TFE3--ASPL

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:

TFE3 ASPL

COSMIC

The fusion gene pair TFE3--ASPL information is not available in COSMIC database.

ChimerKB

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The fusion gene pair TFE3--ASPL information is not available in CHIMERKB (CHIMERDB 3.0) database.

ChimerPUB

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The fusion gene pair TFE3--ASPL information is available in CHIMERPUB (CHIMERDB 3.0) database.

Fusion_pairTranslocationPMIDDiseaseValidationGene TypeSentence_highlight
TFE3_ASPL- 26975036renal cell carcinoma;alveolar soft part sarcoma;sarcoma FISH - Furthermore, among neoplasms with the SFPQ-TFE3, NONO-TFE3, DVL2-TFE3, and ASPL-TFE3 gene fusions, the RCCs are almost always PAX8 positive, cathepsin K negative by immunohistochemistry, whereas the mesenchymal counterparts (Xp11 translocation PEComas, melanotic Xp11 translocation renal cancers, and alveolar soft part sarcoma) are PAX8 negative, cathepsin K positive.
TFE3_ASPL- 20512480chordoma FISH;PCR;RT-PCR - PAX3-FKHR, ASPL-TFE3, or SYT-SSX gene fusions were not demonstrable (n = 52). /// "Furthermore, tumors were screened for gene fusions (PAX3-FKHR, ASPL-TFE3, and SYT-SSX) previously shown to be associated with MET activation in sarcomas. " /// "fluorescence in situ hybridization (FISH) with a dual-color DNA probe (7q31) for MET amplification was performed on TMA sections and RT-PCR for PAX3-FKHR, ASPL-TFE3 (type 1 + 2), and SYT-SSX (type 1 + 2) gene fusions on punch biopsies. "
TFE3_ASPL- 22523215renal cell carcinoma FISH - With fluorescence in situ hybridization and polymerase chain reaction, only 2 cases showed alterations of the X chromosome and the ASPL-TFE3 gene fusion, respectively.
TFE3_ASPLp11.2;q25 / 11438465renal cell carcinoma;alveolar soft part sarcoma;sarcoma FISH - Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents.. /// "A relationship between these renal tumors and ASPS was initially suggested by the cytogenetic finding of a balanced t(X;17)(p11.2;q25) in two of the cases, and the ASPL-TFE3 fusion transcripts were then confirmed by reverse transcriptase-polymerase chain reaction. " /// "We describe herein eight morphologically distinctive renal tumors occurring in young people that bear the identical ASPL-TFE3 fusion transcript as ASPS, with the distinction that the t(X;17) translocation is cytogenetically balanced in these renal tumors. " /// "The morphology of these eight ASPL-TFE3 fusion-positive renal tumors, although overlapping in some aspects that of classic ASPS, more closely resembles renal cell carcinoma (RCC), which was the a priori diagnosis in all cases. "
TFE3_ASPLp11.2;q25 / 24493828alveolar soft part sarcoma;sarcoma FISH - FISH was performed to validate the presence of the t(X;17)(p11.2;q25) ASPL-TFE3 fusion and, hence, confirm the aCGH observations. /// FISH analysis identified the ASPL-TFE3 fusion in all cases.
TFE3_ASPLp11;q25 / p11.2;q25 / 11244503renal cell carcinoma;alveolar soft part sarcoma;sarcoma FISH;PCR - Using appropriate primers, the reciprocal fusion transcript, TFE3-ASPL, was detected in only one of 12 cases, consistent with the non-reciprocal nature of the translocation in most cases, and supporting ASPL-TFE3 as its oncogenically significant fusion product. /// "Reverse transcriptase PCR using a forward primer from ASPL and a TFE3 exon 4 reverse primer detected an ASPL-TFE3 fusion transcript in all ASPS cases (12/12: 9 type 1, 3 type 2), establishing the utility of this assay in the diagnosis of ASPS. " /// "The ASPL-TFE3 fusion replaces the N-terminal portion of TFE3 by the fused ASPL sequences, while retaining the TFE3 DNA-binding domain, implicating transcriptional deregulation in the pathogenesis of this tumor, consistent with the biology of several other translocation-associated sarcomas. "
TFE3_ASPL- 25984679renal cell carcinoma FISH;PCR - Importantly, reverse transcriptase-PCR showed concordant results with the results of FISH assay in the 8 available frozen cases.The break-apart and ASPL-TFE3 dual-fusion FISH assay can accurately detect the translocation of the TFE3 gene and ASPL-TFE3 fusion gene and can thus serve as a valid complementary method for diagnosing Xp11.2 tRCC and ASPL-TFE3 RCC.. /// Newly designed break-apart and ASPL-TFE3 dual-fusion FISH assay are useful in diagnosing Xp11.2 translocation renal cell carcinoma and ASPL-TFE3 renal cell carcinoma: a STARD-compliant article.. /// "To improve the accuracy of diagnosis of Xp11.2 tRCC and ASPL-TFE3 renal cell carcinoma (RCC), we investigated newly designed fluorescence in situ hybridization (FISH) probes (diagnostic accuracy study).Based on the genetic characteristics of Xp11.2 tRCC and the ASPL-TFE3 RCC, a new break-apart TFE3 FISH probe and an ASPL-TFE3 dual-fusion FISH probe were designed and applied to 65 patients with RCC who were <45 years old or showed suspicious microscopic features of Xp11.2 tRCC in our hospital. " /// "Twenty-two cases were confirmed as Xp11.2 tRCC by break-apart TFE3 FISH, and 6 of these cases were further diagnosed as ASPL-TFE3 RCC by ASPL-TFE3 dual-fusion FISH detection. "
TFE3_ASPL- 23224603perivascular epithelioid cell tumors FISH;PCR;RT-PCR - Reverse transcriptase-polymerase chain reactions (RT-PCR) for ASPL/TFE3, PRCC/TFE3, CLTC/TFE3, PSF/TFE3, and NonO/TFE3 gene fusions all revealed negative results.
TFE3_ASPLt(13;17) (p11;q11) / p11;q25 / 15138551renal cell carcinoma FISH;PCR;RT-PCR - Establishment and characterization of a renal cell carcinoma cell line (FU-UR-1) with the reciprocal ASPL-TFE3 fusion transcript.. /// "Reverse transcriptase-polymerase chain reaction (RT-PCR) and sequence analysis demonstrated reciprocal ASPL-TFE3 and TFE3-ASPL fusion transcripts in the retroperitoneal tumor, cultured FU-UR-1 cells and xenografted tumors. " /// This well-examined cell line may become a useful system for studying the genetic and biologic characteristics of rare neoplasms with the reciprocal ASPL-TFE3 fusion transcript..
TFE3_ASPLp11.2;q25 / 17149613renal cell carcinoma - - Pediatric renal cell carcinoma (RCC) associated with ASPL-TFE3 gene fusion resulting from balanced translocation, t(X;17)(p11.2;q25), is a distinctive tumor entity. /// "Final diagnosis is established based on the characteristic microscopic features, strong nuclear TFE-3 immunoreactivity, and the presence of type 1 TFE3-ASPL fusion gene detected by reverse transcriptasepolymerase chain reactions. "
TFE3_ASPLt(6;11)(p21;q12) / p11;q21 / p11;q25 / p11;q23 / 19396149renal cell carcinoma - - three cases t(X;1)(p11;p34) resulting in a PSF-TFE3 gene fusion, one t(X;17)(p11;q25) resulting in an ASPL-TFE3 gene fusion, and one t(X;3)(p11;q23) with an unknown TFE3 gene fusion.
TFE3_ASPLp11;q25 / 19380023alveolar soft part sarcoma;sarcoma PCR;RT-PCR - It is now clear that they are caused by a specific unbalanced translocation, der(17)t(X;17)(p11;q25), which results in the formation of an ASPSCR1-TFE3 (alias ASPL-TFE3) fusion gene.
TFE3_ASPLp11;q25 / 19384069alveolar soft part sarcoma - - It is associated with a specific unbalanced translocation, der(17)t(X;17)(p11;q25) that results in the formation of an ASPL-TFE3 fusion gene. /// "Molecular genetic study revealed fusion transcript ASPL-TFE3, type 2. "
TFE3_ASPLp11.2;q25 / 18382356alveolar soft part sarcoma PCR;RT-PCR - A specific chromosomal translocation, t(X;17)(p11.2;q25), results in the ASPL-TFE3 fusion gene: it is detectable using reverse-transcription polymerase chain reaction (RT-PCR) in frozen tumor tissues of ASPS. /// "Here, we report the first systematic study applying TFE3 immunoassay and ASPL-TFE3 fusion transcript detection to archival paraffin-embedded tissues in a large Chinese ASPS patient population. " /// No expression of ASPL-TFE3 fusion transcripts was detectable in all 38 control tumors. /// Alveolar soft part sarcoma: a bimarker diagnostic strategy using TFE3 immunoassay and ASPL-TFE3 fusion transcripts in paraffin-embedded tumor tissues.. /// "Of these 11, 7 were type 1 ASPL-TFE3 and 4 were type 2 ASPL-TFE3, including the tumor located in the renal hilum. " /// "Our results demonstrate that the ""bimarker strategy,"" a combination of TFE3 immunostaining and ASPL-TFE3 chimeric transcript detection, might have sufficient sensitivity and specificity in diagnosing most of the ASPSs. " /// "Using a strategy of RT-PCR, followed by a nested PCR with a different primer set, we were able to detect the expression of the chimeric ASPL-TFE3 mRNA in 11 of the 16 ASPS tumors. "
TFE3_ASPL- 24681737alveolar soft part sarcoma;sarcoma - - A reciprocal translocation for ASPL-TFE3 gene fusion, frequently detected in ~90% of cases, combined with TFE3 protein immunoexpression are highly sensitive and specific methods for diagnostic confirmation. /// The current report describes a unique case of vulvovaginal alveolar soft part sarcoma showing the classic morphologic features with documentation of TFE3 protein expression and the ASPL-TFE3 gene rearrangement. /// ASPL-TFE3 translocation in vulvovaginal alveolar soft part sarcoma..
TFE3_ASPL- 19228722renal cell carcinoma - - Of the four Xp11 translocation RCC patients whose karyotypes were determined, two had an ASPL-TFE3 gene fusion.
TFE3_ASPL- 15992428- - - We report the case of a 58-year old patient, showing a solid image in the right kidney, who underwent radical nephrectomy that revealed neoplasia, whose pathological study led to the diagnosis of kidney carcinoma associated with Xp11.2 translocation / TFE3 (ASPL-TFE3) gene fusion. /// Kidney carcinoma associated with Xp11.2 translocation / TFE3 (ASPL-TFE3) gene fusion..
TFE3_ASPL- 15316311renal cell carcinoma - - This classification includes the recently described renal cell carcinomas with the ASPL-TFE3 gene fusion and carcinomas with a PRCC-TFE3 gene fusion.
TFE3_ASPL- 20073616renal cell carcinoma;alveolar soft part sarcoma;sarcoma - - These include a distinctive RCC that bears a translocation with the identical chromosomal breakpoints (Xp11.2, 17q25) and identical resulting ASPL-TFE3 gene fusion as alveolar soft part sarcoma.
TFE3_ASPL- 21070573renal cell carcinoma PCR;RT-PCR - RT-PCR technique was performed for ASPL-TFE3 gene fusion on two tumours with available frozen tissue. /// Two tumors with ASPL-TFE3 gene fusion also showed TFE3 over-expression.
TFE3_ASPLp11.2;q25 / 15634444granular cell tumors;neuroectodermal tumor PCR;RT-PCR - [Detection of ASPL-TFE3 fusion gene by reverse transcriptase polymerase chain reaction in paraffin-embedded tumor tissues of alveolar soft part sarcoma].. /// ASPL-TFE3 fusion transcripts were analyzed in all samples by reverse transcriptase-polymerase chain reaction (RT-PCR). /// ASPL-TFE3 fusion transcripts were detected in 6 of the 8 ASPS cases (4 being type 2 and 2 being type 1). /// The expression of ASPL-TFE3 fusion transcripts in paraffin-embedded tumor tissues can serve as an useful molecular marker in the diagnosis of ASPS. /// The remaining 2 cases were negative for both beta-actin and ASPL-TFE3. /// No ASPL-TFE3 mRNA expression was detected in all the controls.
TFE3_ASPL- 21519815alveolar soft part sarcoma;sarcoma PCR;RT-PCR - In addition, the present case demonstrated strong positive nuclear staining for TFE3, and ASPL-TFE3 fusion gene type 1 was detected by RT-PCR. /// "The participation of the ASPL-TFE3 chimeric gene, translocation (X. "
TFE3_ASPLp11;q25 / 23226201- - - Gene expression data, collected from ASPS tumors of seven different patients and from one immortalized ASPS cell line (ASPS-1), was analyzed jointly with patient ASPL-TFE3 (t(X;17)(p11;q25)) fusion transcript data to identify disease-specific pathways and their component genes. /// The concordance between expression measures derived from ASPS-1 and both pooled and individual patient tumor data provided a rationale for extending the analysis to include patient ASPL-TFE3 fusion transcript data. /// Bioinformatic analysis of patient-derived ASPS gene expressions and ASPL-TFE3 fusion transcript levels identify potential therapeutic targets..
TFE3_ASPLt(6;11) / 20952280renal cell carcinoma - - The smaller contralateral tumor was focally HMB45 positive and had unusual histomorphology, including features resembling clear renal cell carcinoma with features of both t(6;11)- and t(X;17)/ASPL-TFE3 carcinomas.
TFE3_ASPLp11.2;q25 / 19539846alveolar soft part sarcoma;sarcoma - - The molecular study identified a type 2 alveolar soft part locus-transcription factor E3 (ASPL-TFE3) fusion, secondary to der(17)t(X;17)(p11.2;q25) translocation.
TFE3_ASPLp11.2;q23 / 12917640anaplastic large cell lymphoma;adenocarcinoma;lymphoma - - 2 translocations and resulting TFE3 gene fusions (PRCC-TFE3, PSF-TFE3, NONO-TFE3, ASPL-TFE3), encoding related aberrant transcription factors. /// "The present renal tumor demonstrated morphologic and immunohistochemical features of both PRCC-TFE3 and ASPL-TFE3 carcinomas, including strong nuclear immunoreactivity for the TFE3 C-terminal and only minimal expression of epithelial proteins. "
TFE3_ASPL- 23760492renal cell carcinoma FISH;PCR;RT-PCR - They showed strong nuclear staining for TFE3 in immunohistochemistry, TFE3 gene rearrangement in dual-color, break-apart FISH analysis and ASPL-TFE3 type 1 fusion transcripts detected by RT-PCR and direct DNA sequencing. /// Establishment of an ASPL-TFE3 renal cell carcinoma cell line (S-TFE)..
TFE3_ASPL- 12766578alveolar soft part sarcoma;alveolar soft part sarcoma;sarcoma - - We performed immunohistochemistry using a polyclonal antibody to the C-terminal portion of TFE3 in 40 formalin-fixed, paraffin-embedded tumors characterized by TFE3 gene fusions, including 19 alveolar soft part sarcoma (of which nine were molecularly confirmed) and 21 renal carcinomas with cytogenetically confirmed characteristic Xp11.2 translocations and/or fusion transcripts involving TFE3 (11 PRCC-TFE3, 7 ASPL-TFE3, 3 PSF-TFE3).
TFE3_ASPLp11.2;q21 / p11.2;q25 / 12459622renal cell carcinoma - - The differential diagnosis includes conventional-type papillary renal cell carcinoma, conventional-type (clear cell) renal carcinoma, and the ASPL-TFE3 renal carcinomas associated with the t(X;17)(p11.2;q25), with the latter two being morphologically the most similar to the t(X;1) renal carcinomas.
TFE3_ASPL- 23871289alveolar soft part sarcoma;sarcoma FISH;PCR;RT-PCR - mTORC1 activity seems to be related to the existence of ASPL-TFE3 fusion transcripts because TFE3-immunoreactive non-ASPS without ASPL-TFE3 fusion transcripts exhibit significantly lower mTORC1 activation status.
TFE3_ASPL- 15500711leiomyosarcoma PCR;RT-PCR - Of the fourteen cases of ASPS, ten expressed ASPL-TFE3 fusion transcript.
TFE3_ASPL- 18714394sarcoma - - Halofuginone, an inhibitor of myofibroblasts' activation and Smad3 phosphorylation, inhibited tumor development in xenografts derived from renal carcinoma cells harboring a reciprocal ASPL-TFE3 fusion transcript.
TFE3_ASPL- 19472090alveolar soft part sarcoma;sarcoma - - The presence of ASPL-TFE3 fusion transcripts was assessed by reverse transcriptase polymerase chain reaction. /// "The high expression of MET in ASPL-TFE3 (+) ASPS may further support the potential role of targeted agents against MET in this rare, chemoresistant tumor.. "
TFE3_ASPLp11;q25 / 12769020alveolar soft part sarcoma;sarcoma PCR - We report yet another case with reciprocal translocation between chromosomes 17q25 and Xp11 with TFE3/ASPL fusion product who presented with metastatic disease.
TFE3_ASPLt(9;11) / 16575003Hurler's syndrome - - At the molecular level, three tumors contained the ASPL-TFE3 fusion, two contained Alpha-TFEB, and one contained PRCC-TFE3.
TFE3_ASPLp11.2;q25 / 17001165sarcoma - - The ASPL-TFE3 fusion protein encoded by the fusion transcript can be detected immunohistochemically with commercially available antibodies to the carboxy terminus of TFE3.
TFE3_ASPL- 18594808alveolar soft part sarcoma;sarcoma - - This is the first case of alveolar soft part sarcoma in bone documenting the ASPL-TFE3 gene product. /// Primary alveolar soft part sarcoma of fibula demonstrating ASPL-TFE3 fusion: a case report and review of the literature..
TFE3_ASPLp11;q25 / 18176180alveolar soft part sarcoma;sarcoma - - The specificity of the affinity purified antibodies for the synthetic peptides and recombinant expressed ASPL-TFE3 type 1 and ASPL-TFE3 type 2 proteins was evaluated by enzyme-linked immunosorbent assay and was highly fusion type specific. /// "In this study, polyclonal antibodies were generated to 25 mer peptides encompassing the junctional regions of ASPL-TFE3 type 1 and ASPL-TFE3 type 2. " /// Immunohistochemical discrimination between the ASPL-TFE3 fusion proteins of alveolar soft part sarcoma..

ChimerSEQ

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The fusion gene pair TFE3--ASPL information is not available in CHIMERSEQ (CHIMERDB 3.0) database.

ChiTaRS 2.1

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The fusion gene pair TFE3--ASPL information is not available in CHITARS database.

FARE-CAFE

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The fusion gene pair TFE3--ASPL information is not available in FARE-CAFE.

TicDB

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The fusion gene pair TFE3--ASPL information is not available in TicDB.

TUMOR FUSION Gene Data Portal

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The fusion gene pair TFE3--ASPL information is not available in TUMOR FUSION Gene Data Portal.

FusionCancer

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The fusion gene pair TFE3--ASPL information is not available in FusionCancer Database.

ConjoinG

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The fusion gene pair TFE3--ASPL information is not available in ConjoinG Database.

1000Genome

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Fusion gene TFE3--ASPL 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 TFE3--ASPL 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 TFE3--ASPL 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 TFE3--ASPL 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 TFE3--ASPL 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 TFE3--ASPL information is not available in Babiceanu_Dataset.

Banned_Dataset

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Fusion gene TFE3--ASPL 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 TFE3--ASPL has 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. 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 TFE3 is a known oncogene according to ONGENE database.


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

Bushman Cancer Gene Database

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The head gene TFE3 is cancer associated according to Bushman Cancer Gene database.


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

Tumor Gene Set By Uniprot

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The head gene TFE3 is proto-oncogene or tumor suppresor gene according to Uniprot database.
The tail gene ASPL is not a proto-oncogene or tumor suppresor gene according to Uniprot database.

Oesophagus_Dataset

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Fusion gene TFE3--ASPL is not found in oesophageal tumors from TCGA samples, which are published here.

Gliomas_Dataset

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Fusion gene TFE3--ASPL is not found in the RNA-seq dataset of 272 glioblastomas, published here.

Prostate_Dataset

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The fusion gene pair TFE3--ASPL 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 TFE3--ASPL is not found in pancreatic tumor dataset, published here.

GTEx

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Fusion gene TFE3--ASPL 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 TFE3--ASPL information is not available in Klijn Dataset.

Fimereli_Dataset

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The fusion gene pair TFE3--ASPL information is not found in Fimereli_Dataset.

Literature

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The fusion gene pair TFE3--ASPL is found in known fusion genelist compiled from literature.

FusionGeneArticleLink
TFE3--ASPLEmerging roles and regulation of MiT/TFE transcriptional factorshttps://doi.org/10.1186/s12964-018-0242-1

Cortex_Dataset

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Fusion gene TFE3--ASPL 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 TFE3--ASPL information is not available in ChromothripsisDB database.