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FRZB (frizzled-related protein)

Written2012-06Sarah Thysen, Rik Lories
Laboratory for Skeletal Development, Joint Disorders, Department of Development, Regeneration, KU Leuven, Belgium

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)FRZB-PEN
FRZB1
SRFP3
FRP-3
SFRP3
FRE
FRITZ
FRZB-1
FZRB
hFIZ
Other aliasFRP
OS1
HGNC (Hugo) FRZB
LocusID (NCBI) 2487
Atlas_Id 44457
Location 2q32.1  [Link to chromosome band 2q32]
Location_base_pair Starts at 182833276 and ends at 182866770 bp from pter ( according to hg19-Feb_2009)  [Mapping FRZB.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FRZB (2q32.1) / FRZB (2q32.1)FRZB (2q32.1) / SDC2 (8q22.1)LOC100507412 (-) / FRZB (2q32.1)

DNA/RNA

 
  The FRZB gene (40762 bp) contains a total of 6 exons and the FRZB transcript is 978 bp.
Description Genomic size: 40762 bp, encoded by 6 exons.
Transcription Transcript length: 3162 bp; mRNA: 978 bp.
Pseudogene Human FRZB has only 1 known transcript.

Protein

 
  Structure of FRZB. FRZB contains a cysteine-rich domain (CRD) and a Netrin-like (NTN) domain. It is hypothesised that the antagonistic effects of FRZB can be explained by the binding of WNTs to the CRD domain.
Description FRZB protein is comprised of 325 amino acids with a molecular weight of 36 kDa. FRZB is a member of the secreted frizzled related protein (SFRP) family, of which five members (SFRP1 to SFRP5) are known within the human genome. SFRPs fold into two independent domains, the cysteine-rich domain (CRD) and the Netrin-like domain (NTN). The CRD domain shares sequence homology with the extracellular portion of the WNT receptor Frizzled (Fz). Therefore, the CRD domain is considered the WNT binding domain. The NTN domain contains six cysteine residues that most likely form three disulfide bridges and NTN domains with similar features are found in several unrelated proteins, including Netrin-1, tissue inhibitors of metallo-proteinases (TIMPs), complement proteins and type I procollagen C-proteinase enhancer proteins (PCOLCEs). The overall function of the NTN domain is unknown. However, one study demonstrated that both domains are necessary for optimal WNT inhibition (Jones et al., 2002; Bath et al., 2007).
Expression SFRP3 (FRZB) was originally isolated from bovine articular cartilage. During human embryonic and fetal development FRZB is primarily expressed in cartilaginous cores of developing long bones (Hoang et al., 1996). In the early mouse embryo, mFrzb-1 is expressed in the primitive streak, presomitic mesoderm, somites, and brain. Later, mFrzb-1 exhibits sharp boundaries of expression in the limb bud, branchial arches, facial mesenchyme, and in cartilaginous elements of the appendicular skeleton (Hoang et al., 1998).
Localisation Extracellular space, bound to plasma membrane.
Function FRZB is involved in the WNT/beta-catenin signalling pathway by acting as an inhibitor by binding to WNT ligands. However, recent studies indicate that SFRPs can modulate WNT signalling and are able to interact with molecules that are unrelated to the WNT signalling cascades and among which there is no apparent relationship (Bovolenta et al., 2008).
Homology FRZB is a member of the secreted frizzled related protein (SFRP) family (SFRP1-5). Based on their amino acid sequence homology, they are divided into a subgroup consisting of SFRP1, SFRP2 and SFRP5 and a subgroup comprising SFRP3 (FRZB) and SFRP4.
SFRPs contain a CRD domain that shares sequence homology with the extracellular portion of the WNT receptor Frizzled (Fz) (Jones et al., 2005).

Mutations

Germinal The only clinically associated variants of FRZB are Arg200Trp (exon 4) and Arg324Gly (exon 6). Both of them are substitutions for a conserved arginine residue. One or two FRZB SNPs or a haplotype containing both were found to be associated to knee, hip, generalized and radiographic osteoarthritis (Loughlin et al., 2004; Min et al., 2005; Lories et al., 2005; Lane et al., 2006; Valdes et al., 2007). However, the results from a recent meta-analysis showing no overall effect of FRZB genetic variants on hip or knee OA debated this association (Evangelou et al., 2009).

Implicated in

Note
  
Entity Osteoarthritis
Note Osteoarthritis is a chronic degenerative joint disease without underlying autoimmune or autoinflammatory mechanisms. The disease leads to pain and disability and affects millions of people worldwide. Although once considered as a disease of the articular cartilage, the current concept holds that the whole joint is involved, including the subchondral bone, menisci, ligaments, periarticular muscle, capsule and synovium. Osteoarthritis is a complex disorder to which both genetic and acquired factors contribute (Hunter et al., 2006).
Polymorphisms in FRZB (Arg200Trp and Arg324Gly) have been associated with osteoarthritis (Loughlin et al., 2004; Min et al., 2005; Lories et al., 2005; Lane et al., 2006; Valdes et al., 2007). However, the results from a recent meta-analysis showing no overall effect of FRZB genetic variants on hip or knee OA debated this association (Evangelou et al., 2009). Recently, a transcriptomics analysis in Frzb-/- mice provided evidence for a tight regulation of WNT signalling and highlighted the complex role for FRZB in joint homeostasis (Lodewyckx et al., 2012). Moreover, Frzb-/- mice show increased cartilage damage when challenged by different models of acute and short-term joint, suggesting a role for FRZB in osteoarthritis. The observed cartilage damage was associated with increased WNT signalling and matrix metalloproteinase 3 (MMP-3) expression and activity. Additionally, Frzb-/- mice have increased cortical bone thickness and density without changes in the trabecular bone (Lories et al., 2007).
Cytogenetics The haplotype coding for substitutions of two highly conserved arginine residues (Arg200Trp and Arg324Gly) in FRZB are associated with hip osteoarthritis in females. Moreover, transfection studies indicated that substitutions of these positively charged residues reduced the ability of FRZB to inhibit WNT signalling (Loughlin et al., 2004). Additionally, an association analysis confirmed that the R324G variant of the FRZB gene is involved in osteoarthritis and indicates a role of this variant in several generalized OA phenotypes (Min et al., 2005). Next, evidence was found for a differential association of the FRZB Arg200Trp polymorphism with hip osteoarthritis and osteoporosis (Lories et al., 2005). Lane et al. confirmed the earlier finding that a rare haplotype with both Arg200Trp and Arg324Gly FRZB variants contributes to hip osteoarthritis in women. Further, an association of genetic polymorphisms of FRZB and knee osteoarthritis was found (Valdes et al., 2007). In contrast, Rodriguez-Lopez et al. could not find an association of FRZB polymorphisms with either generalised osteoarthritis or hip OA. But, their results suggest that the Arg324Gly SNP may have an effect in the development of osteoarthritis in multiple joints. Furthermore, a large-scale meta-analysis of individual-level data does not support the association of SNPs of FRZB with osteoarthritis (Evangelou et al., 2009).
  
  
Entity Colorectal cancer
Note The functional genetic variant Arg324Gly of FRZB was shown to be associated with colorectal cancer risk (Shanmugam et al., 2007). However, Berndt et al. observed no association for either polymorphisms (Arg324Gly and Arg200Trp) or any haplotypes with colorectal adenoma or colorectal cancer.
  
  
Entity Gastric cancer
Note Overexpression of FRZB in gastric cancer cell suppresses proliferation and modulates the balance between proliferation and differentiation in gastric cancer (Qu et al., 2008c). Additionally, FRZB exhibits anti-tumor ability in gastric cancer cell line SGC-7901 in vitro and in vivo, and decreases the expression of MMP-2, MMP-7 and MMP-9 leading to a reduced invasion ability of the tumor cells (Qu et al., 2008b).
  
  
Entity Prostate cancer
Note Ectopic expression of FRZB in an androgen-independent prostate cancer cellular model results in the suppression of tumor growth and cellular invasiveness. This provides evidence that FRZB can act as a tumor suppressor gene (Zi et al., 2005).
  
  
Entity Osteogenic sarcoma
Note Micro-array analysis shows that FRZB has virtually no mRNA expression in osteogenic sarcoma-derived specimens compared to control (Mandal et al., 2007).
  
  
Entity Breast cancer
Note Expression of FRZB is turned off in breast carcinomas (versus normal breasts). These results suggest that FRZB is a candidate gene for malignancies (Ugolini et al., 1999).
  
  
Entity Renal cancer
Note A kidney tissue microarray and analysis of FRZB overexpression in a renal cancer cell line shows that sFRP3 expression promotes cell growth, invasion, and inhibition of apoptosis in renal cancer cells (Hirata et al., 2010).
  
  
Entity Bladder cancer
Note Methylation of HOXB2, KRT13 and FRZB are associated with aggressive invasive bladder cancer (Marsit et al., 2010).
  
  
Entity Malignant pleural mesothelioma
Note The transcription of the SFRP family is frequently down-regulated in human malignant pleural mesothelioma (Lee et al., 2004).
  
  
Entity Soft tissue sarcomas
Note FRZB overexpression in fibrosarcoma and liposarcoma cell lines reduces cell motility, invasiveness and tumorigenesis. These results implicate an important tumor suppressive function for FRZB in sarcomas (Guo et al., 2008).
  
  
Entity Melanoma
Note FRZB expression is reduced in malignant melanoma tissues and cell lines compared to normal cells and this down-regulation is related to methylation of the FRZB gene. Additionally, recombinant FRZB decreases migration and invasion of melanoma cells (Ekström et al., 2011).
  

Bibliography

Genetic variants in frizzled-related protein (FRZB) and the risk of colorectal neoplasia.
Berndt SI, Huang WY, Yeager M, Weissfeld JL, Chanock SJ, Hayes RB.
Cancer Causes Control. 2009 May;20(4):487-90. Epub 2008 Dec 9.
PMID 19067193
 
Structure-function analysis of secreted frizzled-related protein-1 for its Wnt antagonist function.
Bhat RA, Stauffer B, Komm BS, Bodine PV.
J Cell Biochem. 2007 Dec 15;102(6):1519-28.
PMID 17471511
 
Beyond Wnt inhibition: new functions of secreted Frizzled-related proteins in development and disease.
Bovolenta P, Esteve P, Ruiz JM, Cisneros E, Lopez-Rios J.
J Cell Sci. 2008 Mar 15;121(Pt 6):737-46. (REVIEW)
PMID 18322270
 
Methylation and loss of Secreted Frizzled-Related Protein 3 enhances melanoma cell migration and invasion.
Ekstrom EJ, Sherwood V, Andersson T.
PLoS One. 2011 Apr 8;6(4):e18674.
PMID 21494614
 
Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand.
Evangelou E, Chapman K, Meulenbelt I, Karassa FB, Loughlin J, Carr A, Doherty M, Doherty S, Gomez-Reino JJ, Gonzalez A, Halldorsson BV, Hauksson VB, Hofman A, Hart DJ, Ikegawa S, Ingvarsson T, Jiang Q, Jonsdottir I, Jonsson H, Kerkhof HJ, Kloppenburg M, Lane NE, Li J, Lories RJ, van Meurs JB, Nakki A, Nevitt MC, Rodriguez-Lopez J, Shi D, Slagboom PE, Stefansson K, Tsezou A, Wallis GA, Watson CM, Spector TD, Uitterlinden AG, Valdes AM, Ioannidis JP.
Arthritis Rheum. 2009 Jun;60(6):1710-21.
PMID 19479880
 
Frzb, a secreted Wnt antagonist, decreases growth and invasiveness of fibrosarcoma cells associated with inhibition of Met signaling.
Guo Y, Xie J, Rubin E, Tang YX, Lin F, Zi X, Hoang BH.
Cancer Res. 2008 May 1;68(9):3350-60.
PMID 18451162
 
Role of secreted frizzled-related protein 3 in human renal cell carcinoma.
Hirata H, Hinoda Y, Ueno K, Majid S, Saini S, Dahiya R.
Cancer Res. 2010 Mar 1;70(5):1896-905. Epub 2010 Feb 16.
PMID 20160027
 
Osteoarthritis.
Hunter DJ, Felson DT.
BMJ. 2006 Mar 18;332(7542):639-42. (REVIEW)
PMID 16543327
 
Secreted Frizzled-related proteins: searching for relationships and patterns.
Jones SE, Jomary C.
Bioessays. 2002 Sep;24(9):811-20. (REVIEW)
PMID 12210517
 
Frizzled-related protein variants are risk factors for hip osteoarthritis.
Lane NE, Lian K, Nevitt MC, Zmuda JM, Lui L, Li J, Wang J, Fontecha M, Umblas N, Rosenbach M, de Leon P, Corr M.
Arthritis Rheum. 2006 Apr;54(4):1246-54.
PMID 16572458
 
Expression of the secreted frizzled-related protein gene family is downregulated in human mesothelioma.
Lee AY, He B, You L, Dadfarmay S, Xu Z, Mazieres J, Mikami I, McCormick F, Jablons DM.
Oncogene. 2004 Aug 26;23(39):6672-6.
PMID 15221014
 
Tight regulation of wingless-type signaling in the articular cartilage - subchondral bone biomechanical unit: transcriptomics in Frzb-knockout mice.
Lodewyckx L, Cailotto F, Thysen S, Luyten FP, Lories RJ.
Arthritis Res Ther. 2012 Jan 20;14(1):R16.
PMID 22264237
 
Evidence for a differential association of the Arg200Trp single-nucleotide polymorphism in FRZB with hip osteoarthritis and osteoporosis.
Lories RJ, Boonen S, Peeters J, de Vlam K, Luyten FP.
Rheumatology (Oxford). 2006 Jan;45(1):113-4. Epub 2005 Nov 15.
PMID 16287928
 
Articular cartilage and biomechanical properties of the long bones in Frzb-knockout mice.
Lories RJ, Peeters J, Bakker A, Tylzanowski P, Derese I, Schrooten J, Thomas JT, Luyten FP.
Arthritis Rheum. 2007 Dec;56(12):4095-103.
PMID 18050203
 
Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females.
Loughlin J, Dowling B, Chapman K, Marcelline L, Mustafa Z, Southam L, Ferreira A, Ciesielski C, Carson DA, Corr M.
Proc Natl Acad Sci U S A. 2004 Jun 29;101(26):9757-62. Epub 2004 Jun 21.
PMID 15210948
 
Severe suppression of Frzb/sFRP3 transcription in osteogenic sarcoma.
Mandal D, Srivastava A, Mahlum E, Desai D, Maran A, Yaszemski M, Jalal SM, Gitelis S, Bertoni F, Damron T, Irwin R, O'connor M, Schwartz H, Bolander ME, Sarkar G.
Gene. 2007 Jan 15;386(1-2):131-8. Epub 2006 Sep 20.
PMID 17079093
 
Identification of methylated genes associated with aggressive bladder cancer.
Marsit CJ, Houseman EA, Christensen BC, Gagne L, Wrensch MR, Nelson HH, Wiemels J, Zheng S, Wiencke JK, Andrew AS, Schned AR, Karagas MR, Kelsey KT.
PLoS One. 2010 Aug 23;5(8):e12334.
PMID 20808801
 
Association of the Frizzled-related protein gene with symptomatic osteoarthritis at multiple sites.
Min JL, Meulenbelt I, Riyazi N, Kloppenburg M, Houwing-Duistermaat JJ, Seymour AB, Pols HA, van Duijn CM, Slagboom PE.
Arthritis Rheum. 2005 Apr;52(4):1077-80.
PMID 15818669
 
Expression and intracellular localization of FRZB gene in gastric cancer and its significance.
Qu Y, Cai Q, Li JF, Wang YW, Liu BY, Zhu ZG.
Zhonghua Wei Chang Wai Ke Za Zhi. 2008a Mar;11(2):154-8.
PMID 18344084
 
Over-expression of FRZB in gastric cancer cell suppresses proliferation and induces differentiation.
Qu Y, Li JF, Cai Q, Wang YW, Gu QL, Zhu ZG, Liu BY.
J Cancer Res Clin Oncol. 2008c Mar;134(3):353-64. Epub 2007 Aug 7.
PMID 17680269
 
Further evidence of the role of frizzled-related protein gene polymorphisms in osteoarthritis.
Rodriguez-Lopez J, Pombo-Suarez M, Liz M, Gomez-Reino JJ, Gonzalez A.
Ann Rheum Dis. 2007 Aug;66(8):1052-5. Epub 2007 Jan 19.
PMID 17237116
 
The functional genetic variant Arg324Gly of frizzled-related protein is associated with colorectal cancer risk.
Shanmugam KS, Brenner H, Hoffmeister M, Chang-Claude J, Burwinkel B.
Carcinogenesis. 2007 Sep;28(9):1914-7. Epub 2007 Apr 9.
PMID 17420170
 
Differential expression assay of chromosome arm 8p genes identifies Frizzled-related (FRP1/FRZB) and Fibroblast Growth Factor Receptor 1 (FGFR1) as candidate breast cancer genes.
Ugolini F, Adelaide J, Charafe-Jauffret E, Nguyen C, Jacquemier J, Jordan B, Birnbaum D, Pebusque MJ.
Oncogene. 1999 Mar 11;18(10):1903-10.
PMID 10086345
 
Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee.
Valdes AM, Loughlin J, Oene MV, Chapman K, Surdulescu GL, Doherty M, Spector TD.
Arthritis Rheum. 2007 Jan;56(1):137-46.
PMID 17195216
 
Expression of Frzb/secreted Frizzled-related protein 3, a secreted Wnt antagonist, in human androgen-independent prostate cancer PC-3 cells suppresses tumor growth and cellular invasiveness.
Zi X, Guo Y, Simoneau AR, Hope C, Xie J, Holcombe RF, Hoang BH.
Cancer Res. 2005 Nov 1;65(21):9762-70.
PMID 16266997
 

Citation

This paper should be referenced as such :
Thysen, S ; Lories, R
FRZB (frizzled-related protein)
Atlas Genet Cytogenet Oncol Haematol. 2013;17(1):8-11.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/FRZBID44457ch2q32.html


External links

Nomenclature
HGNC (Hugo)FRZB   3959
Cards
AtlasFRZBID44457ch2q32
Entrez_Gene (NCBI)FRZB  2487  frizzled-related protein
AliasesFRE; FRITZ; FRP-3; FRZB-1; 
FRZB-PEN; FRZB1; FZRB; OS1; SFRP3; SRFP3; hFIZ
GeneCards (Weizmann)FRZB
Ensembl hg19 (Hinxton)ENSG00000162998 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162998 [Gene_View]  chr2:182833276-182866770 [Contig_View]  FRZB [Vega]
ICGC DataPortalENSG00000162998
TCGA cBioPortalFRZB
AceView (NCBI)FRZB
Genatlas (Paris)FRZB
WikiGenes2487
SOURCE (Princeton)FRZB
Genetics Home Reference (NIH)FRZB
Genomic and cartography
GoldenPath hg38 (UCSC)FRZB  -     chr2:182833276-182866770 -  2q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FRZB  -     2q32.1   [Description]    (hg19-Feb_2009)
EnsemblFRZB - 2q32.1 [CytoView hg19]  FRZB - 2q32.1 [CytoView hg38]
Mapping of homologs : NCBIFRZB [Mapview hg19]  FRZB [Mapview hg38]
OMIM165720   605083   
Gene and transcription
Genbank (Entrez)AK130009 AK312741 AU117730 BC027855 BE549700
RefSeq transcript (Entrez)NM_001463
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FRZB
Cluster EST : UnigeneHs.128453 [ NCBI ]
CGAP (NCI)Hs.128453
Alternative Splicing GalleryENSG00000162998
Gene ExpressionFRZB [ NCBI-GEO ]   FRZB [ EBI - ARRAY_EXPRESS ]   FRZB [ SEEK ]   FRZB [ MEM ]
Gene Expression Viewer (FireBrowse)FRZB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2487
GTEX Portal (Tissue expression)FRZB
Human Protein AtlasENSG00000162998-FRZB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92765   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92765  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92765
Splice isoforms : SwissVarQ92765
PhosPhoSitePlusQ92765
Domaine pattern : Prosite (Expaxy)FZ (PS50038)    NTR (PS50189)   
Domains : Interpro (EBI)Frizzled/SFRP    Frizzled_dom    Netrin_domain    Netrin_module_non-TIMP    SFRP3    TIMP-like_OB-fold   
Domain families : Pfam (Sanger)Fz (PF01392)    NTR (PF01759)   
Domain families : Pfam (NCBI)pfam01392    pfam01759   
Domain families : Smart (EMBL)C345C (SM00643)  FRI (SM00063)  
Conserved Domain (NCBI)FRZB
DMDM Disease mutations2487
Blocks (Seattle)FRZB
SuperfamilyQ92765
Human Protein Atlas [tissue]ENSG00000162998-FRZB [tissue]
Peptide AtlasQ92765
HPRD07282
IPIIPI00294650   
Protein Interaction databases
DIP (DOE-UCLA)Q92765
IntAct (EBI)Q92765
FunCoupENSG00000162998
BioGRIDFRZB
STRING (EMBL)FRZB
ZODIACFRZB
Ontologies - Pathways
QuickGOQ92765
Ontology : AmiGOskeletal system development  extracellular space  extracellular space  negative regulation of cell proliferation  negative regulation of cell development  neural crest cell differentiation  membrane  Wnt signaling pathway  Wnt-protein binding  Wnt-protein binding  negative regulation of Wnt signaling pathway  negative regulation of Wnt signaling pathway  negative regulation of Wnt signaling pathway  negative regulation of cell growth  positive regulation of apoptotic process  positive regulation of fat cell differentiation  convergent extension involved in organogenesis  negative regulation of cartilage development  somite development  negative regulation of hepatocyte differentiation  negative regulation of canonical Wnt signaling pathway  cochlea morphogenesis  
Ontology : EGO-EBIskeletal system development  extracellular space  extracellular space  negative regulation of cell proliferation  negative regulation of cell development  neural crest cell differentiation  membrane  Wnt signaling pathway  Wnt-protein binding  Wnt-protein binding  negative regulation of Wnt signaling pathway  negative regulation of Wnt signaling pathway  negative regulation of Wnt signaling pathway  negative regulation of cell growth  positive regulation of apoptotic process  positive regulation of fat cell differentiation  convergent extension involved in organogenesis  negative regulation of cartilage development  somite development  negative regulation of hepatocyte differentiation  negative regulation of canonical Wnt signaling pathway  cochlea morphogenesis  
NDEx NetworkFRZB
Atlas of Cancer Signalling NetworkFRZB
Wikipedia pathwaysFRZB
Orthology - Evolution
OrthoDB2487
GeneTree (enSembl)ENSG00000162998
Phylogenetic Trees/Animal Genes : TreeFamFRZB
HOVERGENQ92765
HOGENOMQ92765
Homologs : HomoloGeneFRZB
Homology/Alignments : Family Browser (UCSC)FRZB
Gene fusions - Rearrangements
Tumor Fusion PortalFRZB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFRZB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FRZB
dbVarFRZB
ClinVarFRZB
1000_GenomesFRZB 
Exome Variant ServerFRZB
ExAC (Exome Aggregation Consortium)ENSG00000162998
GNOMAD BrowserENSG00000162998
Genetic variants : HAPMAP2487
Genomic Variants (DGV)FRZB [DGVbeta]
DECIPHERFRZB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFRZB 
Mutations
ICGC Data PortalFRZB 
TCGA Data PortalFRZB 
Broad Tumor PortalFRZB
OASIS PortalFRZB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFRZB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFRZB
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 FRZB
DgiDB (Drug Gene Interaction Database)FRZB
DoCM (Curated mutations)FRZB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FRZB (select a term)
intoGenFRZB
NCG5 (London)FRZB
Cancer3DFRZB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM165720    605083   
Orphanet
DisGeNETFRZB
MedgenFRZB
Genetic Testing Registry FRZB
NextProtQ92765 [Medical]
TSGene2487
GENETestsFRZB
Target ValidationFRZB
Huge Navigator FRZB [HugePedia]
snp3D : Map Gene to Disease2487
BioCentury BCIQFRZB
ClinGenFRZB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2487
Chemical/Pharm GKB GenePA28377
Clinical trialFRZB
Miscellaneous
canSAR (ICR)FRZB (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFRZB
EVEXFRZB
GoPubMedFRZB
iHOPFRZB
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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