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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:KAZN-MTOR

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: KAZN-MTOR
FusionPDB ID: 41285
FusionGDB2.0 ID: 41285
HgeneTgene
Gene symbol

KAZN

MTOR

Gene ID

23254

2475

Gene namekazrin, periplakin interacting proteinmechanistic target of rapamycin kinase
SynonymsC1orf196|KAZFRAP|FRAP1|FRAP2|RAFT1|RAPT1|SKS
Cytomap

1p36.21

1p36.22

Type of geneprotein-codingprotein-coding
Descriptionkazrinserine/threonine-protein kinase mTORFK506 binding protein 12-rapamycin associated protein 2FK506-binding protein 12-rapamycin complex-associated protein 1FKBP-rapamycin associated proteinFKBP12-rapamycin complex-associated protein 1mammalian target o
Modification date2020031320200329
UniProtAcc

Q674X7

TLDC1

Ensembl transtripts involved in fusion geneENST idsENST00000361144, ENST00000376030, 
ENST00000400797, ENST00000400798, 
ENST00000422387, ENST00000503743, 
ENST00000376838, ENST00000495435, 
ENST00000361445, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score15 X 11 X 8=132012 X 11 X 8=1056
# samples 1819
** MAII scorelog2(18/1320*10)=-2.87446911791614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/1056*10)=-2.47453851102751
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: KAZN [Title/Abstract] AND MTOR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KAZN(15251068)-MTOR(11206848), # samples:3
Anticipated loss of major functional domain due to fusion event.KAZN-MTOR seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
KAZN-MTOR seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
KAZN-MTOR seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
KAZN-MTOR seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneMTOR

GO:0001558

regulation of cell growth

18762023

TgeneMTOR

GO:0001934

positive regulation of protein phosphorylation

20233713

TgeneMTOR

GO:0006468

protein phosphorylation

12150926|15467718|18925875

TgeneMTOR

GO:0009267

cellular response to starvation

28223137

TgeneMTOR

GO:0010507

negative regulation of autophagy

30704899

TgeneMTOR

GO:0016242

negative regulation of macroautophagy

25327288

TgeneMTOR

GO:0016310

phosphorylation

11853878|25327288

TgeneMTOR

GO:0031667

response to nutrient levels

29750193

TgeneMTOR

GO:0034198

cellular response to amino acid starvation

22424946

TgeneMTOR

GO:0038202

TORC1 signaling

28223137

TgeneMTOR

GO:0043200

response to amino acid

18497260

TgeneMTOR

GO:0045727

positive regulation of translation

18762023

TgeneMTOR

GO:0046777

protein autophosphorylation

15467718

TgeneMTOR

GO:0071230

cellular response to amino acid stimulus

22424946

TgeneMTOR

GO:0071233

cellular response to leucine

22424946

TgeneMTOR

GO:1990253

cellular response to leucine starvation

22424946


check buttonFusion gene breakpoints across KAZN (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across MTOR (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4UCECTCGA-D1-A3JQ-01AKAZNchr1

15251068

-MTORchr1

11206848

-
ChimerDB4UCECTCGA-D1-A3JQ-01AKAZNchr1

15251068

+MTORchr1

11206848

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000361144KAZNchr115251068+ENST00000361445MTORchr111206848-447344320835221104

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000361144ENST00000361445KAZNchr115251068+MTORchr111206848-0.0034261510.9965739

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>41285_41285_1_KAZN-MTOR_KAZN_chr1_15251068_ENST00000361144_MTOR_chr1_11206848_ENST00000361445_length(amino acids)=1104AA_BP=78
MVASPRAPGMRAADSGSWERVRQLAAQGEPAPSCGAGAGPARPPGPAACEQCVDAAGPGDRPRAGVPRVRADGDCSQPGQWDSMEEYTCM
IPRDTHDGAFYRAVLALHQDLFSLAQQCIDKARDLLDAELTAMAGESYSRAYGAMVSCHMLSELEEVIQYKLVPERREIIRQIWWERLQG
CQRIVEDWQKILMVRSLVVSPHEDMRTWLKYASLCGKSGRLALAHKTLVLLLGVDPSRQLDHPLPTVHPQVTYAYMKNMWKSARKIDAFQ
HMQHFVQTMQQQAQHAIATEDQQHKQELHKLMARCFLKLGEWQLNLQGINESTIPKVLQYYSAATEHDRSWYKAWHAWAVMNFEAVLHYK
HQNQARDEKKKLRHASGANITNATTAATTAATATTTASTEGSNSESEAESTENSPTPSPLQKKVTEDLSKTLLMYTVPAVQGFFRSISLS
RGNNLQDTLRVLTLWFDYGHWPDVNEALVEGVKAIQIDTWLQVIPQLIARIDTPRPLVGRLIHQLLTDIGRYHPQALIYPLTVASKSTTT
ARHNAANKILKNMCEHSNTLVQQAMMVSEELIRVAILWHEMWHEGLEEASRLYFGERNVKGMFEVLEPLHAMMERGPQTLKETSFNQAYG
RDLMEAQEWCRKYMKSGNVKDLTQAWDLYYHVFRRISKQLPQLTSLELQYVSPKLLMCRDLELAVPGTYDPNQPIIRIQSIAPSLQVITS
KQRPRKLTLMGSNGHEFVFLLKGHEDLRQDERVMQLFGLVNTLLANDPTSLRKNLSIQRYAVIPLSTNSGLIGWVPHCDTLHALIRDYRE
KKKILLNIEHRIMLRMAPDYDHLTLMQKVEVFEHAVNNTAGDDLAKLLWLKSPSSEVWFDRRTNYTRSLAVMSMVGYILGLGDRHPSNLM
LDRLSGKILHIDFGDCFEVAMTREKFPEKIPFRLTRMLTNAMEVTGLDGNYRITCHTVMEVLREHKDSVMAVLEAFVYDPLLNWRLMDTN
TKGNKRSRTRTDSYSAGQSVEILDGVELGEPAHKKTGTTVPESIHSFIGDGLVKPEALNKKAIQIINRVRDKLTGRDFSHDDTLDVPTQV

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:15251068/chr1:11206848)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KAZN

Q674X7

MTOR

TLDC1

FUNCTION: Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherens junctions and desmosomes. The function in the nucleus is not known. {ECO:0000269|PubMed:15337775}.456

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530582182_25161523.33333333333332550.0DomainPI3K/PI4K
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530582517_25491523.33333333333332550.0DomainFATC
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581542_15741523.33333333333332550.0RepeatNote=TPR 7
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581575_16141523.33333333333332550.0RepeatNote=TPR 8
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581615_16491523.33333333333332550.0RepeatNote=TPR 9
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581650_16931523.33333333333332550.0RepeatNote=TPR 10
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581694_17311523.33333333333332550.0RepeatNote=TPR 11
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581732_17861523.33333333333332550.0RepeatNote=TPR 12
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581787_18461523.33333333333332550.0RepeatNote=TPR 13
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581898_19301523.33333333333332550.0RepeatNote=TPR 14
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581931_19701523.33333333333332550.0RepeatNote=TPR 15
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581971_20051523.33333333333332550.0RepeatNote=TPR 16

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKAZNchr1:15251068chr1:11206848ENST00000361144+1874_25669.33333333333333416.0Coiled coilOntology_term=ECO:0000255
HgeneKAZNchr1:15251068chr1:11206848ENST00000376030+11574_2560776.0Coiled coilOntology_term=ECO:0000255
HgeneKAZNchr1:15251068chr1:11206848ENST00000400797+1874_2560328.0Coiled coilOntology_term=ECO:0000255
HgeneKAZNchr1:15251068chr1:11206848ENST00000400798+1874_2560328.0Coiled coilOntology_term=ECO:0000255
HgeneKAZNchr1:15251068chr1:11206848ENST00000422387+1874_2560422.0Coiled coilOntology_term=ECO:0000255
HgeneKAZNchr1:15251068chr1:11206848ENST00000503743+1974_2560422.0Coiled coilOntology_term=ECO:0000255
HgeneKAZNchr1:15251068chr1:11206848ENST00000361144+18375_38269.33333333333333416.0Compositional biasNote=Poly-Lys
HgeneKAZNchr1:15251068chr1:11206848ENST00000376030+115375_3820776.0Compositional biasNote=Poly-Lys
HgeneKAZNchr1:15251068chr1:11206848ENST00000400797+18375_3820328.0Compositional biasNote=Poly-Lys
HgeneKAZNchr1:15251068chr1:11206848ENST00000400798+18375_3820328.0Compositional biasNote=Poly-Lys
HgeneKAZNchr1:15251068chr1:11206848ENST00000422387+18375_3820422.0Compositional biasNote=Poly-Lys
HgeneKAZNchr1:15251068chr1:11206848ENST00000503743+19375_3820422.0Compositional biasNote=Poly-Lys
HgeneKAZNchr1:15251068chr1:11206848ENST00000361144+18446_51169.33333333333333416.0DomainSAM 1
HgeneKAZNchr1:15251068chr1:11206848ENST00000361144+18524_58869.33333333333333416.0DomainSAM 2
HgeneKAZNchr1:15251068chr1:11206848ENST00000361144+18612_67969.33333333333333416.0DomainSAM 3
HgeneKAZNchr1:15251068chr1:11206848ENST00000376030+115446_5110776.0DomainSAM 1
HgeneKAZNchr1:15251068chr1:11206848ENST00000376030+115524_5880776.0DomainSAM 2
HgeneKAZNchr1:15251068chr1:11206848ENST00000376030+115612_6790776.0DomainSAM 3
HgeneKAZNchr1:15251068chr1:11206848ENST00000400797+18446_5110328.0DomainSAM 1
HgeneKAZNchr1:15251068chr1:11206848ENST00000400797+18524_5880328.0DomainSAM 2
HgeneKAZNchr1:15251068chr1:11206848ENST00000400797+18612_6790328.0DomainSAM 3
HgeneKAZNchr1:15251068chr1:11206848ENST00000400798+18446_5110328.0DomainSAM 1
HgeneKAZNchr1:15251068chr1:11206848ENST00000400798+18524_5880328.0DomainSAM 2
HgeneKAZNchr1:15251068chr1:11206848ENST00000400798+18612_6790328.0DomainSAM 3
HgeneKAZNchr1:15251068chr1:11206848ENST00000422387+18446_5110422.0DomainSAM 1
HgeneKAZNchr1:15251068chr1:11206848ENST00000422387+18524_5880422.0DomainSAM 2
HgeneKAZNchr1:15251068chr1:11206848ENST00000422387+18612_6790422.0DomainSAM 3
HgeneKAZNchr1:15251068chr1:11206848ENST00000503743+19446_5110422.0DomainSAM 1
HgeneKAZNchr1:15251068chr1:11206848ENST00000503743+19524_5880422.0DomainSAM 2
HgeneKAZNchr1:15251068chr1:11206848ENST00000503743+19612_6790422.0DomainSAM 3
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581382_19821523.33333333333332550.0DomainFAT
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058100_1371523.33333333333332550.0RepeatNote=HEAT 3
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581029_10681523.33333333333332550.0RepeatNote=HEAT 25
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581069_11051523.33333333333332550.0RepeatNote=HEAT 26
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581106_11441523.33333333333332550.0RepeatNote=HEAT 27
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581145_11881523.33333333333332550.0RepeatNote=HEAT 28
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581189_12251523.33333333333332550.0RepeatNote=HEAT 29
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581226_12731523.33333333333332550.0RepeatNote=HEAT 30
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581274_13111523.33333333333332550.0RepeatNote=HEAT 31
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581312_13451523.33333333333332550.0RepeatNote=HEAT 32
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581346_13821523.33333333333332550.0RepeatNote=TPR 1
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581383_14081523.33333333333332550.0RepeatNote=TPR 2
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058138_1791523.33333333333332550.0RepeatNote=HEAT 4
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581409_14421523.33333333333332550.0RepeatNote=TPR 3
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581443_14731523.33333333333332550.0RepeatNote=TPR 4
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581474_15071523.33333333333332550.0RepeatNote=TPR 5
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581508_15411523.33333333333332550.0RepeatNote=TPR 6
TgeneMTORchr1:15251068chr1:11206848ENST00000361445305816_531523.33333333333332550.0RepeatNote=HEAT 1
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058180_2201523.33333333333332550.0RepeatNote=HEAT 5
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058222_2761523.33333333333332550.0RepeatNote=HEAT 6
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058277_3131523.33333333333332550.0RepeatNote=HEAT 7
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058314_3641523.33333333333332550.0RepeatNote=HEAT 8
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058365_4091523.33333333333332550.0RepeatNote=HEAT 9
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058410_4451523.33333333333332550.0RepeatNote=HEAT 10
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058446_4941523.33333333333332550.0RepeatNote=HEAT 11
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058495_5291523.33333333333332550.0RepeatNote=HEAT 12
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058530_5631523.33333333333332550.0RepeatNote=HEAT 13
TgeneMTORchr1:15251068chr1:11206848ENST00000361445305855_991523.33333333333332550.0RepeatNote=HEAT 2
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058564_5961523.33333333333332550.0RepeatNote=HEAT 14
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058597_6361523.33333333333332550.0RepeatNote=HEAT 15
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058637_6831523.33333333333332550.0RepeatNote=HEAT 16
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058686_7241523.33333333333332550.0RepeatNote=HEAT 17
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058727_7661523.33333333333332550.0RepeatNote=HEAT 18
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058769_8111523.33333333333332550.0RepeatNote=HEAT 19
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058814_8531523.33333333333332550.0RepeatNote=HEAT 20
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058857_8931523.33333333333332550.0RepeatNote=HEAT 21
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058894_9421523.33333333333332550.0RepeatNote=HEAT 22
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058943_9881523.33333333333332550.0RepeatNote=HEAT 23
TgeneMTORchr1:15251068chr1:11206848ENST000003614453058989_10271523.33333333333332550.0RepeatNote=HEAT 24


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
KAZN
MTOR


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneKAZNchr1:15251068chr1:11206848ENST00000361144+18174_33369.33333333333333416.0PPL
HgeneKAZNchr1:15251068chr1:11206848ENST00000376030+115174_3330776.0PPL
HgeneKAZNchr1:15251068chr1:11206848ENST00000400797+18174_3330328.0PPL
HgeneKAZNchr1:15251068chr1:11206848ENST00000400798+18174_3330328.0PPL
HgeneKAZNchr1:15251068chr1:11206848ENST00000422387+18174_3330422.0PPL
HgeneKAZNchr1:15251068chr1:11206848ENST00000503743+19174_3330422.0PPL
TgeneMTORchr1:15251068chr1:11206848ENST0000036144530581_6511523.33333333333332550.0NBN


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Related Drugs to KAZN-MTOR


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to KAZN-MTOR


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource