Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:GNAI1-BRAF (FusionGDB2 ID:HG2770TG673)

Fusion Gene Summary for GNAI1-BRAF

check button Fusion gene summary
Fusion gene informationFusion gene name: GNAI1-BRAF
Fusion gene ID: hg2770tg673
HgeneTgene
Gene symbol

GNAI1

BRAF

Gene ID

2770

673

Gene nameG protein subunit alpha i1B-Raf proto-oncogene, serine/threonine kinase
SynonymsGiB-RAF1|B-raf|BRAF1|NS7|RAFB1
Cytomap('GNAI1')('BRAF')

7q21.11

7q34

Type of geneprotein-codingprotein-coding
Descriptionguanine nucleotide-binding protein G(i) subunit alpha-1Gi1 protein alpha subunitadenylate cyclase-inhibiting G alpha proteinguanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1serine/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
Modification date2020032920200329
UniProtAcc

P63096

P15056

Ensembl transtripts involved in fusion geneENST00000490206, ENST00000351004, 
ENST00000457358, 
Fusion gene scores* DoF score2 X 2 X 2=848 X 58 X 16=44544
# samples 269
** MAII scorelog2(2/8*10)=1.32192809488736log2(69/44544*10)=-6.0124909441832
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GNAI1 [Title/Abstract] AND BRAF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint
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
TgeneBRAF

GO:0000186

activation of MAPKK activity

29433126

TgeneBRAF

GO:0006468

protein phosphorylation

17563371

TgeneBRAF

GO:0010828

positive regulation of glucose transmembrane transport

23010278

TgeneBRAF

GO:0033138

positive regulation of peptidyl-serine phosphorylation

19667065

TgeneBRAF

GO:0043066

negative regulation of apoptotic process

19667065

TgeneBRAF

GO:0070374

positive regulation of ERK1 and ERK2 cascade

22065586

TgeneBRAF

GO:0071277

cellular response to calcium ion

18567582

TgeneBRAF

GO:0090150

establishment of protein localization to membrane

23010278



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
ChimerKB3..GNAI1chr7

79764594

+BRAFchr7

140482957

-


Top

Fusion Gene ORF analysis for GNAI1-BRAF

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
3UTR-3CDSENST00000490206ENST00000288602GNAI1chr7

79764594

+BRAFchr7

140482957

-
In-frameENST00000351004ENST00000288602GNAI1chr7

79764594

+BRAFchr7

140482957

-
intron-3CDSENST00000457358ENST00000288602GNAI1chr7

79764594

+BRAFchr7

140482957

-

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)
ENST00000351004GNAI1chr779764594+ENST00000288602BRAFchr7140482957-17334911361614492

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

Top

Fusion Genomic Features for GNAI1-BRAF


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)


Top

Fusion Protein Features for GNAI1-BRAF


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:/chr7:)
- 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
GNAI1

P63096

BRAF

P15056

FUNCTION: Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins (PubMed:8774883, PubMed:18434541). Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels (By similarity). The inactive GDP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. Required for normal cytokinesis during mitosis (PubMed:17635935). Required for cortical dynein-dynactin complex recruitment during metaphase (PubMed:22327364). {ECO:0000250|UniProtKB:P10824, ECO:0000269|PubMed:17635935, ECO:0000269|PubMed:18434541, ECO:0000269|PubMed:22327364, ECO:0000269|PubMed:8774883}.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}.

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


Top

Fusion Gene Sequence for GNAI1-BRAF


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.
>33555_33555_1_GNAI1-BRAF_GNAI1_chr7_79764594_ENST00000351004_BRAF_chr7_140482957_ENST00000288602_length(transcript)=1733nt_BP=491nt
GGAGGGGCGGGCAGGGGCGGGGCCGCGGCGGCGCGCGGAGGCCGAGCTCGGCTGGGCTTGGCGAGGCTGCGGCGCGGCCACCGGCGGGAG
TGCAGCGGCCACTGTACCCAGAGATTCAAAACCCCAAACCCGGGACTTGGGGGCGCTGAGCCGGGCCGGGAAGCAGAGCCTGGTCGTGAG
GAACAGCCGCCCGTTGCTGTCTGCCCCTTTGCGGACAGCGTCTCCCTCGACTCCGCTTAGGAAGTGGTGGGGGCGGCGTGGCCCCCGTCG
GGAGGCGTTCGAACGCCCGCTAGGAGAGAGAAAGGATTCCCCTGTGCTTGGAGCCCGCACTCGGGCGCGGAGGGAGCGGCGGCAGGCTCT
CGCTTTCGGCACCATGGGCTGCACGCTGAGCGCCGAGGACAAGGCGGCGGTGGAGCGGAGTAAGATGATCGACCGCAACCTCCGTGAGGA
CGGCGAGAAGGCGGCGCGCGAGGTCAAGCTGCTGCTGCTCGGATCAACCACAGGTTTGTCTGCTACCCCCCCTGCCTCATTACCTGGCTC
ACTAACTAACGTGAAAGCCTTACAGAAATCTCCAGGACCTCAGCGAGAAAGGAAGTCATCTTCATCCTCAGAAGACAGGAATCGAATGAA
AACACTTGGTAGACGGGACTCGAGTGATGATTGGGAGATTCCTGATGGGCAGATTACAGTGGGACAAAGAATTGGATCTGGATCATTTGG
AACAGTCTACAAGGGAAAGTGGCATGGTGATGTGGCAGTGAAAATGTTGAATGTGACAGCACCTACACCTCAGCAGTTACAAGCCTTCAA
AAATGAAGTAGGAGTACTCAGGAAAACACGACATGTGAATATCCTACTCTTCATGGGCTATTCCACAAAGCCACAACTGGCTATTGTTAC
CCAGTGGTGTGAGGGCTCCAGCTTGTATCACCATCTCCATATCATTGAGACCAAATTTGAGATGATCAAACTTATAGATATTGCACGACA
GACTGCACAGGGCATGGATTACTTACACGCCAAGTCAATCATCCACAGAGACCTCAAGAGTAATAATATATTTCTTCATGAAGACCTCAC
AGTAAAAATAGGTGATTTTGGTCTAGCTACAGTGAAATCTCGATGGAGTGGGTCCCATCAGTTTGAACAGTTGTCTGGATCCATTTTGTG
GATGGCACCAGAAGTCATCAGAATGCAAGATAAAAATCCATACAGCTTTCAGTCAGATGTATATGCATTTGGAATTGTTCTGTATGAATT
GATGACTGGACAGTTACCTTATTCAAACATCAACAACAGGGACCAGATAATTTTTATGGTGGGACGAGGATACCTGTCTCCAGATCTCAG
TAAGGTACGGAGTAACTGTCCAAAAGCCATGAAGAGATTAATGGCAGAGTGCCTCAAAAAGAAAAGAGATGAGAGACCACTCTTTCCCCA
AATTCTCGCCTCTATTGAGCTGCTGGCCCGCTCATTGCCAAAAATTCACCGCAGTGCATCAGAACCCTCCTTGAATCGGGCTGGTTTCCA
AACAGAGGATTTTAGTCTATATGCTTGTGCTTCTCCAAAAACACCCATCCAGGCAGGGGGATATGGTGCGTTTCCTGTCCACTGAAACAA
ATGAGTGAGAGAGTTCAGGAGAGTAGCAACAAAAGGAAAATAAATGAACATATGTTTGCTTATATGTTAAATTGAATAAAATACTCTCTT

>33555_33555_1_GNAI1-BRAF_GNAI1_chr7_79764594_ENST00000351004_BRAF_chr7_140482957_ENST00000288602_length(amino acids)=492AA_BP=117
MGALSRAGKQSLVVRNSRPLLSAPLRTASPSTPLRKWWGRRGPRREAFERPLGERKDSPVLGARTRARRERRQALAFGTMGCTLSAEDKA
AVERSKMIDRNLREDGEKAAREVKLLLLGSTTGLSATPPASLPGSLTNVKALQKSPGPQRERKSSSSSEDRNRMKTLGRRDSSDDWEIPD
GQITVGQRIGSGSFGTVYKGKWHGDVAVKMLNVTAPTPQQLQAFKNEVGVLRKTRHVNILLFMGYSTKPQLAIVTQWCEGSSLYHHLHII
ETKFEMIKLIDIARQTAQGMDYLHAKSIIHRDLKSNNIFLHEDLTVKIGDFGLATVKSRWSGSHQFEQLSGSILWMAPEVIRMQDKNPYS
FQSDVYAFGIVLYELMTGQLPYSNINNRDQIIFMVGRGYLSPDLSKVRSNCPKAMKRLMAECLKKKRDERPLFPQILASIELLARSLPKI

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

Top

Fusion Gene PPI Analysis for GNAI1-BRAF


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


Top

Related Drugs for GNAI1-BRAF


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneBRAFP15056DB08881VemurafenibInhibitorSmall moleculeApproved
TgeneBRAFP15056DB08881VemurafenibInhibitorSmall moleculeApproved
TgeneBRAFP15056DB08881VemurafenibInhibitorSmall moleculeApproved
TgeneBRAFP15056DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneBRAFP15056DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneBRAFP15056DB08896RegorafenibInhibitorSmall moleculeApproved
TgeneBRAFP15056DB14840RipretinibInhibitorSmall moleculeApproved
TgeneBRAFP15056DB14840RipretinibInhibitorSmall moleculeApproved
TgeneBRAFP15056DB14840RipretinibInhibitorSmall moleculeApproved
TgeneBRAFP15056DB00398SorafenibInhibitorSmall moleculeApproved|Investigational
TgeneBRAFP15056DB00398SorafenibInhibitorSmall moleculeApproved|Investigational
TgeneBRAFP15056DB00398SorafenibInhibitorSmall moleculeApproved|Investigational
TgeneBRAFP15056DB08912DabrafenibAntagonist|InhibitorSmall moleculeApproved|Investigational
TgeneBRAFP15056DB08912DabrafenibAntagonist|InhibitorSmall moleculeApproved|Investigational
TgeneBRAFP15056DB08912DabrafenibAntagonist|InhibitorSmall moleculeApproved|Investigational
TgeneBRAFP15056DB11718EncorafenibInhibitorSmall moleculeApproved|Investigational
TgeneBRAFP15056DB11718EncorafenibInhibitorSmall moleculeApproved|Investigational
TgeneBRAFP15056DB11718EncorafenibInhibitorSmall moleculeApproved|Investigational
TgeneBRAFP15056DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneBRAFP15056DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneBRAFP15056DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

Top

Related Diseases for GNAI1-BRAF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGNAI1C0002622Amnesia1CTD_human
HgeneGNAI1C0038587Substance Withdrawal Syndrome1CTD_human
HgeneGNAI1C0086189Drug Withdrawal Symptoms1CTD_human
HgeneGNAI1C0087169Withdrawal Symptoms1CTD_human
HgeneGNAI1C0233750Hysterical amnesia1CTD_human
HgeneGNAI1C0233796Temporary Amnesia1CTD_human
HgeneGNAI1C0236795Dissociative Amnesia1CTD_human
HgeneGNAI1C0262497Global Amnesia1CTD_human
HgeneGNAI1C0750906Tactile Amnesia1CTD_human
HgeneGNAI1C0750907Amnestic State1CTD_human
TgeneC0025202melanoma24CGI;CTD_human;UNIPROT
TgeneC1275081Cardio-facio-cutaneous syndrome14CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0009402Colorectal Carcinoma8CTD_human;UNIPROT
TgeneC0028326Noonan Syndrome8CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0238463Papillary thyroid carcinoma8CTD_human;ORPHANET
TgeneC0040136Thyroid Neoplasm6CGI;CTD_human
TgeneC0151468Thyroid Gland Follicular Adenoma6CTD_human
TgeneC0175704LEOPARD Syndrome6CLINGEN;GENOMICS_ENGLAND
TgeneC0549473Thyroid carcinoma6CGI;CTD_human
TgeneC3150970NOONAN SYNDROME 75CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0009404Colorectal Neoplasms4CTD_human
TgeneC3150971LEOPARD SYNDROME 34CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1519086Pilomyxoid astrocytoma3ORPHANET
TgeneC0004565Melanoma, B162CTD_human
TgeneC0009075Melanoma, Cloudman S912CTD_human
TgeneC0018598Melanoma, Harding-Passey2CTD_human
TgeneC0023443Hairy Cell Leukemia2CGI;ORPHANET
TgeneC0025205Melanoma, Experimental2CTD_human
TgeneC0033578Prostatic Neoplasms2CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)2CGI;CTD_human
TgeneC0376358Malignant neoplasm of prostate2CTD_human
TgeneC0587248Costello syndrome (disorder)2CLINGEN;CTD_human
TgeneC3501843Nonmedullary Thyroid Carcinoma2CTD_human
TgeneC3501844Familial Nonmedullary Thyroid Cancer2CTD_human
TgeneC0002448Ameloblastoma1CTD_human
TgeneC0004114Astrocytoma1CTD_human
TgeneC0010276Craniopharyngioma1CTD_human;ORPHANET
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0017638Glioma1CGI;CTD_human
TgeneC0019621Histiocytosis, Langerhans-Cell1CGI;ORPHANET
TgeneC0022665Kidney Neoplasm1CTD_human
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0024232Lymphatic Metastasis1CTD_human
TgeneC0024694Mandibular Neoplasms1CTD_human
TgeneC0027659Neoplasms, Experimental1CTD_human
TgeneC0027962Melanocytic nevus1GENOMICS_ENGLAND
TgeneC0036920Sezary Syndrome1CTD_human
TgeneC0041409Turner Syndrome, Male1CTD_human
TgeneC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
TgeneC0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneC0206686Adrenocortical carcinoma1CTD_human
TgeneC0206754Neuroendocrine Tumors1CTD_human
TgeneC0259783mixed gliomas1CTD_human
TgeneC0278875Adult Craniopharyngioma1CTD_human
TgeneC0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneC0280785Diffuse Astrocytoma1CTD_human
TgeneC0334579Anaplastic astrocytoma1CGI;CTD_human
TgeneC0334580Protoplasmic astrocytoma1CTD_human
TgeneC0334581Gemistocytic astrocytoma1CTD_human
TgeneC0334582Fibrillary Astrocytoma1CTD_human
TgeneC0334583Pilocytic Astrocytoma1CGI;CTD_human
TgeneC0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human
TgeneC0376407Granulomatous Slack Skin1CTD_human
TgeneC0406803Syringocystadenoma Papilliferum1GENOMICS_ENGLAND
TgeneC0431128Papillary craniopharyngioma1CTD_human
TgeneC0431129Adamantinous Craniopharyngioma1CTD_human
TgeneC0547065Mixed oligoastrocytoma1CTD_human
TgeneC0555198Malignant Glioma1CTD_human
TgeneC0596263Carcinogenesis1CTD_human
TgeneC0684249Carcinoma of lung1CGI;UNIPROT
TgeneC0740457Malignant neoplasm of kidney1CTD_human
TgeneC0750935Cerebral Astrocytoma1CTD_human
TgeneC0750936Intracranial Astrocytoma1CTD_human
TgeneC0751061Craniopharyngioma, Child1CTD_human
TgeneC0920269Microsatellite Instability1CTD_human
TgeneC1527404Female Pseudo-Turner Syndrome1CTD_human
TgeneC1704230Grade I Astrocytoma1CTD_human
TgeneC1721098Replication Error Phenotype1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC4551484Leopard Syndrome 11GENOMICS_ENGLAND
TgeneC4551602Noonan Syndrome 11CTD_human
TgeneC4721532Lymphoma, Non-Hodgkin, Familial1UNIPROT
TgeneC4733333familial non-medullary thyroid cancer1GENOMICS_ENGLAND