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Center for Computational Systems Medicine
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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-C7orf10 (FusionGDB2 ID:10116)

Fusion Gene Summary for BRAF-C7orf10

check button Fusion gene summary
Fusion gene informationFusion gene name: BRAF-C7orf10
Fusion gene ID: 10116
HgeneTgene
Gene symbol

BRAF

C7orf10

Gene ID

673

79783

Gene nameB-Raf proto-oncogene, serine/threonine kinasesuccinyl-CoA:glutarate-CoA transferase
SynonymsB-RAF1|B-raf|BRAF1|NS7|RAFB1C7orf10|DERP13|GA3|ORF19
Cytomap

7q34

7p14.1

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 succinate--hydroxymethylglutarate CoA-transferaseRussel-Silver syndrome candidatedermal papilla-derived protein 13succinylCoA:glutarate-CoA transferase
Modification date2020032920200313
UniProtAcc

P15056

.
Ensembl transtripts involved in fusion geneENST00000288602, ENST00000464028, 
ENST00000540834, ENST00000309930, 
ENST00000335693, ENST00000401647, 
Fusion gene scores* DoF score28 X 21 X 11=646813 X 14 X 14=2548
# samples 3224
** MAII scorelog2(32/6468*10)=-4.3371758685863
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(24/2548*10)=-3.40825896664778
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BRAF [Title/Abstract] AND C7orf10 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBRAF(140624366)-C7orf10(40789033), # samples:2
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


check buttonFusion gene breakpoints across BRAF (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 C7orf10 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4THCATCGA-FY-A40N-01ABRAFchr7

140624366

-C7orf10chr7

40789033

+


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Fusion Gene ORF analysis for BRAF-C7orf10

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-intronENST00000288602ENST00000464028BRAFchr7

140624366

-C7orf10chr7

40789033

+
5CDS-intronENST00000288602ENST00000540834BRAFchr7

140624366

-C7orf10chr7

40789033

+
In-frameENST00000288602ENST00000309930BRAFchr7

140624366

-C7orf10chr7

40789033

+
In-frameENST00000288602ENST00000335693BRAFchr7

140624366

-C7orf10chr7

40789033

+
In-frameENST00000288602ENST00000401647BRAFchr7

140624366

-C7orf10chr7

40789033

+

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)
ENST00000288602BRAFchr7140624366-ENST00000309930C7orf10chr740789033+70619961426121
ENST00000288602BRAFchr7140624366-ENST00000401647C7orf10chr740789033+57919961426121
ENST00000288602BRAFchr7140624366-ENST00000335693C7orf10chr740789033+71119961426121

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
ENST00000288602ENST00000309930BRAFchr7140624366-C7orf10chr740789033+0.0186304470.9813696
ENST00000288602ENST00000401647BRAFchr7140624366-C7orf10chr740789033+0.0127968180.9872032
ENST00000288602ENST00000335693BRAFchr7140624366-C7orf10chr740789033+0.0177380930.9822619

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Fusion Genomic Features for BRAF-C7orf10


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)
BRAFchr7140624365-C7orf10chr740789032+2.65E-101
BRAFchr7140624365-C7orf10chr740789032+2.65E-101

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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-C7orf10


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/chr7:140624366/chr7:40789033)
- 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

.
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: 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
HgeneBRAFchr7:140624366chr7:40789033ENST00000288602-1186_1146767.0Compositional biasNote=Poly-Gly

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBRAFchr7:140624366chr7:40789033ENST00000288602-118122_12946767.0Compositional biasNote=Poly-Ser
HgeneBRAFchr7:140624366chr7:40789033ENST00000288602-118428_43246767.0Compositional biasNote=Poly-Ser
HgeneBRAFchr7:140624366chr7:40789033ENST00000288602-118155_22746767.0DomainRBD
HgeneBRAFchr7:140624366chr7:40789033ENST00000288602-118457_71746767.0DomainProtein kinase
HgeneBRAFchr7:140624366chr7:40789033ENST00000288602-118463_47146767.0Nucleotide bindingATP
HgeneBRAFchr7:140624366chr7:40789033ENST00000288602-118234_28046767.0Zinc fingerPhorbol-ester/DAG-type


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Fusion Gene Sequence for BRAF-C7orf10


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.
>10116_10116_1_BRAF-C7orf10_BRAF_chr7_140624366_ENST00000288602_C7orf10_chr7_40789033_ENST00000309930_length(transcript)=706nt_BP=199nt
CGCCTCCCTTCCCCCTCCCCGCCCGACAGCGGCCGCTCGGGCCCCGGCTCTCGGTTATAAGATGGCGGCGCTGAGCGGTGGCGGTGGTGG
CGGCGCGGAGCCGGGCCAGGCTCTGTTCAACGGGGACATGGAGCCCGAGGCCGGCGCCGGCGCCGGCGCCGCGGCCTCTTCGGCTGCGGA
CCCTGCCATTCCGGAGGAGGTATTACACAATGGCCTCGTTATGGAGATGGAGCATCCAACTGTGGGGAAGATTTCCGTCCCAGGCCCAGC
TGTGAGATACAGTAAGTTCAAGATGTCAGAGGCCAGGCCGCCCCCGCTGCTCGGGCAGCACACAACGCACATCCTGAAGGAGGTCCTGAG
ATACGATGACAGGGCCATCGGGGAGCTGCTCAGCGCTGGAGTGGTGGACCAACATGAAACTCACTGACAAAGGAAAAGGGCTCTTCCTCA
TAACCTCGATCCGAATACACTGGCAAAGGCAACACTTTGCTTGGACCCTTCTCCCCAGTTCTGATACCACTAAAAAGAAGATTTAGAGTA
ACTCCAGATTTCTTACATGGCATCTCCAGAATGGCTCTGGTATTAATGAATCTAGTGCCTTTTAAATGTATCCCACGTTTTGTTCCCTAC

>10116_10116_1_BRAF-C7orf10_BRAF_chr7_140624366_ENST00000288602_C7orf10_chr7_40789033_ENST00000309930_length(amino acids)=121AA_BP=46
MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVLHNGLVMEMEHPTVGKISVPGPAVRYSKFKMSEARPPPLLGQH

--------------------------------------------------------------
>10116_10116_2_BRAF-C7orf10_BRAF_chr7_140624366_ENST00000288602_C7orf10_chr7_40789033_ENST00000335693_length(transcript)=711nt_BP=199nt
CGCCTCCCTTCCCCCTCCCCGCCCGACAGCGGCCGCTCGGGCCCCGGCTCTCGGTTATAAGATGGCGGCGCTGAGCGGTGGCGGTGGTGG
CGGCGCGGAGCCGGGCCAGGCTCTGTTCAACGGGGACATGGAGCCCGAGGCCGGCGCCGGCGCCGGCGCCGCGGCCTCTTCGGCTGCGGA
CCCTGCCATTCCGGAGGAGGTATTACACAATGGCCTCGTTATGGAGATGGAGCATCCAACTGTGGGGAAGATTTCCGTCCCAGGCCCAGC
TGTGAGATACAGTAAGTTCAAGATGTCAGAGGCCAGGCCGCCCCCGCTGCTCGGGCAGCACACAACGCACATCCTGAAGGAGGTCCTGAG
ATACGATGACAGGGCCATCGGGGAGCTGCTCAGCGCTGGAGTGGTGGACCAACATGAAACTCACTGACAAAGGAAAAGGGCTCTTCCTCA
TAACCTCGATCCGAATACACTGGCAAAGGCAACACTTTGCTTGGACCCTTCTCCCCAGTTCTGATACCACTAAAAAGAAGATTTAGAGTA
ACTCCAGATTTCTTACATGGCATCTCCAGAATGGCTCTGGTATTAATGAATCTAGTGCCTTTTAAATGTATCCCACGTTTTGTTCCCTAC

>10116_10116_2_BRAF-C7orf10_BRAF_chr7_140624366_ENST00000288602_C7orf10_chr7_40789033_ENST00000335693_length(amino acids)=121AA_BP=46
MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVLHNGLVMEMEHPTVGKISVPGPAVRYSKFKMSEARPPPLLGQH

--------------------------------------------------------------
>10116_10116_3_BRAF-C7orf10_BRAF_chr7_140624366_ENST00000288602_C7orf10_chr7_40789033_ENST00000401647_length(transcript)=579nt_BP=199nt
CGCCTCCCTTCCCCCTCCCCGCCCGACAGCGGCCGCTCGGGCCCCGGCTCTCGGTTATAAGATGGCGGCGCTGAGCGGTGGCGGTGGTGG
CGGCGCGGAGCCGGGCCAGGCTCTGTTCAACGGGGACATGGAGCCCGAGGCCGGCGCCGGCGCCGGCGCCGCGGCCTCTTCGGCTGCGGA
CCCTGCCATTCCGGAGGAGGTATTACACAATGGCCTCGTTATGGAGATGGAGCATCCAACTGTGGGGAAGATTTCCGTCCCAGGCCCAGC
TGTGAGATACAGTAAGTTCAAGATGTCAGAGGCCAGGCCGCCCCCGCTGCTCGGGCAGCACACAACGCACATCCTGAAGGAGGTCCTGAG
ATACGATGACAGGGCCATCGGGGAGCTGCTCAGCGCTGGAGTGGTGGACCAACATGAAACTCACTGACAAAGGAAAAGGGCTCTTCCTCA
TAACCTCGATCCGAATACACTGGCAAAGGCAACACTTTGCTTGGACCCTTCTCCCCAGTTCTGATACCACTAAAAAGAAGATTTAGAGTA

>10116_10116_3_BRAF-C7orf10_BRAF_chr7_140624366_ENST00000288602_C7orf10_chr7_40789033_ENST00000401647_length(amino acids)=121AA_BP=46
MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVLHNGLVMEMEHPTVGKISVPGPAVRYSKFKMSEARPPPLLGQH

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

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Fusion Gene PPI Analysis for BRAF-C7orf10


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-C7orf10


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 BRAF-C7orf10


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