SET--NUP214

Hyperlinks to databases below
COSMIC CHIMERKB CHIMERPUB CHIMERSEQ CHITARS
FARE-CAFE TICDB TUMOR_FUSION_GDPFusionCancerConjoinG
1000Genome18CancersBodymap2HPANon_Tumor_Cells
Babiceanu_DatasetBanned_DatasetKnown_FusionsONGene DatabaseBushman Cancer Gene Database
Tumor Gene Set By UniprotOesophagus_DatasetGliomas_DatasetProstate_DatasetPancreases_Dataset
GTExKlijn_DatasetFimereli_Dataset Literature Cortex_Dataset
ChromothripsisDB

Link to Genecards:

SET NUP214

COSMIC

The fusion gene pair SET--NUP214 information is available in COSMIC database.

Link
SET--NUP214

ChimerKB

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The fusion gene pair SET--NUP214 information is available in CHIMERKB (CHIMERDB 3.0) database.

Fusion_pair5'Gene Junction (Chr/Position/Strand)3'Gene Junction (Chr/Position/Strand)Breakpoint_TypeGenome_BuildDiseaseValidationPMIDGene TypeSource
SET_NUP214-/-/ -/-/ - hg18 lymphoblastic leukemia - - - Mitelman
SET_NUP214-/-/ -/-/ - hg18 acute myelomonocytic leukemia - - - Mitelman
SET_NUP214-/-/ -/-/ - hg18 myeloid leukemogenesis - 1630450 - OMIM

ChimerPUB

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The fusion gene pair SET--NUP214 information is available in CHIMERPUB (CHIMERDB 3.0) database.

Fusion_pairTranslocationPMIDDiseaseValidationGene TypeSentence_highlight
SET_NUP214del(9) / 19166587acute myeloid leukemia;T ALL;myeloid leukemia;leukemia FISH;PCR;RT-PCR - Of 141 human leukemia/lymphoma cell lines tested, only the T-ALL cell line LOUCY and the AML cell line MEGAL expressed the SET(TAF-Ibeta)-NUP214 fusion gene transcript. /// Cell lines LOUCY and MEGAL express the recently described SET-NUP214 fusion gene. /// " SET-NUP214 fusion resulting from a recurrent cryptic deletion, del(9)(q34.11q34.13) has recently been described in T-cell acute lymphoblastic leukemia (T-ALL) and in one case of acute myeloid leukemia (AML). " /// We screened a panel of ALL and AML cell lines for SET-NUP214 expression to find model systems that might help to elucidate the cellular function of this fusion gene. /// The cell lines are promising model systems for SET-NUP214 studies and should facilitate investigating cellular functions of the the SET-NUP214 protein.. /// SET-NUP214 fusion in acute myeloid leukemia- and T-cell acute lymphoblastic leukemia-derived cell lines.. /// Both cell lines expressed the 140 kDa SET-NUP214 fusion protein.
SET_NUP214- 20682390acute myeloid leukemia;myeloid leukemia;leukemia;hematologic malignancy FISH - The SET-NUP214 fusion gene has been rarely reported in acute myeloid leukemia, acute undifferentiated leukemia, and recurrently in T-cell acute lymphoblastic leukemia. /// Molecular characterization of alternative SET-NUP214 fusion transcripts in a case of acute undifferentiated leukemia.. /// "Herein we present a novel case of acute undifferentiated leukemia with SET-NUP214 rearrangement due to the cryptic deletion of the 9q34 region producing two different types of fusion transcripts by alternative splicing and molecular characterization of the fusion transcripts by fluorescence in situ hybridization, reverse transcriptase-polymerase chain reaction, and array comparative genomic hybridization analyses.. "
SET_NUP214del(17)(q12) / del(5)(q35) / del(7)(q34) / del(9)(q34) / del(12)(p13) / del(14)(q11) / 20065082leukemia FISH - The estimated incidence of TAF_I-NUP214, a new recurrent fusion in adult T-cell acute lymphoblastic leukemias, was 4.6% (7/152)..
SET_NUP214- 23210573acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia FISH;PCR - BCR-ABL1, FUS-ERG, MLL-AF4, ETV6-RUNX1, E2A-PBX1, dupMLL, MLL-AF10, MLL-ENL, SET-NUP214 and SIL-TAL1 were detected in 36 (14.06%), 14 (5.47%), 14 (5.47%), four (1.56%), four (1.56%), five (1.95%), four (1.56%), two (0.78%), two (0.78%) and five patients (1.95%), respectively. /// "JAK2 and IKZF1 mutations were commonly detected in patients with BCR-ABL1 ALL, and HOX overexpression was highly correlated with MLL fusions and SET-NUP214. "
SET_NUP214del(9)(q34) / 23114116T ALL FISH;PCR;RT-PCR - It is concluded that SET-NUP214 fusion gene is often resulted from del(9)(q34). /// [Expression of SET-NUP214 fusion gene in patients with T-cell acute lymphoblastic leukemia and its clinical significance].. /// RT-PCR was used to detect the expression of SET-NUP214 fusion gene in 58 T-ALL cases. /// " This study was aimed to investigate the occurrence and clinical significance of the SET-NUP214 fusion gene in patients with T-cell acute lymphoblastic leukemia (T-ALL), analyse clinical and biological characteristics in this disease. " /// The results showed that 6 out of 58 T-ALL cases (10.3%) were detected to have the SET-NUP214 fusion gene by RT-PCR. /// PHF6 and NOTCH1 mutations may be potential leukemogenic event in SET-NUP214 fusion gene.. /// Array-CGH results of 3 SET-NUP214 positive T-ALL patients confirmed that this fusion gene was resulted from a cryptic deletion of 9q34.11q34.13. /// "PHF6 and NOTCH1 gene mutations were found in 4 and 5 out of 6 SET-NUP214 positive T-ALL patients, respectively. "
SET_NUP214- 22169284lymphoblastic leukemia PCR - The purpose of this study was to analyze the gene rearrangement pattern of immunoglobulin and T-cell receptor (Ig/TR) and its clinical characteristics in three children with SET-NUP214 fusion gene positive leukemia/lymphoma. /// The transcript of SET-NUP214 fusion gene was detected by RT-nested PCR. /// [Gene rearrangement pattern of immunoglobulin and T-cell receptor (Ig/TR) and its clinical characteristics in children with SET-NUP214 fusion gene-positive leukemia/lymphoma].. /// It is concluded that the transformation of SET-NUP214(+) leukemia/lymphoma cells may occur after the rearrangements of TRD and TRG and shortly after TRB rearrangement.
SET_NUP214- 24449214acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia - - The SET-NUP214 (TAF1/CAN) fusion gene is a rare genetic event in T-cell acute lymphoblastic leukemia (T-ALL). /// SET-NUP214 is a recurrent ?? lineage-specific fusion transcript associated with corticosteroid/chemotherapy resistance in adult T-ALL.. /// Eleven (6%) of 196 T-ALL patients enrolled in the French Group for Research on Adult Acute Lymphoblastic Leukemia (GRAALL) 2003 and 2005 trials harbored a SET-NUP214 transcript.
SET_NUP214del(9)(q34) / del(12)(p13) / 21720744T ALL - - Phenotypic and genetic characterization of adult T-cell acute lymphoblastic leukemia with del(9)(q34);SET-NUP214 rearrangement.. /// Conventional cytogenetic analysis revealed complex chromosomal aberrations in all four SET-NUP214 rearranged cases and del(12)(p13)/ETV6 was frequently involved. /// SET-NUP214 rearrangement is a recently recognized recurrent chromosomal translocation mostly observed in T-ALL. /// Four cases (10%) of SET-NUP214 translocation were identified in our study. /// "In order to characterize this rare entity, we performed phenotypic and genetic characterization of SET-NUP214 rearrangement through an investigation of a series of 40 consecutive samples of adult T-ALL that was selected among 229 adult ALL cases during 4?years in a single institution. " /// "Our independently derived data set from a single institution confirms previous findings of SET-NUP214 rearrangement, indicates the relatively high incidence of SET-NUP214 rearrangement in adult T-ALLs, and also demonstrates comprehensive clinical, phenotypic, and genetic characteristics of this entity. "
SET_NUP214- 21880637acute myeloid leukemia;myeloid leukemia;leukemia - - Patients were also investigated for NOTCH1, FBXW7, WT1, and JAK1 mutations together with CALM-AF10, SET-NUP214, and SIL-TAL1 gene rearrangements. /// "Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia.. " /// "Overall, these results indicate that, in T-cell acute lymphoblastic leukemia, PHF6 mutations are a recurrent genetic abnormality associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214.. " /// "The molecular genetic markers most frequently associated with PHF6 mutations were NOTCH1 mutations (P=0.003), SET-NUP214 rearrangements (P=0.002), and JAK1 mutations (P=0.005). " /// "NOTCH1 mutations, FBXW7 mutations, WT1 mutations, JAK1 mutations, SIL-TAL1 fusions, SET-NUP214 fusions and CALM-AF10 fusions were present in 44/96 (45.8%), 9/96 (9.4%), 4/96 (4.1%), 3/49 (6.1%), 9/48 (18.8%), 3/48 (6.3%) and 0/48 (0%) of patients, respectively. "
SET_NUP214- 24533689T ALL;leukemia;breast cancer;pancreatic cancer PCR - It was reported that the T-ALL cell lines, ALL-SIL, BE13 and LOUCY, harbored the fusion gene NUP214-ABL1, NUP214-ABL1 and SET-NUP214, respectively.
SET_NUP214- 22095169- PCR;RT-PCR - Detection of SET-NUP214 rearrangement using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) in acute leukemias: a case report and literature review on a Korean case series..
SET_NUP214inv (7)(p15q34) / del (9) / 18299449T ALL - - SET-NUP214 binds in the promoter regions of specific HOXA genes, where it interacts with CRM1 and DOT1L, which may transcriptionally activate specific members of the HOXA cluster. /// We conclude that SET-NUP214 may contribute to the pathogenesis of T-ALL by enforcing T-cell differentiation arrest.. /// "Targeted inhibition of SET-NUP214 by siRNA abolished expression of HOXA genes, inhibited proliferation, and induced differentiation in LOUCY but not in other T-ALL lines. " /// The recurrent SET-NUP214 fusion as a new HOXA activation mechanism in pediatric T-cell acute lymphoblastic leukemia.. /// "This deletion results in a conserved SET-NUP214 fusion product, which was also identified in the T-ALL cell line LOUCY. "
SET_NUP214- 22075511acute myeloid leukemia;T ALL;myeloid leukemia;leukemia - - Using multiplex reverse transcriptase-polymerase chain reaction analysis, we detected a cryptic SET-NUP214 rearrangement in our patient. /// Further studies are necessary to evaluate the incidence of SET-NUP214 rearrangement in T-ALL patients and the treatment responses as well as prognosis of these patients.. /// T-cell acute lymphoblastic leukemia associated with complex karyotype and SET-NUP214 rearrangement: a case study and review of the literature.. /// " SET-NUP214 rearrangements have been rarely reported in T-cell acute lymphoblastic leukemia (T-ALL), acute undifferentiated leukemia, and acute myeloid leukemia, and most documented cases have been associated with normal karyotypes in conventional cytogenetic analyses. " /// "Here, we describe a novel case of T-ALL associated with a mediastinal mass and a SET-NUP214 rearrangement, which was masked by a complex karyotype at the time of initial diagnosis. " /// "As only 11 cases (including the present study) of T-ALL with SET-NUP214 rearrangement have been reported, the clinical features and treatment outcomes have not been fully determined. "

ChimerSEQ

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The fusion gene pair SET--NUP214 information is not available in CHIMERSEQ (CHIMERDB 3.0) database.

ChiTaRS 2.1

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The fusion gene pair SET--NUP214 information is not available in CHITARS database.

FARE-CAFE

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The fusion gene pair SET--NUP214 information is available in FARE-CAFE.

Cancer Information
Fusion_ProteinCancer_TypeFP_Experimental_MethodFP_KaryotypeFP_Reference
SET-NUP214 Acute myeloid leukemia RT-PCR,FISH _ PubMed:17296573

Genomic Information
Fusion_ProteinFusion_Protein_Isoforms5'_ProteinF_B_PFBP_in_Exon/Intron5'_Protein_on_Positive/Negative_Strands3'_ProteinS_B_P3'_Protein_on_Positive/Negative_StrandsSBP_in_Exon/IntronFusion_Protein_mRNA_sequenceFusion_Protein_ReferenceFusion_Protein_GenbankID
SET-NUP214 SET-NUP214-Isoform1 SET 131456495 0 1 NUP214 134029437 1 0 gaattaaggaaatgtttgataagcacatggtactAcgcagaggtgtggttgtatctgaagtgatcaaagg 17296573 _
SET-NUP214 SET-NUP214-Isoform2 SET _ _ 1 NUP214 _ 1 _ ggggaggaaggagaGgaaattcggcgcctt 17296573 _

Domains and DDI Information
Fusion_ProteinFusion_Protein_IsoformsDomains_in_5'PartnerDDIs_for_Domains_in_5'PartnerDomains_in_3'PartnerDDIs_for_Domains_in_3'Partner5'_Protein5'P_Domains5'P_Domains_DDI_partners3'_Protein3'P_Domains3'P_Domains_DDI_partnersMissing_FP_DomainsMissing_FP_Domains_DDI
SET-NUP214 SET-NUP214-Isoform1 1) NAP
1) NAP , KAT11
- -SET 1) NAP
1) NAP , KAT11
NUP214 1) WD40
1) Acetyltransf_10 , CPSF_A , DUF1899 , IRK , ARPC4 , EZH2_WD-Binding , PH , Sec16_C , RGS , Cytochrom_C , G-gamma , eIF2A , Sec16 , Nup96 , Phosducin , MMS1_N , DUF1899 , DUF1900 , CAF1C_H4-bd , DEP , Methyltransf_4 , G-alpha , G-gamma , HELP , Lipase_GDSL_2 , Nucleopor_Nup85 , PI3_PI4_kinase , Ribosomal_S17e , P16-Arc , Mad3_BUB1_II , CPSF_A , HORMA , V-set , WD40 , PRMT5 , Ribosomal_S9
1) WD40
1) Acetyltransf_10 , CPSF_A , DUF1899 , IRK , ARPC4 , EZH2_WD-Binding , PH , Sec16_C , RGS , Cytochrom_C , G-gamma , eIF2A , Sec16 , Nup96 , Phosducin , MMS1_N , DUF1899 , DUF1900 , CAF1C_H4-bd , DEP , Methyltransf_4 , G-alpha , G-gamma , HELP , Lipase_GDSL_2 , Nucleopor_Nup85 , PI3_PI4_kinase , Ribosomal_S17e , P16-Arc , Mad3_BUB1_II , CPSF_A , HORMA , V-set , WD40 , PRMT5 , Ribosomal_S9
SET-NUP214 SET-NUP214-Isoform2 - - - -SET 1) NAP
1) NAP , KAT11
NUP214 1) WD40
1) Acetyltransf_10 , CPSF_A , DUF1899 , IRK , ARPC4 , EZH2_WD-Binding , PH , Sec16_C , RGS , Cytochrom_C , G-gamma , eIF2A , Sec16 , Nup96 , Phosducin , MMS1_N , DUF1899 , DUF1900 , CAF1C_H4-bd , DEP , Methyltransf_4 , G-alpha , G-gamma , HELP , Lipase_GDSL_2 , Nucleopor_Nup85 , PI3_PI4_kinase , Ribosomal_S17e , P16-Arc , Mad3_BUB1_II , CPSF_A , HORMA , V-set , WD40 , PRMT5 , Ribosomal_S9
1) NAP ,
2) WD40
1) NAP , KAT11
2) Acetyltransf_10 , CPSF_A , DUF1899 , IRK , ARPC4 , EZH2_WD-Binding , PH , Sec16_C , RGS , Cytochrom_C , G-gamma , eIF2A , Sec16 , Nup96 , Phosducin , MMS1_N , DUF1899 , DUF1900 , CAF1C_H4-bd , DEP , Methyltransf_4 , G-alpha , G-gamma , HELP , Lipase_GDSL_2 , Nucleopor_Nup85 , PI3_PI4_kinase , Ribosomal_S17e , P16-Arc , Mad3_BUB1_II , CPSF_A , HORMA , V-set , WD40 , PRMT5 , Ribosomal_S9

miRNA Information
Fusion_ProteinmiRNAs_Targets_Fusion_proteinMissing_MiRNAs_Targets_Fusion_proteinFP_miRNA_Validation_method
SET-NUP214 hsa-let-7b-5phsa-miR-193b-3phsa-miR-331-3phsa-miR-328-3phsa-miR-149-5phsa-miR-15b-5phsa-miR-22-3phsa-miR-20a-5p hsa-miR-199b-5phsa-miR-375hsa-miR-122-5phsa-miR-877-3phsa-miR-505-5phsa-miR-296-3phsa-miR-18a-3phsa-miR-484hsa-miR-423-3phsa-miR-378a-5phsa-miR-185-5phsa-miR-100-5phsa-miR-93-5phsa-miR-26a-5phsa-miR-1260b NGS

Transcription Factors Information
Fusion_Protein5'P_Ref_mRNA_seqIDFP_Transcription_factorsFP_Missing_TFsFP_TF_Reference
SET-NUP214 NM_001122821.1 - 1) RB1_HUMAN
2) RBL2_HUMAN
3) ZNF263_HUMAN
4) E2F4_HUMAN
5) RUNX1_HUMAN
6) ETS1_HUMAN
7) EGR1_HUMAN
8) FOS_HUMAN
9) GATA2_HUMAN
10) GATA3_HUMAN
11) TAL1_HUMAN
12) BRG1_HUMAN
13) HNF4A_HUMAN
14) TFAP2C_HUMAN
15) CEBPA_HUMAN
16) CTCF_HUMAN
17) NR1H3_HUMAN
18) SPI1_HUMAN
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TicDB

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The fusion gene pair SET--NUP214 information is available in TICDB.
HeadGeneTailGenePubmedIDSequence
SET NUP214 17296573 gaattaaggaaatgtttgataagcacatggtactAcgcagaggtgtggttgtatctgaagtgatcaaagg
SET NUP214 17296573 ggggaggaaggagaGgaaattcggcgcctt

TUMOR FUSION Gene Data Portal

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The fusion gene pair SET--NUP214 information is not available in TUMOR FUSION Gene Data Portal.

FusionCancer

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The fusion gene pair SET--NUP214 information is not available in FusionCancer Database.

ConjoinG

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The fusion gene pair SET--NUP214 information is not available in ConjoinG Database.

1000Genome

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Fusion gene SET--NUP214 has not been seen in a healthy sample (RNA-seq data from some samples from 1000 genomes project: Greger et al., Tandem RNA Chimeras Contribute to Transcriptome Diversity in Human Population and Are Associated with Intronic Genetic Variants, Plos One, Aug 2014 ). Therefore this candidate fusion gene has a low probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

18Cancers

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Fusion gene SET--NUP214 is not found in a RNA-seq dataset of 18 types of cancers from 600 tumor samples (B. Alaei-Mahabadia et al., Global analysis of somatic structural genomic alterations and their impact on gene expression in diverse human cancers, PNAS, Nov. 2016 )

Bodymap2

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Fusion gene SET--NUP214 is not found in the list of known false positive fusion genes. The list has been generated from healthy human samples collected from 16 organs from Illumina BodyMap2 RNA-seq database. A candidate fusion gene found in this list has a very high probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

HPA

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Fusion gene SET--NUP214 is not found in a healthy sample (RNA-seq database of 27 healthy tissues from 95 human individuals). A candidate fusion gene found in this dataset has a very high probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

Non_Tumor_Cells

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Fusion gene SET--NUP214 was not found among the fusion genes which have been previously reported/found in non-tumor cell lines, like for example HEK293. The genes which are observed in those list can be considered as non-somatic mutation. [Fusion gene List compiled from FusionCatcher]

Babiceanu_Dataset

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The fusion gene pair SET--NUP214 information is not available in Babiceanu_Dataset.

Banned_Dataset

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Fusion gene SET--NUP214 is not found in the list of known false positive fusion genes. A candidate fusion gene found in this list has a very high probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

Known_Fusions

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Fusion gene SET--NUP214 has not been found in the list of fusions previously reported or published in scientific articles/reports/books/abstracts/databases, indexed by Google, Google Scholar, PubMed, etc. The list has been manually curated by FusionCatcher software. This label has only the role to answer with YES or NO the question "has ever before a given (candidate) fusion gene been published or reported?". This label does not have in anyway the role to provide the original references to the original scientific articles/reports/books/abstracts/databases for a given fusion gene.[Fusion gene List compiled from FusionCatcher]

ONGene Database

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The head gene SET is a known oncogene according to ONGENE database.


The tail gene NUP214 is a known oncogene according to ONGENE database.

Bushman Cancer Gene Database

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The head gene SET is cancer associated according to Bushman Cancer Gene database.


The tail gene NUP214 is cancer associated according to Bushman Cancer Gene database.

Tumor Gene Set By Uniprot

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The head gene SET is proto-oncogene or tumor suppresor gene according to Uniprot database.


The tail gene NUP214 is proto-oncogene or tumor suppresor gene according to Uniprot database.

Oesophagus_Dataset

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Fusion gene SET--NUP214 is not found in oesophageal tumors from TCGA samples, which are published here.

Gliomas_Dataset

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Fusion gene SET--NUP214 is not found in the RNA-seq dataset of 272 glioblastomas, published here.

Prostate_Dataset

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The fusion gene pair SET--NUP214 information is not available in Prostate Dataset (150 prostate tumor RNAs, Robison et al, Integrative Clinical Genomics of Advanced Prostate Cancer, Cell, Vol. 161, May 2015, http://dx.doi.org/10.1016/j.cell.2015.05.001).

Pancreases_Dataset

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Fusion gene SET--NUP214 is not found in pancreatic tumor dataset, published here.

GTEx

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Fusion gene SET--NUP214 has not been found in a healthy sample (GTEx database of healthy tissues (thru FusionAnnotator)). A candidate fusion gene found in this set has a very high probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

Klijin_Dataset

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The fusion gene pair SET--NUP214 information is not available in Klijn Dataset.

Fimereli_Dataset

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The fusion gene pair SET--NUP214 information is not found in Fimereli_Dataset.

Literature

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The fusion gene pair SET--NUP214 information is not found in known fusion genelist compiled from literature.

Cortex_Dataset

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Fusion gene SET--NUP214 is not found in Cortex_Dataset (Fusion genes found in healthy human brains (BA9 prefrontal cortex)) . A candidate fusion gene found in this dataset has a very high probability of being a false positive.

ChromothripsisDB

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The fusion gene pair SET--NUP214 information is not available in ChromothripsisDB database.