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FBLN7 (fibulin 7)

Identity

Alias (NCBI)TM14
HGNC (Hugo) FBLN7
HGNC Alias symbFLJ37440
TM14
LocusID (NCBI) 129804
Atlas_Id 63309
Location 2q13  [Link to chromosome band 2q13]
Location_base_pair Starts at 112138385 and ends at 112188218 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)
FBLN7 (2q13) / ACAN (15q26.1)

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)FBLN7   26740
Cards
Entrez_Gene (NCBI)FBLN7    fibulin 7
AliasesTM14
GeneCards (Weizmann)FBLN7
Ensembl hg19 (Hinxton)ENSG00000144152 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144152 [Gene_View]  ENSG00000144152 [Sequence]  chr2:112138385-112188218 [Contig_View]  FBLN7 [Vega]
ICGC DataPortalENSG00000144152
TCGA cBioPortalFBLN7
AceView (NCBI)FBLN7
Genatlas (Paris)FBLN7
SOURCE (Princeton)FBLN7
Genetics Home Reference (NIH)FBLN7
Genomic and cartography
GoldenPath hg38 (UCSC)FBLN7  -     chr2:112138385-112188218 +  2q13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FBLN7  -     2q13   [Description]    (hg19-Feb_2009)
GoldenPathFBLN7 - 2q13 [CytoView hg19]  FBLN7 - 2q13 [CytoView hg38]
ImmunoBaseENSG00000144152
Genome Data Viewer NCBIFBLN7 [Mapview hg19]  
OMIM611551   
Gene and transcription
Genbank (Entrez)AK094759 AK123095 AK124067 BC035784 BC038242
RefSeq transcript (Entrez)NM_001128165 NM_153214
Consensus coding sequences : CCDS (NCBI)FBLN7
Gene ExpressionFBLN7 [ NCBI-GEO ]   FBLN7 [ EBI - ARRAY_EXPRESS ]   FBLN7 [ SEEK ]   FBLN7 [ MEM ]
Gene Expression Viewer (FireBrowse)FBLN7 [ Firebrowse - Broad ]
GenevisibleExpression of FBLN7 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)129804
GTEX Portal (Tissue expression)FBLN7
Human Protein AtlasENSG00000144152-FBLN7 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ53RD9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ53RD9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ53RD9
PhosPhoSitePlusQ53RD9
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    SUSHI (PS50923)   
Domains : Interpro (EBI)EGF-like_Ca-bd_dom    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Sushi/SCR/CCP_sf    Sushi_SCR_CCP_dom   
Domain families : Pfam (Sanger)EGF (PF00008)    EGF_CA (PF07645)    Sushi (PF00084)   
Domain families : Pfam (NCBI)pfam00008    pfam07645    pfam00084   
Domain families : Smart (EMBL)CCP (SM00032)  EGF (SM00181)  EGF_CA (SM00179)  
Conserved Domain (NCBI)FBLN7
SuperfamilyQ53RD9
AlphaFold pdb e-kbQ53RD9   
Human Protein Atlas [tissue]ENSG00000144152-FBLN7 [tissue]
HPRD08783
Protein Interaction databases
DIP (DOE-UCLA)Q53RD9
IntAct (EBI)Q53RD9
BioGRIDFBLN7
STRING (EMBL)FBLN7
ZODIACFBLN7
Ontologies - Pathways
QuickGOQ53RD9
Ontology : AmiGOcalcium ion binding  extracellular space  focal adhesion  cell adhesion  heparin binding  extracellular matrix  heparan sulfate proteoglycan binding  positive regulation of biomineralization  
Ontology : EGO-EBIcalcium ion binding  extracellular space  focal adhesion  cell adhesion  heparin binding  extracellular matrix  heparan sulfate proteoglycan binding  positive regulation of biomineralization  
NDEx NetworkFBLN7
Atlas of Cancer Signalling NetworkFBLN7
Wikipedia pathwaysFBLN7
Orthology - Evolution
OrthoDB129804
GeneTree (enSembl)ENSG00000144152
Phylogenetic Trees/Animal Genes : TreeFamFBLN7
Homologs : HomoloGeneFBLN7
Homology/Alignments : Family Browser (UCSC)FBLN7
Gene fusions - Rearrangements
Fusion : QuiverFBLN7
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFBLN7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FBLN7
dbVarFBLN7
ClinVarFBLN7
MonarchFBLN7
1000_GenomesFBLN7 
Exome Variant ServerFBLN7
GNOMAD BrowserENSG00000144152
Varsome BrowserFBLN7
ACMGFBLN7 variants
VarityQ53RD9
Genomic Variants (DGV)FBLN7 [DGVbeta]
DECIPHERFBLN7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFBLN7 
Mutations
ICGC Data PortalFBLN7 
TCGA Data PortalFBLN7 
Broad Tumor PortalFBLN7
OASIS PortalFBLN7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFBLN7  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DFBLN7
Mutations and Diseases : HGMDFBLN7
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaFBLN7
DgiDB (Drug Gene Interaction Database)FBLN7
DoCM (Curated mutations)FBLN7
CIViC (Clinical Interpretations of Variants in Cancer)FBLN7
Cancer3DFBLN7
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611551   
Orphanet
DisGeNETFBLN7
MedgenFBLN7
Genetic Testing Registry FBLN7
NextProtQ53RD9 [Medical]
GENETestsFBLN7
Target ValidationFBLN7
Huge Navigator FBLN7 [HugePedia]
ClinGenFBLN7
Clinical trials, drugs, therapy
MyCancerGenomeFBLN7
Protein Interactions : CTDFBLN7
Pharm GKB GenePA162388107
PharosQ53RD9
Clinical trialFBLN7
Miscellaneous
canSAR (ICR)FBLN7
HarmonizomeFBLN7
DataMed IndexFBLN7
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFBLN7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:50:22 CEST 2021

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