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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:BRAF-CUL1 (FusionGDB2 ID:HG673TG8454)

Fusion Gene Summary for BRAF-CUL1

check button Fusion gene summary
Fusion gene informationFusion gene name: BRAF-CUL1
Fusion gene ID: hg673tg8454
HgeneTgene
Gene symbol

BRAF

CUL1

Gene ID

673

8454

Gene nameB-Raf proto-oncogene, serine/threonine kinasecullin 1
SynonymsB-RAF1|B-raf|BRAF1|NS7|RAFB1-
Cytomap('BRAF')('CUL1')

7q34

7q36.1

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase B-raf94 kDa B-raf proteinB-Raf proto-oncogene serine/threonine-protein kinase (p94)B-Raf serine/threonine-proteinmurine sarcoma viral (v-raf) oncogene homolog B1proto-oncogene B-Rafv-raf murine sarcoma viral oncogene cullin-1CUL-1
Modification date2020032920200327
UniProtAcc

P15056

Q13616

Ensembl transtripts involved in fusion geneENST00000288602, 
Fusion gene scores* DoF score28 X 21 X 11=64687 X 9 X 4=252
# samples 3211
** MAII scorelog2(32/6468*10)=-4.3371758685863
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/252*10)=-1.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BRAF [Title/Abstract] AND CUL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBRAF(140549911)-CUL1(148427054), # samples:3
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
HgeneBRAF

GO:0000186

activation of MAPKK activity

29433126

HgeneBRAF

GO:0006468

protein phosphorylation

17563371

HgeneBRAF

GO:0010828

positive regulation of glucose transmembrane transport

23010278

HgeneBRAF

GO:0033138

positive regulation of peptidyl-serine phosphorylation

19667065

HgeneBRAF

GO:0043066

negative regulation of apoptotic process

19667065

HgeneBRAF

GO:0070374

positive regulation of ERK1 and ERK2 cascade

22065586

HgeneBRAF

GO:0071277

cellular response to calcium ion

18567582

HgeneBRAF

GO:0090150

establishment of protein localization to membrane

23010278

TgeneCUL1

GO:0016567

protein ubiquitination

15103331

TgeneCUL1

GO:0031146

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

15103331



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
ChimerDB4KIRPTCGA-5P-A9JZ-01ABRAFchr7

140549911

-CUL1chr7

148427054

+
ChimerDB4KIRPTCGA-5P-A9JZBRAFchr7

140549910

-CUL1chr7

148427053

+
ChimerDB4KIRPTCGA-5P-A9JZBRAFchr7

140549911

-CUL1chr7

148391242

+
ChimerDB4KIRPTCGA-5P-A9JZBRAFchr7

140549911

-CUL1chr7

148427054

+


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Fusion Gene ORF analysis for BRAF-CUL1

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
5CDS-5UTRENST00000288602ENST00000325222BRAFchr7

140549911

-CUL1chr7

148427054

+
5CDS-5UTRENST00000288602ENST00000325222BRAFchr7

140549910

-CUL1chr7

148427053

+
5CDS-5UTRENST00000288602ENST00000409469BRAFchr7

140549911

-CUL1chr7

148427054

+
5CDS-5UTRENST00000288602ENST00000409469BRAFchr7

140549910

-CUL1chr7

148427053

+
5CDS-5UTRENST00000288602ENST00000602748BRAFchr7

140549911

-CUL1chr7

148427054

+
5CDS-5UTRENST00000288602ENST00000602748BRAFchr7

140549910

-CUL1chr7

148427053

+
5CDS-intronENST00000288602ENST00000325222BRAFchr7

140549911

-CUL1chr7

148391242

+
5CDS-intronENST00000288602ENST00000409469BRAFchr7

140549911

-CUL1chr7

148391242

+
5CDS-intronENST00000288602ENST00000602748BRAFchr7

140549911

-CUL1chr7

148391242

+

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 BRAF-CUL1


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)
BRAFchr7140549910-CUL1chr7148427053+8.34E-070.99999917
BRAFchr7140549910-CUL1chr7148427053+8.34E-070.99999917
BRAFchr7140549910-CUL1chr7148427053+8.34E-070.99999917
BRAFchr7140549910-CUL1chr7148427053+8.34E-070.99999917


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for BRAF-CUL1


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/:140549911/:148427054)
- 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
BRAF

P15056

CUL1

Q13616

FUNCTION: Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). May play a role in the postsynaptic responses of hippocampal neurons (PubMed:1508179). {ECO:0000269|PubMed:1508179, ECO:0000269|PubMed:21441910, ECO:0000269|PubMed:29433126, ECO:0000305}.FUNCTION: Core component of multiple cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. SCF complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). In the SCF complex, serves as a rigid scaffold that organizes the SKP1-F-box protein and RBX1 subunits. May contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and exchange of the substrate recognition component is mediated by TIP120A/CAND1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signaling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC) directs ubiquitination of NFKBIB, NFKBIE, ATF4, SMAD3, SMAD4, CDC25A, FBXO5 and probably NFKB2. SCF(BTRC) and/or SCF(FBXW11) direct ubiquitination of CEP68 (PubMed:25704143, PubMed:25503564). SCF(SKP2) directs ubiquitination of phosphorylated CDKN1B/p27kip and is involved in regulation of G1/S transition. SCF(SKP2) directs ubiquitination of ORC1, CDT1, RBL2, ELF4, CDKN1A, RAG2, FOXO1A, and probably MYC and TAL1. SCF(FBXW7) directs ubiquitination of CCNE1, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1. SCF(FBXW2) directs ubiquitination of GCM1. SCF(FBXO32) directs ubiquitination of MYOD1. SCF(FBXO7) directs ubiquitination of BIRC2 and DLGAP5. SCF(FBXO33) directs ubiquitination of YBX1. SCF(FBXO1) directs ubiquitination of BCL6 and DTL but does not seem to direct ubiquitination of TP53. SCF(BTRC) mediates the ubiquitination of NFKBIA at 'Lys-21' and 'Lys-22'; the degradation frees the associated NFKB1-RELA dimer to translocate into the nucleus and to activate transcription. SCF(CCNF) directs ubiquitination of CCP110. SCF(FBXL3) and SCF(FBXL21) direct ubiquitination of CRY1 and CRY2. SCF(FBXO9) directs ubiquitination of TTI1 and TELO2. SCF(FBXO10) directs ubiquitination of BCL2. {ECO:0000269|PubMed:15531760, ECO:0000269|PubMed:15640526, ECO:0000269|PubMed:18644861, ECO:0000269|PubMed:19679664, ECO:0000269|PubMed:22113614, ECO:0000269|PubMed:22405651, ECO:0000269|PubMed:23263282, ECO:0000269|PubMed:23431138, ECO:0000269|PubMed:25503564, ECO:0000269|PubMed:25704143, ECO:0000269|PubMed:27565346, ECO:0000269|PubMed:9663463}.

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 BRAF-CUL1


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 BRAF-CUL1


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 BRAF-CUL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneBRAFP15056DB08881VemurafenibInhibitorSmall moleculeApproved
HgeneBRAFP15056DB08881VemurafenibInhibitorSmall moleculeApproved
HgeneBRAFP15056DB08881VemurafenibInhibitorSmall moleculeApproved
HgeneBRAFP15056DB08896RegorafenibInhibitorSmall moleculeApproved
HgeneBRAFP15056DB08896RegorafenibInhibitorSmall moleculeApproved
HgeneBRAFP15056DB08896RegorafenibInhibitorSmall moleculeApproved
HgeneBRAFP15056DB14840RipretinibInhibitorSmall moleculeApproved
HgeneBRAFP15056DB14840RipretinibInhibitorSmall moleculeApproved
HgeneBRAFP15056DB14840RipretinibInhibitorSmall moleculeApproved
HgeneBRAFP15056DB00398SorafenibInhibitorSmall moleculeApproved|Investigational
HgeneBRAFP15056DB00398SorafenibInhibitorSmall moleculeApproved|Investigational
HgeneBRAFP15056DB00398SorafenibInhibitorSmall moleculeApproved|Investigational
HgeneBRAFP15056DB08912DabrafenibAntagonist|InhibitorSmall moleculeApproved|Investigational
HgeneBRAFP15056DB08912DabrafenibAntagonist|InhibitorSmall moleculeApproved|Investigational
HgeneBRAFP15056DB08912DabrafenibAntagonist|InhibitorSmall moleculeApproved|Investigational
HgeneBRAFP15056DB11718EncorafenibInhibitorSmall moleculeApproved|Investigational
HgeneBRAFP15056DB11718EncorafenibInhibitorSmall moleculeApproved|Investigational
HgeneBRAFP15056DB11718EncorafenibInhibitorSmall moleculeApproved|Investigational
HgeneBRAFP15056DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneBRAFP15056DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneBRAFP15056DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for BRAF-CUL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBRAFC0025202melanoma24CGI;CTD_human;UNIPROT
HgeneBRAFC1275081Cardio-facio-cutaneous syndrome14CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneBRAFC0009402Colorectal Carcinoma8CTD_human;UNIPROT
HgeneBRAFC0028326Noonan Syndrome8CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneBRAFC0238463Papillary thyroid carcinoma8CTD_human;ORPHANET
HgeneBRAFC0040136Thyroid Neoplasm6CGI;CTD_human
HgeneBRAFC0151468Thyroid Gland Follicular Adenoma6CTD_human
HgeneBRAFC0175704LEOPARD Syndrome6CLINGEN;GENOMICS_ENGLAND
HgeneBRAFC0549473Thyroid carcinoma6CGI;CTD_human
HgeneBRAFC3150970NOONAN SYNDROME 75CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneBRAFC0009404Colorectal Neoplasms4CTD_human
HgeneBRAFC3150971LEOPARD SYNDROME 34CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneBRAFC1519086Pilomyxoid astrocytoma3ORPHANET
HgeneBRAFC0004565Melanoma, B162CTD_human
HgeneBRAFC0009075Melanoma, Cloudman S912CTD_human
HgeneBRAFC0018598Melanoma, Harding-Passey2CTD_human
HgeneBRAFC0023443Hairy Cell Leukemia2CGI;ORPHANET
HgeneBRAFC0025205Melanoma, Experimental2CTD_human
HgeneBRAFC0033578Prostatic Neoplasms2CTD_human
HgeneBRAFC0152013Adenocarcinoma of lung (disorder)2CGI;CTD_human
HgeneBRAFC0376358Malignant neoplasm of prostate2CTD_human
HgeneBRAFC0587248Costello syndrome (disorder)2CLINGEN;CTD_human
HgeneBRAFC3501843Nonmedullary Thyroid Carcinoma2CTD_human
HgeneBRAFC3501844Familial Nonmedullary Thyroid Cancer2CTD_human
HgeneBRAFC0002448Ameloblastoma1CTD_human
HgeneBRAFC0004114Astrocytoma1CTD_human
HgeneBRAFC0010276Craniopharyngioma1CTD_human;ORPHANET
HgeneBRAFC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneBRAFC0017638Glioma1CGI;CTD_human
HgeneBRAFC0019621Histiocytosis, Langerhans-Cell1CGI;ORPHANET
HgeneBRAFC0022665Kidney Neoplasm1CTD_human
HgeneBRAFC0023903Liver neoplasms1CTD_human
HgeneBRAFC0024232Lymphatic Metastasis1CTD_human
HgeneBRAFC0024694Mandibular Neoplasms1CTD_human
HgeneBRAFC0027659Neoplasms, Experimental1CTD_human
HgeneBRAFC0027962Melanocytic nevus1GENOMICS_ENGLAND
HgeneBRAFC0036920Sezary Syndrome1CTD_human
HgeneBRAFC0041409Turner Syndrome, Male1CTD_human
HgeneBRAFC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
HgeneBRAFC0205768Subependymal Giant Cell Astrocytoma1CTD_human
HgeneBRAFC0206686Adrenocortical carcinoma1CTD_human
HgeneBRAFC0206754Neuroendocrine Tumors1CTD_human
HgeneBRAFC0259783mixed gliomas1CTD_human
HgeneBRAFC0278875Adult Craniopharyngioma1CTD_human
HgeneBRAFC0280783Juvenile Pilocytic Astrocytoma1CTD_human
HgeneBRAFC0280785Diffuse Astrocytoma1CTD_human
HgeneBRAFC0334579Anaplastic astrocytoma1CGI;CTD_human
HgeneBRAFC0334580Protoplasmic astrocytoma1CTD_human
HgeneBRAFC0334581Gemistocytic astrocytoma1CTD_human
HgeneBRAFC0334582Fibrillary Astrocytoma1CTD_human
HgeneBRAFC0334583Pilocytic Astrocytoma1CGI;CTD_human
HgeneBRAFC0338070Childhood Cerebral Astrocytoma1CTD_human
HgeneBRAFC0345904Malignant neoplasm of liver1CTD_human
HgeneBRAFC0376407Granulomatous Slack Skin1CTD_human
HgeneBRAFC0406803Syringocystadenoma Papilliferum1GENOMICS_ENGLAND
HgeneBRAFC0431128Papillary craniopharyngioma1CTD_human
HgeneBRAFC0431129Adamantinous Craniopharyngioma1CTD_human
HgeneBRAFC0547065Mixed oligoastrocytoma1CTD_human
HgeneBRAFC0555198Malignant Glioma1CTD_human
HgeneBRAFC0596263Carcinogenesis1CTD_human
HgeneBRAFC0684249Carcinoma of lung1CGI;UNIPROT
HgeneBRAFC0740457Malignant neoplasm of kidney1CTD_human
HgeneBRAFC0750935Cerebral Astrocytoma1CTD_human
HgeneBRAFC0750936Intracranial Astrocytoma1CTD_human
HgeneBRAFC0751061Craniopharyngioma, Child1CTD_human
HgeneBRAFC0920269Microsatellite Instability1CTD_human
HgeneBRAFC1527404Female Pseudo-Turner Syndrome1CTD_human
HgeneBRAFC1704230Grade I Astrocytoma1CTD_human
HgeneBRAFC1721098Replication Error Phenotype1CTD_human
HgeneBRAFC2239176Liver carcinoma1CTD_human
HgeneBRAFC4551484Leopard Syndrome 11GENOMICS_ENGLAND
HgeneBRAFC4551602Noonan Syndrome 11CTD_human
HgeneBRAFC4721532Lymphoma, Non-Hodgkin, Familial1UNIPROT
HgeneBRAFC4733333familial non-medullary thyroid cancer1GENOMICS_ENGLAND
TgeneC0014518Toxic Epidermal Necrolysis1CTD_human
TgeneC0038325Stevens-Johnson Syndrome1CTD_human
TgeneC1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
TgeneC3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
TgeneC3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human