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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CDC42SE1-KRAS (FusionGDB2 ID:HG56882TG3845)

Fusion Gene Summary for CDC42SE1-KRAS

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC42SE1-KRAS
Fusion gene ID: hg56882tg3845
HgeneTgene
Gene symbol

CDC42SE1

KRAS

Gene ID

56882

3845

Gene nameCDC42 small effector 1KRAS proto-oncogene, GTPase
SynonymsSCIP1|SPEC1'C-K-RAS|C-K-RAS|CFC2|K-RAS2A|K-RAS2B|K-RAS4A|K-RAS4B|K-Ras|K-Ras 2|KI-RAS|KRAS1|KRAS2|NS|NS3|OES|RALD|RASK2|c-Ki-ras|c-Ki-ras2
Cytomap('CDC42SE1')('KRAS')

1q21.3

12p12.1

Type of geneprotein-codingprotein-coding
DescriptionCDC42 small effector protein 11300002M12RikCDC42-binding protein SCIP1signaling molecule SPEC1 betasmall effector of CDC42 protein 1small protein effector 1 of Cdc42GTPase KRasK-ras p21 proteinKirsten rat sarcoma viral oncogene homologKirsten rat sarcoma viral proto-oncogenePR310 c-K-ras oncogenec-Kirsten-ras proteincellular c-Ki-ras2 proto-oncogenecellular transforming proto-oncogeneoncogene KRAS2transformi
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000357235, ENST00000439374, 
ENST00000492796, ENST00000540998, 
Fusion gene scores* DoF score3 X 6 X 2=366 X 6 X 4=144
# samples 67
** MAII scorelog2(6/36*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDC42SE1 [Title/Abstract] AND KRAS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDC42SE1(151024290)-KRAS(25361596), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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


check button Fusion gene information
* 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


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Fusion Gene ORF analysis for CDC42SE1-KRAS

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

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

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

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Fusion Genomic Features for CDC42SE1-KRAS


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for CDC42SE1-KRAS


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/:151024290/:25361596)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for CDC42SE1-KRAS


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for CDC42SE1-KRAS


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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Related Drugs for CDC42SE1-KRAS


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CDC42SE1-KRAS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDC42SE1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0024121Lung Neoplasms33CGI;CTD_human
TgeneC0242379Malignant neoplasm of lung33CGI;CTD_human;UNIPROT
TgeneC0028326Noonan Syndrome13CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC1275081Cardio-facio-cutaneous syndrome12CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC3809005CARDIOFACIOCUTANEOUS SYNDROME 210GENOMICS_ENGLAND;UNIPROT
TgeneC1860991NOONAN SYNDROME 39CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0007131Non-Small Cell Lung Carcinoma7CGI;CTD_human
TgeneC0007102Malignant tumor of colon6CTD_human
TgeneC0009375Colonic Neoplasms6CTD_human
TgeneC0030297Pancreatic Neoplasm6CGI;CTD_human
TgeneC0346647Malignant neoplasm of pancreas6CGI;CTD_human
TgeneC0027659Neoplasms, Experimental5CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)5CGI;CTD_human
TgeneC0001430Adenoma4CTD_human
TgeneC0018923Hemangiosarcoma4CGI;CTD_human
TgeneC0041409Turner Syndrome, Male4CTD_human
TgeneC0205646Adenoma, Basal Cell4CTD_human
TgeneC0205647Follicular adenoma4CTD_human
TgeneC0205648Adenoma, Microcystic4CTD_human
TgeneC0205649Adenoma, Monomorphic4CTD_human
TgeneC0205650Papillary adenoma4CTD_human
TgeneC0205651Adenoma, Trabecular4CTD_human
TgeneC0238463Papillary thyroid carcinoma4ORPHANET
TgeneC0349639Juvenile Myelomonocytic Leukemia4CTD_human;ORPHANET;UNIPROT
TgeneC0587248Costello syndrome (disorder)4CLINGEN;CTD_human
TgeneC1519086Pilomyxoid astrocytoma4ORPHANET
TgeneC1527404Female Pseudo-Turner Syndrome4CTD_human
TgeneC4551602Noonan Syndrome 14CTD_human
TgeneC0001418Adenocarcinoma3CTD_human
TgeneC0009402Colorectal Carcinoma3CTD_human;UNIPROT
TgeneC0009404Colorectal Neoplasms3CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell3CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic3CTD_human
TgeneC0205643Carcinoma, Cribriform3CTD_human
TgeneC0205644Carcinoma, Granular Cell3CTD_human
TgeneC0205645Adenocarcinoma, Tubular3CTD_human
TgeneC0699791Stomach Carcinoma3UNIPROT
TgeneC0006826Malignant Neoplasms2CGI;CTD_human
TgeneC0007097Carcinoma2CTD_human
TgeneC0007137Squamous cell carcinoma2CTD_human
TgeneC0023903Liver neoplasms2CTD_human
TgeneC0024623Malignant neoplasm of stomach2CTD_human
TgeneC0027651Neoplasms2CTD_human
TgeneC0038356Stomach Neoplasms2CTD_human
TgeneC0086692Benign Neoplasm2CTD_human
TgeneC0205696Anaplastic carcinoma2CTD_human
TgeneC0205697Carcinoma, Spindle-Cell2CTD_human
TgeneC0205698Undifferentiated carcinoma2CTD_human
TgeneC0205699Carcinomatosis2CTD_human
TgeneC0206698Cholangiocarcinoma2CTD_human
TgeneC0345904Malignant neoplasm of liver2CTD_human
TgeneC0345905Intrahepatic Cholangiocarcinoma2CTD_human
TgeneC0596263Carcinogenesis2CTD_human
TgeneC0887833Carcinoma, Pancreatic Ductal2CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer2CTD_human
TgeneC2239176Liver carcinoma2CTD_human
TgeneC2674723RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER2GENOMICS_ENGLAND;ORPHANET
TgeneC3805278Extrahepatic Cholangiocarcinoma2CTD_human
TgeneC0002871Anemia1CTD_human
TgeneC0004114Astrocytoma1CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human;UNIPROT
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0007528Cecal Neoplasms1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0014175Endometriosis1CTD_human
TgeneC0016978gallbladder neoplasm1CTD_human
TgeneC0019207Hepatoma, Morris1CTD_human
TgeneC0019208Hepatoma, Novikoff1CTD_human
TgeneC0023518Leukocytosis1CTD_human
TgeneC0023897Liver Diseases, Parasitic1CTD_human
TgeneC0023904Liver Neoplasms, Experimental1CTD_human
TgeneC0024299Lymphoma1CTD_human
TgeneC0026640Mouth Neoplasms1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0027819Neuroblastoma1CTD_human
TgeneC0030849Penile Neoplasms1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0038002Splenomegaly1CTD_human
TgeneC0040136Thyroid Neoplasm1CGI;CTD_human
TgeneC0042138Uterine Neoplasms1CTD_human
TgeneC0086404Experimental Hepatoma1CTD_human
TgeneC0087031Juvenile-Onset Still Disease1CTD_human
TgeneC0151468Thyroid Gland Follicular Adenoma1CTD_human
TgeneC0151857Pleocytosis1CTD_human
TgeneC0153381Malignant neoplasm of mouth1CTD_human
TgeneC0153437Malignant neoplasm of cecum1CTD_human
TgeneC0153452Malignant neoplasm of gallbladder1CTD_human
TgeneC0153567Uterine Cancer1CTD_human
TgeneC0153601Malignant neoplasm of penis1CTD_human
TgeneC0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneC0206682Follicular thyroid carcinoma1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0265329Organoid Nevus Phakomatosis1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0269102Endometrioma1CTD_human
TgeneC0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneC0280785Diffuse Astrocytoma1CTD_human
TgeneC0334579Anaplastic astrocytoma1CTD_human
TgeneC0334580Protoplasmic astrocytoma1CTD_human
TgeneC0334581Gemistocytic astrocytoma1CTD_human
TgeneC0334582Fibrillary Astrocytoma1CTD_human
TgeneC0334583Pilocytic Astrocytoma1CGI;CTD_human
TgeneC0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneC0362030Verrucous epidermal nevus1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0406612Encephalocraniocutaneous lipomatosis1ORPHANET
TgeneC0473574Inflammatory linear verrucous epidermal nevus1CTD_human
TgeneC0547065Mixed oligoastrocytoma1CTD_human
TgeneC0549473Thyroid carcinoma1CGI;CTD_human
TgeneC0750935Cerebral Astrocytoma1CTD_human
TgeneC0750936Intracranial Astrocytoma1CTD_human
TgeneC0919267ovarian neoplasm1CGI;CTD_human
TgeneC1112155Hereditary non-polyposis colorectal cancer syndrome1ORPHANET
TgeneC1140680Malignant neoplasm of ovary1CGI;CTD_human
TgeneC1333990Hereditary Nonpolyposis Colorectal Cancer1ORPHANET
TgeneC1704230Grade I Astrocytoma1CTD_human
TgeneC1838329APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS1ORPHANET
TgeneC2713368Hematopoetic Myelodysplasia1CTD_human
TgeneC2931038Pancreatic carcinoma, familial1ORPHANET
TgeneC2931822Nasopharyngeal carcinoma1CTD_human
TgeneC3179502Linear Verrucous Epidermal Nevus1CTD_human
TgeneC3463824MYELODYSPLASTIC SYNDROME1CTD_human
TgeneC3495559Juvenile arthritis1CTD_human
TgeneC3539878Triple Negative Breast Neoplasms1CTD_human
TgeneC3714758Juvenile psoriatic arthritis1CTD_human
TgeneC3854181Nevus sebaceous1ORPHANET
TgeneC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneC4552097Nevus Sebaceus of Jadassohn1CTD_human;GENOMICS_ENGLAND
TgeneC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human