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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:EGFR-SEPT14

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EGFR-SEPT14
FusionPDB ID: 25482
FusionGDB2.0 ID: 25482
HgeneTgene
Gene symbol

EGFR

SEPT14

Gene ID

1956

346288

Gene nameepidermal growth factor receptorseptin 14
SynonymsERBB|ERBB1|HER1|NISBD2|PIG61|mENASEPT14
Cytomap

7p11.2

7p11.2

Type of geneprotein-codingprotein-coding
Descriptionepidermal growth factor receptoravian erythroblastic leukemia viral (v-erb-b) oncogene homologcell growth inhibiting protein 40cell proliferation-inducing protein 61epidermal growth factor receptor tyrosine kinase domainerb-b2 receptor tyrosine kinasseptin-14
Modification date2020032920200313
UniProtAcc

P00533

.
Ensembl transtripts involved in fusion geneENST idsENST00000463948, ENST00000275493, 
ENST00000342916, ENST00000344576, 
ENST00000420316, ENST00000442591, 
ENST00000454757, ENST00000455089, 
ENST00000388975, ENST00000477628, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score41 X 25 X 14=143506 X 5 X 5=150
# samples 5313
** MAII scorelog2(53/14350*10)=-4.75891456699985
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/150*10)=-0.206450877467426
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: EGFR [Title/Abstract] AND SEPT14 [Title/Abstract] AND fusion [Title/Abstract]

Detection of EGFR-SEPT14 fusion in cell-free DNA of a patient with advanced gastric cancer: A case report (pmid: 33969073)
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EGFR(55268106)-SEPT14(55863785), # samples:24
Anticipated loss of major functional domain due to fusion event.EGFR-SEPT14 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.
EGFR-SEPT14 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.
EGFR-SEPT14 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.
EGFR-SEPT14 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.
EGFR-SEPT14 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
EGFR-SEPT14 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
EGFR-SEPT14 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted 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
HgeneEGFR

GO:0001934

positive regulation of protein phosphorylation

20551055

HgeneEGFR

GO:0007165

signal transduction

10572067

HgeneEGFR

GO:0007166

cell surface receptor signaling pathway

7736574

HgeneEGFR

GO:0007173

epidermal growth factor receptor signaling pathway

7736574|12435727

HgeneEGFR

GO:0008283

cell proliferation

17115032

HgeneEGFR

GO:0008284

positive regulation of cell proliferation

7736574

HgeneEGFR

GO:0010750

positive regulation of nitric oxide mediated signal transduction

12828935

HgeneEGFR

GO:0018108

peptidyl-tyrosine phosphorylation

22732145

HgeneEGFR

GO:0030307

positive regulation of cell growth

15467833

HgeneEGFR

GO:0042177

negative regulation of protein catabolic process

17115032

HgeneEGFR

GO:0042327

positive regulation of phosphorylation

15082764

HgeneEGFR

GO:0043406

positive regulation of MAP kinase activity

10572067

HgeneEGFR

GO:0045739

positive regulation of DNA repair

17115032

HgeneEGFR

GO:0045740

positive regulation of DNA replication

17115032

HgeneEGFR

GO:0045944

positive regulation of transcription by RNA polymerase II

20551055

HgeneEGFR

GO:0050679

positive regulation of epithelial cell proliferation

10572067

HgeneEGFR

GO:0050999

regulation of nitric-oxide synthase activity

12828935

HgeneEGFR

GO:0070141

response to UV-A

18483258

HgeneEGFR

GO:0070374

positive regulation of ERK1 and ERK2 cascade

20551055

HgeneEGFR

GO:0071392

cellular response to estradiol stimulus

20551055

HgeneEGFR

GO:1900020

positive regulation of protein kinase C activity

22732145

HgeneEGFR

GO:1903078

positive regulation of protein localization to plasma membrane

22732145


check buttonFusion gene breakpoints across EGFR (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 SEPT14 (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
ChimerDB4GBMTCGA-02-2485-01AEGFRchr7

55268106

+SEPT14chr7

55886916

-
ChimerDB4GBMTCGA-06-0187-01AEGFRchr7

55268106

+SEPT14chr7

55863785

-
ChimerDB4GBMTCGA-06-0211-01AEGFRchr7

55087058

+SEPT14chr7

55886916

-
ChimerDB4GBMTCGA-06-0211-01BEGFRchr7

55087058

+SEPT14chr7

55886916

-
ChimerDB4GBMTCGA-06-0750-01AEGFRchr7

55268106

-SEPT14chr7

55863785

-
ChimerDB4GBMTCGA-06-0750-01AEGFRchr7

55268106

+SEPT14chr7

55863785

-
ChimerDB4GBMTCGA-06-2557-01AEGFRchr7

55268106

+SEPT14chr7

55863785

-
ChimerDB4GBMTCGA-06-A6S1-01AEGFRchr7

55268106

+SEPT14chr7

55863785

-
ChimerDB4GBMTCGA-14-1825-01AEGFRchr7

55268106

+SEPT14chr7

55863785

-
ChimerDB4GBMTCGA-27-1837-01AEGFRchr7

55268106

-SEPT14chr7

55863785

-
ChimerDB4GBMTCGA-27-1837-01AEGFRchr7

55268106

+SEPT14chr7

55863785

-
ChimerDB4GBMTCGA-28-1747-01CEGFRchr7

55268106

-SEPT14chr7

55863785

-
ChimerDB4GBMTCGA-28-1747-01CEGFRchr7

55268106

+SEPT14chr7

55863785

-
ChimerDB4GBMTCGA-28-2513-01AEGFRchr7

55268106

-SEPT14chr7

55863785

-
ChimerDB4GBMTCGA-28-2513-01AEGFRchr7

55268106

+SEPT14chr7

55863785

-
ChimerDB4GBMTCGA-32-5222-01AEGFRchr7

55268106

-SEPT14chr7

55863785

-
ChimerDB4GBMTCGA-32-5222-01AEGFRchr7

55268106

+SEPT14chr7

55863785

-
ChimerDB4HNSCTCGA-CR-7368-01AEGFRchr7

55087058

-SEPT14chr7

55874951

-
ChimerDB4HNSCTCGA-CR-7368-01AEGFRchr7

55087058

+SEPT14chr7

55874951

-
ChimerDB4LGGTCGA-DU-5852-01AEGFRchr7

55270318

+SEPT14chr7

55863785

-
ChimerDB4LGGTCGA-DU-6406-01AEGFRchr7

55268106

-SEPT14chr7

55863785

-
ChimerDB4LGGTCGA-DU-6406-01AEGFRchr7

55268106

+SEPT14chr7

55863785

-
ChimerDB4LGGTCGA-DU-6406EGFRchr7

55268106

+SEPT14chr7

55863785

-
ChimerDB4LGGTCGA-DU-6407-01AEGFRchr7

55268106

+SEPT14chr7

55863785

-


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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)
ENST00000455089EGFRchr755268106+ENST00000388975SEPT14chr755886916-6016306825736461129
ENST00000275493EGFRchr755268106+ENST00000388975SEPT14chr755886916-6071312317737011174
ENST00000454757EGFRchr755268106+ENST00000388975SEPT14chr755886916-5918297014435481134
ENST00000455089EGFRchr755087058+ENST00000388975SEPT14chr755874951-3196345257826189
ENST00000342916EGFRchr755087058+ENST00000388975SEPT14chr755874951-3185334246815189
ENST00000344576EGFRchr755087058+ENST00000388975SEPT14chr755874951-3184333245814189
ENST00000420316EGFRchr755087058+ENST00000388975SEPT14chr755874951-3183332244813189
ENST00000275493EGFRchr755087058+ENST00000388975SEPT14chr755874951-3116265177746189
ENST00000442591EGFRchr755087058+ENST00000388975SEPT14chr755874951-3099248160729189
ENST00000455089EGFRchr755270318+ENST00000388975SEPT14chr755863785-6284373525734511064

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
ENST00000455089ENST00000388975EGFRchr755268106+SEPT14chr755886916-0.0001368850.99986315
ENST00000275493ENST00000388975EGFRchr755268106+SEPT14chr755886916-0.0001289610.999871
ENST00000454757ENST00000388975EGFRchr755268106+SEPT14chr755886916-0.0001125340.99988747
ENST00000455089ENST00000388975EGFRchr755087058+SEPT14chr755874951-0.0005325610.99946743
ENST00000342916ENST00000388975EGFRchr755087058+SEPT14chr755874951-0.0005360790.999464
ENST00000344576ENST00000388975EGFRchr755087058+SEPT14chr755874951-0.0005326050.99946743
ENST00000420316ENST00000388975EGFRchr755087058+SEPT14chr755874951-0.0005308350.9994692
ENST00000275493ENST00000388975EGFRchr755087058+SEPT14chr755874951-0.0005167650.9994832
ENST00000442591ENST00000388975EGFRchr755087058+SEPT14chr755874951-0.0005097050.99949026
ENST00000455089ENST00000388975EGFRchr755270318+SEPT14chr755863785-0.0001453270.9998547

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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

>25482_25482_1_EGFR-SEPT14_EGFR_chr7_55087058_ENST00000275493_SEPT14_chr7_55874951_ENST00000388975_length(amino acids)=189AA_BP=29
MRPSGTAGAALLALLAALCPASRALEEKKVENENHCDFVKLRDMLLCTNMENLKEKTHTQHYECYRYQKLQKMGFTDVGPNNQPVSFQEI
FEAKRQEFYDQCQREEEELKQRFMQRVKEKEATFKEAEKELQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEALQTQLSTD

--------------------------------------------------------------

>25482_25482_2_EGFR-SEPT14_EGFR_chr7_55087058_ENST00000342916_SEPT14_chr7_55874951_ENST00000388975_length(amino acids)=189AA_BP=29
MRPSGTAGAALLALLAALCPASRALEEKKVENENHCDFVKLRDMLLCTNMENLKEKTHTQHYECYRYQKLQKMGFTDVGPNNQPVSFQEI
FEAKRQEFYDQCQREEEELKQRFMQRVKEKEATFKEAEKELQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEALQTQLSTD

--------------------------------------------------------------

>25482_25482_3_EGFR-SEPT14_EGFR_chr7_55087058_ENST00000344576_SEPT14_chr7_55874951_ENST00000388975_length(amino acids)=189AA_BP=29
MRPSGTAGAALLALLAALCPASRALEEKKVENENHCDFVKLRDMLLCTNMENLKEKTHTQHYECYRYQKLQKMGFTDVGPNNQPVSFQEI
FEAKRQEFYDQCQREEEELKQRFMQRVKEKEATFKEAEKELQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEALQTQLSTD

--------------------------------------------------------------

>25482_25482_4_EGFR-SEPT14_EGFR_chr7_55087058_ENST00000420316_SEPT14_chr7_55874951_ENST00000388975_length(amino acids)=189AA_BP=29
MRPSGTAGAALLALLAALCPASRALEEKKVENENHCDFVKLRDMLLCTNMENLKEKTHTQHYECYRYQKLQKMGFTDVGPNNQPVSFQEI
FEAKRQEFYDQCQREEEELKQRFMQRVKEKEATFKEAEKELQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEALQTQLSTD

--------------------------------------------------------------

>25482_25482_5_EGFR-SEPT14_EGFR_chr7_55087058_ENST00000442591_SEPT14_chr7_55874951_ENST00000388975_length(amino acids)=189AA_BP=29
MRPSGTAGAALLALLAALCPASRALEEKKVENENHCDFVKLRDMLLCTNMENLKEKTHTQHYECYRYQKLQKMGFTDVGPNNQPVSFQEI
FEAKRQEFYDQCQREEEELKQRFMQRVKEKEATFKEAEKELQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEALQTQLSTD

--------------------------------------------------------------

>25482_25482_6_EGFR-SEPT14_EGFR_chr7_55087058_ENST00000455089_SEPT14_chr7_55874951_ENST00000388975_length(amino acids)=189AA_BP=29
MRPSGTAGAALLALLAALCPASRALEEKKVENENHCDFVKLRDMLLCTNMENLKEKTHTQHYECYRYQKLQKMGFTDVGPNNQPVSFQEI
FEAKRQEFYDQCQREEEELKQRFMQRVKEKEATFKEAEKELQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEALQTQLSTD

--------------------------------------------------------------

>25482_25482_7_EGFR-SEPT14_EGFR_chr7_55268106_ENST00000275493_SEPT14_chr7_55886916_ENST00000388975_length(amino acids)=1174AA_BP=978
MRPSGTAGAALLALLAALCPASRALEEKKVCQGTSNKLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVL
IALNTVERIPLENLQIIRGNMYYENSYALAVLSNYDANKTGLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIVSSDFLSNMSMDF
QNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICAQQCSGRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLY
NPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGSCVRACGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFK
NCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILKTVKEITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGL
RSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQKTKIISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCN
LLEGEPREFVENSECIQCHPECLPQAMNITCTGRGPDNCIQCAHYIDGPHCVKTCPAGVMGENNTLVWKYADAGHVCHLCHPNCTYGCTG
PGLEGCPTNGPKIPSIATGMVGALLLLLVVALGIGLFMRRRHIVRKRTLRRLLQERELVEPLTPSGEAPNQALLRILKETEFKKIKVLGS
GAFGTVYKGLWIPEGEKVKIPVAIKELREATSPKANKEILDEAYVMASVDNPHVCRLLGICLTSTVQLITQLMPFGCLLDYVREHKDNIG
SQYLLNWCVQIAKGMNYLEDRRLVHRDLAARNVLVKTPQHVKITDFGLAKLLGAEEKEYHAEGGKVPIKWMALESILHRIYTHQSDVWSY
GVTVWELMTFGSKPYDGIPASEISSILEKGERLPQPPICTIDVYMIMVKCWMIDADSRPKFRELIIEFSKMARDPQRYLVIQGLLPFAVV
GSTDEVKVGKRMVRGRHYPWGVLQVENENHCDFVKLRDMLLCTNMENLKEKTHTQHYECYRYQKLQKMGFTDVGPNNQPVSFQEIFEAKR
QEFYDQCQREEEELKQRFMQRVKEKEATFKEAEKELQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEALQTQLSTDTKKDK

--------------------------------------------------------------

>25482_25482_8_EGFR-SEPT14_EGFR_chr7_55268106_ENST00000454757_SEPT14_chr7_55886916_ENST00000388975_length(amino acids)=1134AA_BP=938
MGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVLIALNTVERIPLENLQIIRGNMYYENSYALAVLSNYDANKT
GLKELPMRNLQEILHGAVRFSNNPALCNVESIQWRDIVSSDFLSNMSMDFQNHLGSCQKCDPSCPNGSCWGAGEENCQKLTKIICAQQCS
GRCRGKSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGSCVRA
CGADSYEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILKTVKE
ITGFLLIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQKTKI
ISNRGENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGPDNCI
QCAHYIDGPHCVKTCPAGVMGENNTLVWKYADAGHVCHLCHPNCTYGCTGPGLEGCPTNGPKIPSIATGMVGALLLLLVVALGIGLFMRR
RHIVRKRTLRRLLQERELVEPLTPSGEAPNQALLRILKETEFKKIKVLGSGAFGTVYKGLWIPEGEKVKIPVAIKELREATSPKANKEIL
DEAYVMASVDNPHVCRLLGICLTSTVQLITQLMPFGCLLDYVREHKDNIGSQYLLNWCVQIAKGMNYLEDRRLVHRDLAARNVLVKTPQH
VKITDFGLAKLLGAEEKEYHAEGGKVPIKWMALESILHRIYTHQSDVWSYGVTVWELMTFGSKPYDGIPASEISSILEKGERLPQPPICT
IDVYMIMVKCWMIDADSRPKFRELIIEFSKMARDPQRYLVIQGLLPFAVVGSTDEVKVGKRMVRGRHYPWGVLQVENENHCDFVKLRDML
LCTNMENLKEKTHTQHYECYRYQKLQKMGFTDVGPNNQPVSFQEIFEAKRQEFYDQCQREEEELKQRFMQRVKEKEATFKEAEKELQDKF

--------------------------------------------------------------

>25482_25482_9_EGFR-SEPT14_EGFR_chr7_55268106_ENST00000455089_SEPT14_chr7_55886916_ENST00000388975_length(amino acids)=1129AA_BP=933
MRPSGTAGAALLALLAALCPASRALEEKKVCQGTSNKLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVL
IALNTVERIPLENLQIIRGNMYYENSYALAVLSNYDANKTGLKELPMRNLQGQKCDPSCPNGSCWGAGEENCQKLTKIICAQQCSGRCRG
KSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGSCVRACGADS
YEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILKTVKEITGFL
LIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQKTKIISNRG
ENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGPDNCIQCAHY
IDGPHCVKTCPAGVMGENNTLVWKYADAGHVCHLCHPNCTYGCTGPGLEGCPTNGPKIPSIATGMVGALLLLLVVALGIGLFMRRRHIVR
KRTLRRLLQERELVEPLTPSGEAPNQALLRILKETEFKKIKVLGSGAFGTVYKGLWIPEGEKVKIPVAIKELREATSPKANKEILDEAYV
MASVDNPHVCRLLGICLTSTVQLITQLMPFGCLLDYVREHKDNIGSQYLLNWCVQIAKGMNYLEDRRLVHRDLAARNVLVKTPQHVKITD
FGLAKLLGAEEKEYHAEGGKVPIKWMALESILHRIYTHQSDVWSYGVTVWELMTFGSKPYDGIPASEISSILEKGERLPQPPICTIDVYM
IMVKCWMIDADSRPKFRELIIEFSKMARDPQRYLVIQGLLPFAVVGSTDEVKVGKRMVRGRHYPWGVLQVENENHCDFVKLRDMLLCTNM
ENLKEKTHTQHYECYRYQKLQKMGFTDVGPNNQPVSFQEIFEAKRQEFYDQCQREEEELKQRFMQRVKEKEATFKEAEKELQDKFEHLKM

--------------------------------------------------------------

>25482_25482_10_EGFR-SEPT14_EGFR_chr7_55270318_ENST00000455089_SEPT14_chr7_55863785_ENST00000388975_length(amino acids)=1064AA_BP=
MRPSGTAGAALLALLAALCPASRALEEKKVCQGTSNKLTQLGTFEDHFLSLQRMFNNCEVVLGNLEITYVQRNYDLSFLKTIQEVAGYVL
IALNTVERIPLENLQIIRGNMYYENSYALAVLSNYDANKTGLKELPMRNLQGQKCDPSCPNGSCWGAGEENCQKLTKIICAQQCSGRCRG
KSPSDCCHNQCAAGCTGPRESDCLVCRKFRDEATCKDTCPPLMLYNPTTYQMDVNPEGKYSFGATCVKKCPRNYVVTDHGSCVRACGADS
YEMEEDGVRKCKKCEGPCRKVCNGIGIGEFKDSLSINATNIKHFKNCTSISGDLHILPVAFRGDSFTHTPPLDPQELDILKTVKEITGFL
LIQAWPENRTDLHAFENLEIIRGRTKQHGQFSLAVVSLNITSLGLRSLKEISDGDVIISGNKNLCYANTINWKKLFGTSGQKTKIISNRG
ENSCKATGQVCHALCSPEGCWGPEPRDCVSCRNVSRGRECVDKCNLLEGEPREFVENSECIQCHPECLPQAMNITCTGRGPDNCIQCAHY
IDGPHCVKTCPAGVMGENNTLVWKYADAGHVCHLCHPNCTYGCTGPGLEGCPTNGPKIPSIATGMVGALLLLLVVALGIGLFMRRRHIVR
KRTLRRLLQERELVEPLTPSGEAPNQALLRILKETEFKKIKVLGSGAFGTVYKGLWIPEGEKVKIPVAIKELREATSPKANKEILDEAYV
MASVDNPHVCRLLGICLTSTVQLITQLMPFGCLLDYVREHKDNIGSQYLLNWCVQIAKGMNYLEDRRLVHRDLAARNVLVKTPQHVKITD
FGLAKLLGAEEKEYHAEGGKVPIKWMALESILHRIYTHQSDVWSYGVTVWELMTFGSKPYDGIPASEISSILEKGERLPQPPICTIDVYM
IMVKCWMIDADSRPKFRELIIEFSKMARDPQRYLVIQGDERMHLPSPTDSNFYRALMDEEDMDDVVDADEYLIPQQGFFSSPSTSRTPLL

--------------------------------------------------------------

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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/chr7:55268106/chr7:55863785)
- 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
EGFR

P00533

.
FUNCTION: Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:2790960, PubMed:10805725, PubMed:27153536). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:2790960, PubMed:7679104, PubMed:8144591, PubMed:9419975, PubMed:15611079, PubMed:12297049, PubMed:27153536, PubMed:20837704, PubMed:17909029). Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates at least 4 major downstream signaling cascades including the RAS-RAF-MEK-ERK, PI3 kinase-AKT, PLCgamma-PKC and STATs modules (PubMed:27153536). May also activate the NF-kappa-B signaling cascade (PubMed:11116146). Also directly phosphorylates other proteins like RGS16, activating its GTPase activity and probably coupling the EGF receptor signaling to the G protein-coupled receptor signaling (PubMed:11602604). Also phosphorylates MUC1 and increases its interaction with SRC and CTNNB1/beta-catenin (PubMed:11483589). Positively regulates cell migration via interaction with CCDC88A/GIV which retains EGFR at the cell membrane following ligand stimulation, promoting EGFR signaling which triggers cell migration (PubMed:20462955). Plays a role in enhancing learning and memory performance (By similarity). {ECO:0000250|UniProtKB:Q01279, ECO:0000269|PubMed:10805725, ECO:0000269|PubMed:11116146, ECO:0000269|PubMed:11483589, ECO:0000269|PubMed:11602604, ECO:0000269|PubMed:12297049, ECO:0000269|PubMed:12297050, ECO:0000269|PubMed:12620237, ECO:0000269|PubMed:12873986, ECO:0000269|PubMed:15374980, ECO:0000269|PubMed:15590694, ECO:0000269|PubMed:15611079, ECO:0000269|PubMed:17115032, ECO:0000269|PubMed:17909029, ECO:0000269|PubMed:19560417, ECO:0000269|PubMed:20462955, ECO:0000269|PubMed:20837704, ECO:0000269|PubMed:21258366, ECO:0000269|PubMed:27153536, ECO:0000269|PubMed:2790960, ECO:0000269|PubMed:7679104, ECO:0000269|PubMed:8144591, ECO:0000269|PubMed:9419975}.; FUNCTION: Isoform 2 may act as an antagonist of EGF action.; FUNCTION: (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins. {ECO:0000269|PubMed:21516087}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

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* 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
HgeneEGFRchr7:55268106chr7:55886916ENST00000275493+2428712_979982.01211.0DomainProtein kinase
HgeneEGFRchr7:55270318chr7:55863785ENST00000275493+2728712_9791090.33333333333331211.0DomainProtein kinase
HgeneEGFRchr7:55268106chr7:55886916ENST00000275493+2428718_726982.01211.0Nucleotide bindingATP
HgeneEGFRchr7:55268106chr7:55886916ENST00000275493+2428790_791982.01211.0Nucleotide bindingATP
HgeneEGFRchr7:55270318chr7:55863785ENST00000275493+2728718_7261090.33333333333331211.0Nucleotide bindingATP
HgeneEGFRchr7:55270318chr7:55863785ENST00000275493+2728790_7911090.33333333333331211.0Nucleotide bindingATP
HgeneEGFRchr7:55268106chr7:55886916ENST00000275493+2428688_704982.01211.0RegionNote=Important for dimerization%2C phosphorylation and activation
HgeneEGFRchr7:55270318chr7:55863785ENST00000275493+2728688_7041090.33333333333331211.0RegionNote=Important for dimerization%2C phosphorylation and activation
HgeneEGFRchr7:55268106chr7:55886916ENST00000275493+2428390_600982.01211.0RepeatNote=Approximate
HgeneEGFRchr7:55268106chr7:55886916ENST00000275493+242875_300982.01211.0RepeatNote=Approximate
HgeneEGFRchr7:55270318chr7:55863785ENST00000275493+2728390_6001090.33333333333331211.0RepeatNote=Approximate
HgeneEGFRchr7:55270318chr7:55863785ENST00000275493+272875_3001090.33333333333331211.0RepeatNote=Approximate
HgeneEGFRchr7:55268106chr7:55886916ENST00000275493+242825_645982.01211.0Topological domainExtracellular
HgeneEGFRchr7:55270318chr7:55863785ENST00000275493+272825_6451090.33333333333331211.0Topological domainExtracellular
HgeneEGFRchr7:55268106chr7:55886916ENST00000275493+2428646_668982.01211.0TransmembraneHelical
HgeneEGFRchr7:55270318chr7:55863785ENST00000275493+2728646_6681090.33333333333331211.0TransmembraneHelical
TgeneSEPT14chr7:55087058chr7:55874951ENST00000388975610332_412272.3333333333333433.0Coiled coilOntology_term=ECO:0000255
TgeneSEPT14chr7:55268106chr7:55886916ENST00000388975510332_412240.0433.0Coiled coilOntology_term=ECO:0000255

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEGFRchr7:55087058chr7:55874951ENST00000275493+128712_97929.3333333333333321211.0DomainProtein kinase
HgeneEGFRchr7:55087058chr7:55874951ENST00000342916+116712_97929.333333333333332629.0DomainProtein kinase
HgeneEGFRchr7:55087058chr7:55874951ENST00000344576+116712_97929.333333333333332706.0DomainProtein kinase
HgeneEGFRchr7:55087058chr7:55874951ENST00000420316+110712_97929.333333333333332406.0DomainProtein kinase
HgeneEGFRchr7:55268106chr7:55886916ENST00000342916+116712_9790629.0DomainProtein kinase
HgeneEGFRchr7:55268106chr7:55886916ENST00000344576+116712_9790706.0DomainProtein kinase
HgeneEGFRchr7:55268106chr7:55886916ENST00000420316+110712_9790406.0DomainProtein kinase
HgeneEGFRchr7:55270318chr7:55863785ENST00000342916+116712_9790629.0DomainProtein kinase
HgeneEGFRchr7:55270318chr7:55863785ENST00000344576+116712_9790706.0DomainProtein kinase
HgeneEGFRchr7:55270318chr7:55863785ENST00000420316+110712_9790406.0DomainProtein kinase
HgeneEGFRchr7:55087058chr7:55874951ENST00000275493+128718_72629.3333333333333321211.0Nucleotide bindingATP
HgeneEGFRchr7:55087058chr7:55874951ENST00000275493+128790_79129.3333333333333321211.0Nucleotide bindingATP
HgeneEGFRchr7:55087058chr7:55874951ENST00000342916+116718_72629.333333333333332629.0Nucleotide bindingATP
HgeneEGFRchr7:55087058chr7:55874951ENST00000342916+116790_79129.333333333333332629.0Nucleotide bindingATP
HgeneEGFRchr7:55087058chr7:55874951ENST00000344576+116718_72629.333333333333332706.0Nucleotide bindingATP
HgeneEGFRchr7:55087058chr7:55874951ENST00000344576+116790_79129.333333333333332706.0Nucleotide bindingATP
HgeneEGFRchr7:55087058chr7:55874951ENST00000420316+110718_72629.333333333333332406.0Nucleotide bindingATP
HgeneEGFRchr7:55087058chr7:55874951ENST00000420316+110790_79129.333333333333332406.0Nucleotide bindingATP
HgeneEGFRchr7:55268106chr7:55886916ENST00000342916+116718_7260629.0Nucleotide bindingATP
HgeneEGFRchr7:55268106chr7:55886916ENST00000342916+116790_7910629.0Nucleotide bindingATP
HgeneEGFRchr7:55268106chr7:55886916ENST00000344576+116718_7260706.0Nucleotide bindingATP
HgeneEGFRchr7:55268106chr7:55886916ENST00000344576+116790_7910706.0Nucleotide bindingATP
HgeneEGFRchr7:55268106chr7:55886916ENST00000420316+110718_7260406.0Nucleotide bindingATP
HgeneEGFRchr7:55268106chr7:55886916ENST00000420316+110790_7910406.0Nucleotide bindingATP
HgeneEGFRchr7:55270318chr7:55863785ENST00000342916+116718_7260629.0Nucleotide bindingATP
HgeneEGFRchr7:55270318chr7:55863785ENST00000342916+116790_7910629.0Nucleotide bindingATP
HgeneEGFRchr7:55270318chr7:55863785ENST00000344576+116718_7260706.0Nucleotide bindingATP
HgeneEGFRchr7:55270318chr7:55863785ENST00000344576+116790_7910706.0Nucleotide bindingATP
HgeneEGFRchr7:55270318chr7:55863785ENST00000420316+110718_7260406.0Nucleotide bindingATP
HgeneEGFRchr7:55270318chr7:55863785ENST00000420316+110790_7910406.0Nucleotide bindingATP
HgeneEGFRchr7:55087058chr7:55874951ENST00000275493+128688_70429.3333333333333321211.0RegionNote=Important for dimerization%2C phosphorylation and activation
HgeneEGFRchr7:55087058chr7:55874951ENST00000342916+116688_70429.333333333333332629.0RegionNote=Important for dimerization%2C phosphorylation and activation
HgeneEGFRchr7:55087058chr7:55874951ENST00000344576+116688_70429.333333333333332706.0RegionNote=Important for dimerization%2C phosphorylation and activation
HgeneEGFRchr7:55087058chr7:55874951ENST00000420316+110688_70429.333333333333332406.0RegionNote=Important for dimerization%2C phosphorylation and activation
HgeneEGFRchr7:55268106chr7:55886916ENST00000342916+116688_7040629.0RegionNote=Important for dimerization%2C phosphorylation and activation
HgeneEGFRchr7:55268106chr7:55886916ENST00000344576+116688_7040706.0RegionNote=Important for dimerization%2C phosphorylation and activation
HgeneEGFRchr7:55268106chr7:55886916ENST00000420316+110688_7040406.0RegionNote=Important for dimerization%2C phosphorylation and activation
HgeneEGFRchr7:55270318chr7:55863785ENST00000342916+116688_7040629.0RegionNote=Important for dimerization%2C phosphorylation and activation
HgeneEGFRchr7:55270318chr7:55863785ENST00000344576+116688_7040706.0RegionNote=Important for dimerization%2C phosphorylation and activation
HgeneEGFRchr7:55270318chr7:55863785ENST00000420316+110688_7040406.0RegionNote=Important for dimerization%2C phosphorylation and activation
HgeneEGFRchr7:55087058chr7:55874951ENST00000275493+128390_60029.3333333333333321211.0RepeatNote=Approximate
HgeneEGFRchr7:55087058chr7:55874951ENST00000275493+12875_30029.3333333333333321211.0RepeatNote=Approximate
HgeneEGFRchr7:55087058chr7:55874951ENST00000342916+116390_60029.333333333333332629.0RepeatNote=Approximate
HgeneEGFRchr7:55087058chr7:55874951ENST00000342916+11675_30029.333333333333332629.0RepeatNote=Approximate
HgeneEGFRchr7:55087058chr7:55874951ENST00000344576+116390_60029.333333333333332706.0RepeatNote=Approximate
HgeneEGFRchr7:55087058chr7:55874951ENST00000344576+11675_30029.333333333333332706.0RepeatNote=Approximate
HgeneEGFRchr7:55087058chr7:55874951ENST00000420316+110390_60029.333333333333332406.0RepeatNote=Approximate
HgeneEGFRchr7:55087058chr7:55874951ENST00000420316+11075_30029.333333333333332406.0RepeatNote=Approximate
HgeneEGFRchr7:55268106chr7:55886916ENST00000342916+116390_6000629.0RepeatNote=Approximate
HgeneEGFRchr7:55268106chr7:55886916ENST00000342916+11675_3000629.0RepeatNote=Approximate
HgeneEGFRchr7:55268106chr7:55886916ENST00000344576+116390_6000706.0RepeatNote=Approximate
HgeneEGFRchr7:55268106chr7:55886916ENST00000344576+11675_3000706.0RepeatNote=Approximate
HgeneEGFRchr7:55268106chr7:55886916ENST00000420316+110390_6000406.0RepeatNote=Approximate
HgeneEGFRchr7:55268106chr7:55886916ENST00000420316+11075_3000406.0RepeatNote=Approximate
HgeneEGFRchr7:55270318chr7:55863785ENST00000342916+116390_6000629.0RepeatNote=Approximate
HgeneEGFRchr7:55270318chr7:55863785ENST00000342916+11675_3000629.0RepeatNote=Approximate
HgeneEGFRchr7:55270318chr7:55863785ENST00000344576+116390_6000706.0RepeatNote=Approximate
HgeneEGFRchr7:55270318chr7:55863785ENST00000344576+11675_3000706.0RepeatNote=Approximate
HgeneEGFRchr7:55270318chr7:55863785ENST00000420316+110390_6000406.0RepeatNote=Approximate
HgeneEGFRchr7:55270318chr7:55863785ENST00000420316+11075_3000406.0RepeatNote=Approximate
HgeneEGFRchr7:55087058chr7:55874951ENST00000275493+12825_64529.3333333333333321211.0Topological domainExtracellular
HgeneEGFRchr7:55087058chr7:55874951ENST00000275493+128669_121029.3333333333333321211.0Topological domainCytoplasmic
HgeneEGFRchr7:55087058chr7:55874951ENST00000342916+11625_64529.333333333333332629.0Topological domainExtracellular
HgeneEGFRchr7:55087058chr7:55874951ENST00000342916+116669_121029.333333333333332629.0Topological domainCytoplasmic
HgeneEGFRchr7:55087058chr7:55874951ENST00000344576+11625_64529.333333333333332706.0Topological domainExtracellular
HgeneEGFRchr7:55087058chr7:55874951ENST00000344576+116669_121029.333333333333332706.0Topological domainCytoplasmic
HgeneEGFRchr7:55087058chr7:55874951ENST00000420316+11025_64529.333333333333332406.0Topological domainExtracellular
HgeneEGFRchr7:55087058chr7:55874951ENST00000420316+110669_121029.333333333333332406.0Topological domainCytoplasmic
HgeneEGFRchr7:55268106chr7:55886916ENST00000275493+2428669_1210982.01211.0Topological domainCytoplasmic
HgeneEGFRchr7:55268106chr7:55886916ENST00000342916+11625_6450629.0Topological domainExtracellular
HgeneEGFRchr7:55268106chr7:55886916ENST00000342916+116669_12100629.0Topological domainCytoplasmic
HgeneEGFRchr7:55268106chr7:55886916ENST00000344576+11625_6450706.0Topological domainExtracellular
HgeneEGFRchr7:55268106chr7:55886916ENST00000344576+116669_12100706.0Topological domainCytoplasmic
HgeneEGFRchr7:55268106chr7:55886916ENST00000420316+11025_6450406.0Topological domainExtracellular
HgeneEGFRchr7:55268106chr7:55886916ENST00000420316+110669_12100406.0Topological domainCytoplasmic
HgeneEGFRchr7:55270318chr7:55863785ENST00000275493+2728669_12101090.33333333333331211.0Topological domainCytoplasmic
HgeneEGFRchr7:55270318chr7:55863785ENST00000342916+11625_6450629.0Topological domainExtracellular
HgeneEGFRchr7:55270318chr7:55863785ENST00000342916+116669_12100629.0Topological domainCytoplasmic
HgeneEGFRchr7:55270318chr7:55863785ENST00000344576+11625_6450706.0Topological domainExtracellular
HgeneEGFRchr7:55270318chr7:55863785ENST00000344576+116669_12100706.0Topological domainCytoplasmic
HgeneEGFRchr7:55270318chr7:55863785ENST00000420316+11025_6450406.0Topological domainExtracellular
HgeneEGFRchr7:55270318chr7:55863785ENST00000420316+110669_12100406.0Topological domainCytoplasmic
HgeneEGFRchr7:55087058chr7:55874951ENST00000275493+128646_66829.3333333333333321211.0TransmembraneHelical
HgeneEGFRchr7:55087058chr7:55874951ENST00000342916+116646_66829.333333333333332629.0TransmembraneHelical
HgeneEGFRchr7:55087058chr7:55874951ENST00000344576+116646_66829.333333333333332706.0TransmembraneHelical
HgeneEGFRchr7:55087058chr7:55874951ENST00000420316+110646_66829.333333333333332406.0TransmembraneHelical
HgeneEGFRchr7:55268106chr7:55886916ENST00000342916+116646_6680629.0TransmembraneHelical
HgeneEGFRchr7:55268106chr7:55886916ENST00000344576+116646_6680706.0TransmembraneHelical
HgeneEGFRchr7:55268106chr7:55886916ENST00000420316+110646_6680406.0TransmembraneHelical
HgeneEGFRchr7:55270318chr7:55863785ENST00000342916+116646_6680629.0TransmembraneHelical
HgeneEGFRchr7:55270318chr7:55863785ENST00000344576+116646_6680706.0TransmembraneHelical
HgeneEGFRchr7:55270318chr7:55863785ENST00000420316+110646_6680406.0TransmembraneHelical
TgeneSEPT14chr7:55270318chr7:55863785ENST00000388975810332_412373.0433.0Coiled coilOntology_term=ECO:0000255
TgeneSEPT14chr7:55087058chr7:55874951ENST0000038897561049_315272.3333333333333433.0DomainSeptin-type G
TgeneSEPT14chr7:55268106chr7:55886916ENST0000038897551049_315240.0433.0DomainSeptin-type G
TgeneSEPT14chr7:55270318chr7:55863785ENST0000038897581049_315373.0433.0DomainSeptin-type G
TgeneSEPT14chr7:55087058chr7:55874951ENST00000388975610195_203272.3333333333333433.0Nucleotide bindingGTP
TgeneSEPT14chr7:55268106chr7:55886916ENST00000388975510195_203240.0433.0Nucleotide bindingGTP
TgeneSEPT14chr7:55270318chr7:55863785ENST00000388975810195_203373.0433.0Nucleotide bindingGTP
TgeneSEPT14chr7:55087058chr7:55874951ENST00000388975610111_114272.3333333333333433.0RegionG3 motif
TgeneSEPT14chr7:55087058chr7:55874951ENST00000388975610194_197272.3333333333333433.0RegionG4 motif
TgeneSEPT14chr7:55087058chr7:55874951ENST0000038897561059_66272.3333333333333433.0RegionG1 motif
TgeneSEPT14chr7:55268106chr7:55886916ENST00000388975510111_114240.0433.0RegionG3 motif
TgeneSEPT14chr7:55268106chr7:55886916ENST00000388975510194_197240.0433.0RegionG4 motif
TgeneSEPT14chr7:55268106chr7:55886916ENST0000038897551059_66240.0433.0RegionG1 motif
TgeneSEPT14chr7:55270318chr7:55863785ENST00000388975810111_114373.0433.0RegionG3 motif
TgeneSEPT14chr7:55270318chr7:55863785ENST00000388975810194_197373.0433.0RegionG4 motif
TgeneSEPT14chr7:55270318chr7:55863785ENST0000038897581059_66373.0433.0RegionG1 motif


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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
EGFR
SEPT14


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


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Related Drugs to EGFR-SEPT14


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 EGFR-SEPT14


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