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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 22857

FusionGeneSummary for MUC13_EGFR

check button Fusion gene summary
Fusion gene informationFusion gene name: MUC13_EGFR
Fusion gene ID: 22857
HgeneTgene
Gene symbol

MUC13

EGFR

Gene ID

56667

1956

Gene namemucin 13, cell surface associatedepidermal growth factor receptor
SynonymsDRCC1|MUC-13ERBB|ERBB1|HER1|NISBD2|PIG61|mENA
Cytomap

3q21.2

7p11.2

Type of geneprotein-codingprotein-coding
Descriptionmucin-13down-regulated in colon cancer 1mucin 13, epithelial transmembraneepidermal 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 kinas
Modification date2018052320180527
UniProtAcc

Q9H3R2

P00533

Ensembl transtripts involved in fusion geneENST00000311075, ENST00000497378, 
ENST00000455089, ENST00000342916, 
ENST00000344576, ENST00000420316, 
ENST00000275493, ENST00000442591, 
ENST00000463948, ENST00000454757, 
Fusion gene scores* DoF score2 X 2 X 2=89 X 10 X 4=360
# samples 211
** MAII scorelog2(2/8*10)=1.32192809488736log2(11/360*10)=-1.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MUC13 [Title/Abstract] AND EGFR [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneEGFR

GO:0001934

positive regulation of protein phosphorylation

20551055

TgeneEGFR

GO:0007165

signal transduction

10572067

TgeneEGFR

GO:0007166

cell surface receptor signaling pathway

7736574

TgeneEGFR

GO:0007173

epidermal growth factor receptor signaling pathway

7736574|12435727

TgeneEGFR

GO:0008283

cell proliferation

17115032

TgeneEGFR

GO:0008284

positive regulation of cell proliferation

7736574

TgeneEGFR

GO:0010750

positive regulation of nitric oxide mediated signal transduction

12828935

TgeneEGFR

GO:0018108

peptidyl-tyrosine phosphorylation

22732145

TgeneEGFR

GO:0030307

positive regulation of cell growth

15467833

TgeneEGFR

GO:0031659

positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle

18483258

TgeneEGFR

GO:0042177

negative regulation of protein catabolic process

17115032

TgeneEGFR

GO:0042327

positive regulation of phosphorylation

15082764

TgeneEGFR

GO:0043406

positive regulation of MAP kinase activity

10572067

TgeneEGFR

GO:0045739

positive regulation of DNA repair

17115032

TgeneEGFR

GO:0045740

positive regulation of DNA replication

17115032

TgeneEGFR

GO:0045944

positive regulation of transcription by RNA polymerase II

20551055

TgeneEGFR

GO:0050679

positive regulation of epithelial cell proliferation

10572067

TgeneEGFR

GO:0050999

regulation of nitric-oxide synthase activity

12828935

TgeneEGFR

GO:0070141

response to UV-A

18483258

TgeneEGFR

GO:0070374

positive regulation of ERK1 and ERK2 cascade

20551055

TgeneEGFR

GO:0071392

cellular response to estradiol stimulus

20551055

TgeneEGFR

GO:1900020

positive regulation of protein kinase C activity

22732145

TgeneEGFR

GO:1903078

positive regulation of protein localization to plasma membrane

22732145


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AW006478MUC13chr3

124624444

+EGFRchr7

55194264

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000311075ENST00000455089MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000311075ENST00000342916MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000311075ENST00000344576MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000311075ENST00000420316MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000311075ENST00000275493MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000311075ENST00000442591MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000311075ENST00000463948MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000311075ENST00000454757MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000497378ENST00000455089MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000497378ENST00000342916MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000497378ENST00000344576MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000497378ENST00000420316MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000497378ENST00000275493MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000497378ENST00000442591MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000497378ENST00000463948MUC13chr3

124624444

+EGFRchr7

55194264

-
intron-intronENST00000497378ENST00000454757MUC13chr3

124624444

+EGFRchr7

55194264

-

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FusionProtFeatures for MUC13_EGFR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MUC13

Q9H3R2

EGFR

P00533

Epithelial and hemopoietic transmembrane mucin that mayplay a role in cell signaling.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MUC13_EGFR


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MUC13_EGFR


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for MUC13_EGFR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneEGFRP00533DB00002CetuximabEpidermal growth factor receptorbiotechapproved
TgeneEGFRP00533DB05294VandetanibEpidermal growth factor receptorsmall moleculeapproved
TgeneEGFRP00533DB08916AfatinibEpidermal growth factor receptorsmall moleculeapproved
TgeneEGFRP00533DB00072TrastuzumabEpidermal growth factor receptorbiotechapproved|investigational
TgeneEGFRP00533DB00317GefitinibEpidermal growth factor receptorsmall moleculeapproved|investigational
TgeneEGFRP00533DB00530ErlotinibEpidermal growth factor receptorsmall moleculeapproved|investigational
TgeneEGFRP00533DB01259LapatinibEpidermal growth factor receptorsmall moleculeapproved|investigational
TgeneEGFRP00533DB01269PanitumumabEpidermal growth factor receptorbiotechapproved|investigational
TgeneEGFRP00533DB09559NecitumumabEpidermal growth factor receptorbiotechapproved|investigational
TgeneEGFRP00533DB00281LidocaineEpidermal growth factor receptorsmall moleculeapproved|vet_approved

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RelatedDiseases for MUC13_EGFR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEGFRC0007131Non-Small Cell Lung Carcinoma16CTD_human
TgeneEGFRC1458155Mammary Neoplasms6CTD_human
TgeneEGFRC0024121Lung Neoplasms5CTD_human
TgeneEGFRC0001418Adenocarcinoma4CTD_human
TgeneEGFRC0007137Squamous cell carcinoma3CTD_human
TgeneEGFRC0007873Uterine Cervical Neoplasm3CTD_human
TgeneEGFRC0014859Esophageal Neoplasms3CTD_human
TgeneEGFRC0017636Glioblastoma3CTD_human
TgeneEGFRC0018671Head and Neck Neoplasms3CTD_human
TgeneEGFRC0027627Neoplasm Metastasis3CTD_human
TgeneEGFRC0033578Prostatic Neoplasms3CTD_human
TgeneEGFRC0038356Stomach Neoplasms3CTD_human
TgeneEGFRC0005695Bladder Neoplasm2CTD_human
TgeneEGFRC0009375Colonic Neoplasms2CTD_human
TgeneEGFRC0009404Colorectal Neoplasms2CTD_human
TgeneEGFRC0024668Mammary Neoplasms, Experimental2CTD_human
TgeneEGFRC0027626Neoplasm Invasiveness2CTD_human
TgeneEGFRC0027643Neoplasm Recurrence, Local2CTD_human
TgeneEGFRC0152013Adenocarcinoma of lung (disorder)2CTD_human
TgeneEGFRC0919267ovarian neoplasm2CTD_human
TgeneEGFRC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneEGFRC0005396Bile Duct Neoplasms1CTD_human
TgeneEGFRC0007193Cardiomyopathy, Dilated1CTD_human
TgeneEGFRC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneEGFRC0014175Endometriosis1CTD_human
TgeneEGFRC0016978gallbladder neoplasm1CTD_human
TgeneEGFRC0021655Insulin Resistance1CTD_human
TgeneEGFRC0024667Animal Mammary Neoplasms1CTD_human
TgeneEGFRC0024809Marijuana Abuse1PSYGENET
TgeneEGFRC0025500Mesothelioma1CTD_human
TgeneEGFRC0027439Nasopharyngeal Neoplasms1CTD_human
TgeneEGFRC0029463Osteosarcoma1CTD_human
TgeneEGFRC0030354Papilloma1CTD_human
TgeneEGFRC0032580Adenomatous Polyposis Coli1CTD_human
TgeneEGFRC0034885Rectal Neoplasms1CTD_human
TgeneEGFRC0041696Unipolar Depression1PSYGENET
TgeneEGFRC0085548Autosomal Recessive Polycystic Kidney Disease1CTD_human
TgeneEGFRC0085762Alcohol abuse1PSYGENET
TgeneEGFRC0149925Small cell carcinoma of lung1CTD_human
TgeneEGFRC0206686Adrenocortical carcinoma1CTD_human
TgeneEGFRC0206698Cholangiocarcinoma1CTD_human
TgeneEGFRC0263454Chloracne1CTD_human
TgeneEGFRC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneEGFRC0345967Malignant mesothelioma1CTD_human
TgeneEGFRC0376634Craniofacial Abnormalities1CTD_human
TgeneEGFRC0993582Arthritis, Experimental1CTD_human
TgeneEGFRC1269683Major Depressive Disorder1PSYGENET
TgeneEGFRC2239176Liver carcinoma1CTD_human
TgeneEGFRC2609414Acute kidney injury1CTD_human
TgeneEGFRC4015130INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 21UNIPROT