBP4 (1p22.2)FTL (19q13.33) / KPNA4 (3q25.33)FTL (19q13.33) / LOC100133331 (1p36.33)
FTL (19q13.33) / MAP3K5 (6q23.3)FTL (19q13.33) / SFPQ (16q24.1)FTL (19q13.33) / SFTPA2 (10q22.3)
FTL (19q13.33) / SUMO3 (21q22.3)FTL (19q13.33) / TIMP2 (17q25.3)FTL (19q13.33) / TUBA1B (12q13.12)
KIF3A (5q31.1) / FTL (19q13.33)MPRIP (17p11.2) / FTL (19q13.33)NHSL1 (6q23.3) / FTL (19q13.33)
R3HDM2 (12q13.3) / FTL (19q13.33)SURF4 (9q34.2) / FTL (19q13.33)TCF12 (15q21.3) / FTL (19q13.33)
WBP2 (17q25.1) / FTL (19q13.33)ZNF385B (2q31.2) / FTL (19q13.33)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Adenocarcinoma


External links

Nomenclature
HGNC (Hugo)FTL   3999
Cards
Entrez_Gene (NCBI)FTL  2512  ferritin, light polypeptide
AliasesLFTD; NBIA3
GeneCards (Weizmann)FTL
Ensembl hg19 (Hinxton)ENSG00000087086 [Gene_View]  chr19:49468566-49470136 [Contig_View]  FTL [Vega]
Ensembl hg38 (Hinxton)ENSG00000087086 [Gene_View]  chr19:49468566-49470136 [Contig_View]  FTL [Vega]
ICGC DataPortalENSG00000087086
TCGA cBioPortalFTL
AceView (NCBI)FTL
Genatlas (Paris)FTL
WikiGenes2512
SOURCE (Princeton)FTL
Genetics Home Reference (NIH)FTL
Genomic and cartography
GoldenPath hg19 (UCSC)FTL  -     chr19:49468566-49470136 +  19q13.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FTL  -     19q13.33   [Description]    (hg38-Dec_2013)
EnsemblFTL - 19q13.33 [CytoView hg19]  FTL - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIFTL [Mapview hg19]  FTL [Mapview hg38]
OMIM134790   600886   606159   615604   
Gene and transcription
Genbank (Entrez)AF147331 AK026534 AK130191 AK130205 AK131048
RefSeq transcript (Entrez)NM_000146
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_008152 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)FTL
Cluster EST : UnigeneHs.728304 [ NCBI ]
CGAP (NCI)Hs.728304
Alternative Splicing GalleryENSG00000087086
Gene ExpressionFTL [ NCBI-GEO ]   FTL [ EBI - ARRAY_EXPRESS ]   FTL [ SEEK ]   FTL [ MEM ]
Gene Expression Viewer (FireBrowse)FTL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2512
GTEX Portal (Tissue expression)FTL
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02792   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP02792  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02792
Splice isoforms : SwissVarP02792
PhosPhoSitePlusP02792
Domaine pattern : Prosite (Expaxy)FERRITIN_1 (PS00540)    FERRITIN_2 (PS00204)    FERRITIN_LIKE (PS50905)   
Domains : Interpro (EBI)Ferritin    Ferritin-like_diiron    Ferritin-like_SF    Ferritin-rel    Ferritin_CS    Ferritin_DPS_dom   
Domain families : Pfam (Sanger)Ferritin (PF00210)   
Domain families : Pfam (NCBI)pfam00210   
Conserved Domain (NCBI)FTL
DMDM Disease mutations2512
Blocks (Seattle)FTL
PDB (SRS)2FFX    2FG4    2FG8    3KXU    4V6B   
PDB (PDBSum)2FFX    2FG4    2FG8    3KXU    4V6B   
PDB (IMB)2FFX    2FG4    2FG8    3KXU    4V6B   
PDB (RSDB)2FFX    2FG4    2FG8    3KXU    4V6B   
Structural Biology KnowledgeBase2FFX    2FG4    2FG8    3KXU    4V6B   
SCOP (Structural Classification of Proteins)2FFX    2FG4    2FG8    3KXU    4V6B   
CATH (Classification of proteins structures)2FFX    2FG4    2FG8    3KXU    4V6B   
SuperfamilyP02792
Human Protein AtlasENSG00000087086
Peptide AtlasP02792
HPRD00616
IPIIPI01014563   IPI00375676   IPI00383310   
Protein Interaction databases
DIP (DOE-UCLA)P02792
IntAct (EBI)P02792
FunCoupENSG00000087086
BioGRIDFTL
STRING (EMBL)FTL
ZODIACFTL
Ontologies - Pathways
QuickGOP02792
Ontology : AmiGOiron ion binding  protein binding  cytosol  iron ion transport  cellular iron ion homeostasis  intracellular ferritin complex  ferric iron binding  membrane  identical protein binding  iron ion homeostasis  extracellular exosome  
Ontology : EGO-EBIiron ion binding  protein binding  cytosol  iron ion transport  cellular iron ion homeostasis  intracellular ferritin complex  ferric iron binding  membrane  identical protein binding  iron ion homeostasis  extracellular exosome  
Pathways : KEGGPorphyrin and chlorophyll metabolism    Mineral absorption   
NDEx NetworkFTL
Atlas of Cancer Signalling NetworkFTL
Wikipedia pathwaysFTL
Orthology - Evolution
OrthoDB2512
GeneTree (enSembl)ENSG00000087086
Phylogenetic Trees/Animal Genes : TreeFamFTL
HOVERGENP02792
HOGENOMP02792
Homologs : HomoloGeneFTL
Homology/Alignments : Family Browser (UCSC)FTL
Gene fusions - Rearrangements
Fusion : MitelmanFTL/ADD3 [19q13.33/10q25.1]  
Fusion : MitelmanFTL/SFTPA2 [19q13.33/10q22.3]  [t(10;19)(q22;q13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFTL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FTL
dbVarFTL
ClinVarFTL
1000_GenomesFTL 
Exome Variant ServerFTL
ExAC (Exome Aggregation Consortium)FTL (select the gene name)
Genetic variants : HAPMAP2512
Genomic Variants (DGV)FTL [DGVbeta]
DECIPHER (Syndromes)19:49468566-49470136  ENSG00000087086
CONAN: Copy Number AnalysisFTL 
Mutations
ICGC Data PortalFTL 
TCGA Data PortalFTL 
Broad Tumor PortalFTL
OASIS PortalFTL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFTL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFTL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch FTL
DgiDB (Drug Gene Interaction Database)FTL
DoCM (Curated mutations)FTL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FTL (select a term)
intoGenFTL
Cancer3DFTL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM134790    600886    606159    615604   
Orphanet1580    17155    19766    23415    23415   
MedgenFTL
Genetic Testing Registry FTL
NextProtP02792 [Medical]
TSGene2512
GENETestsFTL
Huge Navigator FTL [HugePedia]
snp3D : Map Gene to Disease2512
BioCentury BCIQFTL
ClinGenFTL (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2512
Chemical/Pharm GKB GenePA28412
Clinical trialFTL
Miscellaneous
canSAR (ICR)FTL (select the gene name)
Probes
Litterature
PubMed151 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFTL
EVEXFTL
GoPubMedFTL
iHOPFTL
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 : Fri Nov 18 19:37:52 CET 2016

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