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SET (SET nuclear oncogene)

Written2005-08Sabine Strehl
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria
Updated2013-05Rebeca Manso-Alonso
Pathology Department, Translational Oncology Division, IIS Fundacion Jimenez Diaz, E-28040 Madrid, Spain

(Note : for Links provided by Atlas : click)

Identity

Other namesPHAPII
2PP2A
IPP2A2
IGAAD
TAF-I
I2PP2A
TAF-IBETA
HGNC (Hugo) SET
LocusID (NCBI) 6418
Atlas_Id 42272
Location 9q34.11  [Link to chromosome band 9q34]
Location_base_pair Starts at 131445934 and ends at 131458675 bp from pter ( according to hg19-Feb_2009)  [Mapping SET.png]
Local_order From centromere to telomere: SET, ABL1, NUP214 (alias CAN), NOTCH1 (alias TAN1).
Fusion genes
(updated 2016)
ANP32B (9q22.33) / SET (9q34.11)BCR (22q11.23) / SET (9q34.11)CDH4 (20q13.33) / SET (9q34.11)
FUS (16p11.2) / SET (9q34.11)GRAMD4 (22q13.31) / SET (9q34.11)MUC3A (7q22.1) / SET (9q34.11)
NPTN (15q24.1) / SET (9q34.11)NUP214 (9q34.13) / SET (9q34.11)NUP98 (11p15.4) / SET (9q34.11)
NUPL2 (7p15.3) / SET (9q34.11)PRKCH (14q23.1) / SET (9q34.11)PROSC (8p11.23) / SET (9q34.11)
PRRC2B (9q34.13) / SET (9q34.11)SET (9q34.11) / ANP32E (1q21.2)SET (9q34.11) / MST1R (3p21.31)
SET (9q34.11) / NUP214 (9q34.13)SET (9q34.11) / RPS3 (11q13.4)SNHG6 (8q13.1) / SET (9q34.11)

DNA/RNA

Description The SET gene spans 6.81 kb on the genomic DNA. The gene includes 8 exons.
Transcription There are four transcript variants: 2863 bp (variant a); 2936 bp (variant b); 2638 bp (variant c); 2562 bp (variant d).

Protein

Description The SET protein is a potent endogenous inhibitor of protein phosphatase 2A (PP2A) that encodes three alternative isoforms; isoform 1 (TAF1 alpha)-290 amino acids, 33.5 kDa; isoform 2 (TAF1 beta) - 277 amino acids, 32 kDa ; isoform 3 - 265 amino acids, 31 kDa.
Expression SET is expressed in a wide variety of tissues such as liver, kidney, pancreas, lung, uterus, muscle, brain, bladder and cochlea. Additionally, SET is overexpressed in numerous cancer types such as AUL (von Lindern et al., 1992), Wilms' tumor (Carlson et al., 1998), T-ALL (Quentmeier et al., 2009), B-CLL and B-NHL (Christensen et al., 2011), and AML (Cristóbal et al., 2012).
Localisation SET localizes predominantly in the nucleus; in the cytoplasm, it is found both in the cytosol and associated with the endoplasmic reticulum and with plasmatic membrane.
Function SET is a multitasking protein involved in multiple cellular processes.
Role in apoptosis: SET oncogene inhibits the tumor suppressor NM23-H1, a Granzyme A-activated DNase during CTL-Mediated Apoptosis (Fan et al., 2003). Its role in apoptosis depends on the cellular model since while overexpression of SET induces neuronal apoptosis (Madeira et al., 2005), in AML resulted in decreased caspase-dependent apoptosis (Cristóbal et al., 2012).
Role in cell cycle: Overexpression of SET blocks the cell cycle at the G2/M transition in the colorrectal cancer cell line HCT116, inhibiting cyclin B-CDK1 activity in these cells. SET did not inhibit either cyclin A-CDK2 or cyclin E-CDK2 complexes. Moreover, SET and p21Cip1 cooperate in the inhibition of cyclin B-CDK1 activity (Canela et al., 2003).
Role in migration: SET stimulates cell migration in a Rac1-dependent manner. In fact, reduction of SET inhibits Rac1-induced migration, indicating that efficient Rac1 signaling requires membrane recruitment of SET (ten Klooster et al., 2007). A novel peptide antagonist of SET (COG112) inhibits SET association with Rac1 leading to decreased cellular migration and invasion (Switzer et al., 2011).
Role in nucleosome assembly: SET plays a role in MCPH1-mediated chromosome condensation/decondensation. SET inhibits PCAF-mediated acetylation of histones. In addition, SET also inhibits the histone acetyl transferases CREBBP and EP300. Besides, overexpression of SET has also been shown to inhibit demethylation of ectopically methylated DNA resulting in gene silencing (Cervoni et al., 2002).
Role in regulating AP-1 activity: Expression of SET in HEK-293 cells increased levels and DNA binding of c-Jun as well as the transcriptional activity of AP-1 (Al-Murrani et al., 1999).
Role in neuronal development: SET is a negative regulator of neuronal development (Kim et al., 2010) and it is involved in the pathogenesis of primary microcephaly (Leung et al., 2011) and Alzheimer's disease (AD) (Madeira et al., 2005).
Homology Belongs to the nucleosome assembly protein (NAP) family.

Implicated in

Note
Entity t(9;9)(q34;q34) --> SET-NUP214 (alias CAN)
Disease Acute undifferentiated leukemia (AUL); only one case described so far.
Cytogenetics Normal karyotype; may be overlooked.
Hybrid/Mutated Gene 5' SET - 3' NUP214.
Abnormal Protein The SET-NUP214 (alias CAN) fusion protein consists of almost the whole SET protein fused to the C-terminus of NUP214.
Oncogenesis SET-NUP214 leads to disorganization of nuclear export.
  
Entity Chronic and acute leukemias
Oncogenesis Acute leukemias are very heterogeneous clonal diseases that disrupt normal hematopoiesis. SET is a reported oncoprotein with a preferentially nuclear location that has been shown to be fused to a putative oncoprotein, CAN/NUP214, in different types of leukemias. The SET-NUP214 (alias CAN) fusion protein consist of almost the whole SET protein fused to the C-terminus of NUP214 (5' SET - 3' NUP214). The fusion gene SET-NUP214 has been reported so far in a patient with acute undifferentiated leukemia (AUL) and normal karyotipe, in T-cell acute lymphoblastic leukemia (T-ALL) (von Lindern et al., 1992) and in one case of acute myeloid leukemia (AML) (Quentmeier et al., 2009; Chae et al., 2012). Functionally, it could promote an elevated expression of HOXA cluster genes in T-ALL. A pharmacologic SET antagonist (FTY720) has been found to induce apoptosis in T-ALL cells (Don et al., 2007; Wallington-Beddoe et al., 2011). Furthermore, overexpression of SET in AML promoted cell growth and resulted in decreased caspase-dependent apoptosis (Cristóbal I et al., 2012). Moreover, SET expression is elevated in B-cell chronic lymphocytic leukemia (CLL), and a SET antagonist peptide (COG449) has been reported to induce apoptosis in primary CLL cells (Christensen et al., 2011).
  
Entity B-cell non-Hodgkin lymphoma (NHL)
Oncogenesis SET is significantly overexpressed in NHL cells relative to normal B cells (Christensen et al., 2011).
  
Entity Wilms' tumor
Oncogenesis High SET levels has been observed in Wilms' tumor, but not in renal cell carcinoma, adult polycystic kidney disease or transitional cell carcinoma (Carlson et al., 1998).
  
Entity Alzheimer's disease (AD)
Oncogenesis SET protein specifically binds Jcasp early after internalization. Downregulation of SET reduces Jcasp-induced cell death, confirming a role of this protein in Jcasp induced apoptosis. However, overexpression of SET induces neuronal apoptosis, independently of Jcasp internalization, which suggests that SET level is crucial for neuronal survival/death (Madeira et al., 2005).
  
Entity Primary microcephaly
Oncogenesis SET functions as a MCPH1-associated protein, negatively regulating chromosome condensation (Leung et al., 2011). SET expression shows variability throughout the cell cycle and is markedly reduced in the G2 phase, which coincides with Cdk1 activation (Brautigan et al., 1990). SET has also been suggested to be a negative regulator of mitotic entry by blocking cyclin B-CDK1 (Canela et al., 2003). Moreover, SET also binds to histones protecting them from acetylation by acetyltransferases, and this function may contribute to the potencial role of SET in regulating chromatin compaction and transcription (Cervoni et al., 2002).
  
Entity Lung cancer
Oncogenesis SET is highly expressed in lung tumors. It has been reported that the FTY720-mediated necroptosis and lung tumor suppression involves SET and the kinase domain of RIPK1 (Saddoughi et al., 2013).
  

To be noted

miR that target SET: hsa-mir-199b has been reported to be underexpressed in choriocarcinoma and targets SET (Chao et al., 2010).

Bibliography

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Adachi Y, Pavlakis GN, Copeland TD.
J Biol Chem. 1994b Jan 21;269(3):2258-62.
PMID 8294483
 
Expression of I2PP2A, an inhibitor of protein phosphatase 2A, induces c-Jun and AP-1 activity.
Al-Murrani SW, Woodgett JR, Damuni Z.
Biochem J. 1999 Jul 15;341 ( Pt 2):293-8.
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Cell cycle oscillation of phosphatase inhibitor-2 in rat fibroblasts coincident with p34cdc2 restriction.
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Nature. 1990 Mar 1;344(6261):74-8.
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The SET protein regulates G2/M transition by modulating cyclin B-cyclin-dependent kinase 1 activity.
Canela N, Rodriguez-Vilarrupla A, Estanyol JM, Diaz C, Pujol MJ, Agell N, Bachs O.
J Biol Chem. 2003 Jan 10;278(2):1158-64. Epub 2002 Oct 28.
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Expression of SET, an inhibitor of protein phosphatase 2A, in renal development and Wilms' tumor.
Carlson SG, Eng E, Kim EG, Perlman EJ, Copeland TD, Ballermann BJ.
J Am Soc Nephrol. 1998 Oct;9(10):1873-80.
PMID 9773788
 
The oncoprotein Set/TAF-1beta, an inhibitor of histone acetyltransferase, inhibits active demethylation of DNA, integrating DNA methylation and transcriptional silencing.
Cervoni N, Detich N, Seo SB, Chakravarti D, Szyf M.
J Biol Chem. 2002 Jul 12;277(28):25026-31. Epub 2002 Apr 26.
PMID 11978794
 
Phenotypic and genetic characterization of adult T-cell acute lymphoblastic leukemia with del(9)(q34);SET-NUP214 rearrangement.
Chae H, Lim J, Kim M, Park J, Kim Y, Han K, Lee S, Min WS.
Ann Hematol. 2012 Feb;91(2):193-201. doi: 10.1007/s00277-011-1289-x. Epub 2011 Jul 1.
PMID 21720744
 
Decreased expression of microRNA-199b increases protein levels of SET (protein phosphatase 2A inhibitor) in human choriocarcinoma.
Chao A, Tsai CL, Wei PC, Hsueh S, Chao AS, Wang CJ, Tsai CN, Lee YS, Wang TH, Lai CH.
Cancer Lett. 2010 May 1;291(1):99-107. doi: 10.1016/j.canlet.2009.10.005. Epub 2009 Nov 8.
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SET oncoprotein overexpression in B-cell chronic lymphocytic leukemia and non-Hodgkin lymphoma: a predictor of aggressive disease and a new treatment target.
Christensen DJ, Chen Y, Oddo J, Matta KM, Neil J, Davis ED, Volkheimer AD, Lanasa MC, Friedman DR, Goodman BK, Gockerman JP, Diehl LF, de Castro CM, Moore JO, Vitek MP, Weinberg JB.
Blood. 2011 Oct 13;118(15):4150-8. doi: 10.1182/blood-2011-04-351072. Epub 2011 Aug 15.
PMID 21844565
 
Overexpression of SET is a recurrent event associated with poor outcome and contributes to protein phosphatase 2A inhibition in acute myeloid leukemia.
Cristobal I, Garcia-Orti L, Cirauqui C, Cortes-Lavaud X, Garcia-Sanchez MA, Calasanz MJ, Odero MD.
Haematologica. 2012 Apr;97(4):543-50. doi: 10.3324/haematol.2011.050542. Epub 2011 Dec 1.
PMID 22133779
 
Essential requirement for sphingosine kinase 2 in a sphingolipid apoptosis pathway activated by FTY720 analogues.
Don AS, Martinez-Lamenca C, Webb WR, Proia RL, Roberts E, Rosen H.
J Biol Chem. 2007 May 25;282(21):15833-42. Epub 2007 Mar 30.
PMID 17400555
 
Tumor suppressor NM23-H1 is a granzyme A-activated DNase during CTL-mediated apoptosis, and the nucleosome assembly protein SET is its inhibitor.
Fan Z, Beresford PJ, Oh DY, Zhang D, Lieberman J.
Cell. 2003 Mar 7;112(5):659-72.
PMID 12628186
 
Effects of SET and SET-CAN on the differentiation of the human promonocytic cell line U937.
Kandilci A, Mientjes E, Grosveld G.
Leukemia. 2004 Feb;18(2):337-40.
PMID 14671643
 
Negative regulation of neuronal cell differentiation by INHAT subunit SET/TAF-Iβ.
Kim DW, Kim KB, Kim JY, Lee KS, Seo SB.
Biochem Biophys Res Commun. 2010 Sep 24;400(3):419-25. doi: 10.1016/j.bbrc.2010.08.093. Epub 2010 Aug 26.
PMID 20800572
 
Accumulation of the SET protein in HEK293T cells and mild oxidative stress: cell survival or death signaling.
Leopoldino AM, Squarize CH, Garcia CB, Almeida LO, Pestana CR, Polizello AC, Uyemura SA, Tajara EH, Gutkind JS, Curti C.
Mol Cell Biochem. 2012 Apr;363(1-2):65-74. doi: 10.1007/s11010-011-1158-x. Epub 2011 Dec 6.
PMID 22143534
 
SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.
Leung JW, Leitch A, Wood JL, Shaw-Smith C, Metcalfe K, Bicknell LS, Jackson AP, Chen J.
J Biol Chem. 2011 Jun 17;286(24):21393-400. doi: 10.1074/jbc.M110.208793. Epub 2011 Apr 22.
PMID 21515671
 
The myeloid leukemia-associated protein SET is a potent inhibitor of protein phosphatase 2A.
Li M, Makkinje A, Damuni Z.
J Biol Chem. 1996 May 10;271(19):11059-62.
PMID 8626647
 
SET protein (TAF1beta, I2PP2A) is involved in neuronal apoptosis induced by an amyloid precursor protein cytoplasmic subdomain.
Madeira A, Pommet JM, Prochiantz A, Allinquant B.
FASEB J. 2005 Nov;19(13):1905-7. Epub 2005 Sep 14.
PMID 16162853
 
Replication factor encoded by a putative oncogene, set, associated with myeloid leukemogenesis.
Nagata K, Kawase H, Handa H, Yano K, Yamasaki M, Ishimi Y, Okuda A, Kikuchi A, Matsumoto K.
Proc Natl Acad Sci U S A. 1995 May 9;92(10):4279-83.
PMID 7753797
 
SET-NUP214 fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines.
Quentmeier H, Schneider B, Rohrs S, Romani J, Zaborski M, Macleod RA, Drexler HG.
J Hematol Oncol. 2009 Jan 23;2:3. doi: 10.1186/1756-8722-2-3.
PMID 19166587
 
Sphingosine analogue drug FTY720 targets I2PP2A/SET and mediates lung tumour suppression via activation of PP2A-RIPK1-dependent necroptosis.
Saddoughi SA, Gencer S, Peterson YK, Ward KE, Mukhopadhyay A, Oaks J, Bielawski J, Szulc ZM, Thomas RJ, Selvam SP, Senkal CE, Garrett-Mayer E, De Palma RM, Fedarovich D, Liu A, Habib AA, Stahelin RV, Perrotti D, Ogretmen B.
EMBO Mol Med. 2013 Jan;5(1):105-21. doi: 10.1002/emmm.201201283. Epub 2012 Nov 25.
PMID 23180565
 
Aberrant intracellular localization of SET-CAN fusion protein, associated with a leukemia, disorganizes nuclear export.
Saito S, Miyaji-Yamaguchi M, Nagata K.
Int J Cancer. 2004 Sep 10;111(4):501-7.
PMID 15239126
 
Targeting SET/I(2)PP2A oncoprotein functions as a multi-pathway strategy for cancer therapy.
Switzer CH, Cheng RY, Vitek TM, Christensen DJ, Wink DA, Vitek MP.
Oncogene. 2011 Jun 2;30(22):2504-13. doi: 10.1038/onc.2010.622. Epub 2011 Feb 7.
PMID 21297667
 
FTY720 produces caspase-independent cell death of acute lymphoblastic leukemia cells.
Wallington-Beddoe CT, Hewson J, Bradstock KF, Bendall LJ.
Autophagy. 2011 Jul;7(7):707-15. Epub 2011 Jul 1.
PMID 21460633
 
Rac1-induced cell migration requires membrane recruitment of the nuclear oncogene SET.
ten Klooster JP, Leeuwen Iv, Scheres N, Anthony EC, Hordijk PL.
EMBO J. 2007 Jan 24;26(2):336-45.
PMID 17245428
 
Can, a putative oncogene associated with myeloid leukemogenesis, may be activated by fusion of its 3' half to different genes: characterization of the set gene.
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Mol Cell Biol. 1992 Aug;12(8):3346-55.
PMID 1630450
 

Citation

This paper should be referenced as such :
Manso-Alonso, R
SET (SET nuclear oncogene)
Atlas Genet Cytogenet Oncol Haematol. 2013;17(12):837-840.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/SETID42272ch9q34.html
History of this paper:
Strehl, S. SET (SET translocation (myeloid leukemia-associated)). Atlas Genet Cytogenet Oncol Haematol. 2005;9(4):317-318.
http://documents.irevues.inist.fr/bitstream/handle/2042/38251/08-2005-SETID42272ch9q34.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  Chronic myelogenous leukaemia (CML)
t(6;9)(p22;q34) DEK/NUP214
t(9;9)(q34;q34) SET/NUP214
t(11;18)(p15;q12) NUP98/SETBP1

External links

Nomenclature
HGNC (Hugo)SET   10760
Cards
AtlasSETID42272ch9q34
Entrez_Gene (NCBI)SET  6418  SET nuclear proto-oncogene
Aliases2PP2A; I2PP2A; IGAAD; IPP2A2; 
PHAPII; TAF-I; TAF-IBETA
GeneCards (Weizmann)SET
Ensembl hg19 (Hinxton)ENSG00000119335 [Gene_View]  chr9:131445934-131458675 [Contig_View]  SET [Vega]
Ensembl hg38 (Hinxton)ENSG00000119335 [Gene_View]  chr9:131445934-131458675 [Contig_View]  SET [Vega]
ICGC DataPortalENSG00000119335
TCGA cBioPortalSET
AceView (NCBI)SET
Genatlas (Paris)SET
WikiGenes6418
SOURCE (Princeton)SET
Genomic and cartography
GoldenPath hg19 (UCSC)SET  -     chr9:131445934-131458675 +  9q34   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SET  -     9q34   [Description]    (hg38-Dec_2013)
EnsemblSET - 9q34 [CytoView hg19]  SET - 9q34 [CytoView hg38]
Mapping of homologs : NCBISET [Mapview hg19]  SET [Mapview hg38]
OMIM600960   
Gene and transcription
Genbank (Entrez)AK223556 AK300609 AK300794 AK311346 AK315313
RefSeq transcript (Entrez)NM_001122821 NM_001248000 NM_001248001 NM_003011
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_030356 NT_008470 NW_004929366
Consensus coding sequences : CCDS (NCBI)SET
Cluster EST : UnigeneHs.436687 [ NCBI ]
CGAP (NCI)Hs.436687
Alternative Splicing GalleryENSG00000119335
Gene ExpressionSET [ NCBI-GEO ]   SET [ EBI - ARRAY_EXPRESS ]   SET [ SEEK ]   SET [ MEM ]
Gene Expression Viewer (FireBrowse)SET [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6418
GTEX Portal (Tissue expression)SET
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01105 (Uniprot)
NextProtQ01105  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01105
Splice isoforms : SwissVarQ01105 (Swissvar)
PhosPhoSitePlusQ01105
Domains : Interpro (EBI)NAP_family   
Domain families : Pfam (Sanger)NAP (PF00956)   
Domain families : Pfam (NCBI)pfam00956   
DMDM Disease mutations6418
Blocks (Seattle)SET
PDB (SRS)2.00E+50   
PDB (PDBSum)2.00E+50   
PDB (IMB)2.00E+50   
PDB (RSDB)2.00E+50   
Structural Biology KnowledgeBase2.00E+50   
SCOP (Structural Classification of Proteins)2.00E+50   
CATH (Classification of proteins structures)2.00E+50   
SuperfamilyQ01105
Human Protein AtlasENSG00000119335
Peptide AtlasQ01105
HPRD09023
IPIIPI00072377   IPI00301311   IPI00844040   IPI00896523   IPI00915958   
Protein Interaction databases
DIP (DOE-UCLA)Q01105
IntAct (EBI)Q01105
FunCoupENSG00000119335
BioGRIDSET
STRING (EMBL)SET
ZODIACSET
Ontologies - Pathways
QuickGOQ01105
Ontology : AmiGODNA binding  protein phosphatase inhibitor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  endoplasmic reticulum  cytosol  DNA replication  nucleosome assembly  nucleosome disassembly  nucleocytoplasmic transport  protein phosphatase type 2A regulator activity  viral process  regulation of protein phosphatase type 2A activity  negative regulation of histone acetylation  histone binding  negative regulation of catalytic activity  protein complex  regulation of mRNA stability  negative regulation of neuron apoptotic process  negative regulation of transcription, DNA-templated  perinuclear region of cytoplasm  
Ontology : EGO-EBIDNA binding  protein phosphatase inhibitor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  endoplasmic reticulum  cytosol  DNA replication  nucleosome assembly  nucleosome disassembly  nucleocytoplasmic transport  protein phosphatase type 2A regulator activity  viral process  regulation of protein phosphatase type 2A activity  negative regulation of histone acetylation  histone binding  negative regulation of catalytic activity  protein complex  regulation of mRNA stability  negative regulation of neuron apoptotic process  negative regulation of transcription, DNA-templated  perinuclear region of cytoplasm  
Pathways : BIOCARTAGranzyme A mediated Apoptosis Pathway [Genes]   
REACTOMEQ01105 [protein]
REACTOME PathwaysR-HSA-2299718 Condensation of Prophase Chromosomes [pathway]
REACTOME PathwaysR-HSA-450520 HuR stabilizes mRNA [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkSET
Wikipedia pathwaysSET
Orthology - Evolution
OrthoDB6418
GeneTree (enSembl)ENSG00000119335
Phylogenetic Trees/Animal Genes : TreeFamSET
Homologs : HomoloGeneSET
Homology/Alignments : Family Browser (UCSC)SET
Gene fusions - Rearrangements
Fusion : MitelmanFUS/SET [16p11.2/9q34.11]  [t(9;16)(q34;p11)]  
Fusion : MitelmanPRRC2B/SET [9q34.13/9q34.11]  [t(9;9)(q34;q34)]  
Fusion : MitelmanSET/NUP214 [9q34.11/9q34.13]  [del(9)(q34)]  [del(9)(q34q34)]  
[t(9;9)(q34;q34)]  
Fusion: TCGAPRRC2B 9q34.13 SET 9q34.11 BRCA
Fusion : TICdbSET [9q34.11]  -  NUP214 [9q34.13]
Polymorphisms : SNP, variants
NCBI Variation ViewerSET [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SET
dbVarSET
ClinVarSET
1000_GenomesSET 
Exome Variant ServerSET
ExAC (Exome Aggregation Consortium)SET (select the gene name)
Genetic variants : HAPMAP6418
Genomic Variants (DGV)SET [DGVbeta]
Mutations
ICGC Data PortalSET 
TCGA Data PortalSET 
Broad Tumor PortalSET
OASIS PortalSET [ Somatic mutations - Copy number]
Cancer Gene: CensusSET 
Somatic Mutations in Cancer : COSMICSET 
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 SET
DgiDB (Drug Gene Interaction Database)SET
DoCM (Curated mutations)SET (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SET (select a term)
intoGenSET
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)9:131445934-131458675  ENSG00000119335
CONAN: Copy Number AnalysisSET 
Mutations and Diseases : HGMDSET
OMIM600960   
MedgenSET
Genetic Testing Registry SET
NextProtQ01105 [Medical]
TSGene6418
GENETestsSET
Huge Navigator SET [HugePedia]
snp3D : Map Gene to Disease6418
BioCentury BCIQSET
ClinGenSET
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6418
Chemical/Pharm GKB GenePA35678
Clinical trialSET
Miscellaneous
canSAR (ICR)SET (select the gene name)
Probes
Litterature
PubMed170 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSET
EVEXSET
GoPubMedSET
iHOPSET
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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