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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:C7orf73-BRAF (FusionGDB2 ID:12104)

Fusion Gene Summary for C7orf73-BRAF

check button Fusion gene summary
Fusion gene informationFusion gene name: C7orf73-BRAF
Fusion gene ID: 12104
HgeneTgene
Gene symbol

C7orf73

BRAF

Gene ID

647087

673

Gene nameshort transmembrane mitochondrial protein 1B-Raf proto-oncogene, serine/threonine kinase
SynonymsC7orf73|Mm47|PL-5283B-RAF1|B-raf|BRAF1|NS7|RAFB1
Cytomap

7q33

7q34

Type of geneprotein-codingprotein-coding
Descriptionshort transmembrane mitochondrial protein 1uncharacterized protein C7orf73serine/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 date2020031320200329
UniProtAcc.

P15056

Ensembl transtripts involved in fusion geneENST00000507606, ENST00000422968, 
ENST00000288602, 
Fusion gene scores* DoF score7 X 6 X 4=16848 X 58 X 16=44544
# samples 769
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(69/44544*10)=-6.0124909441832
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C7orf73 [Title/Abstract] AND BRAF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC7orf73(135357554)-BRAF(140487384), # 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
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 buttonFusion gene breakpoints across C7orf73 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

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
ChimerDB4PRADTCGA-EJ-A8FN-01AC7orf73chr7

135357554

-BRAFchr7

140487384

-


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Fusion Gene ORF analysis for C7orf73-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
In-frameENST00000507606ENST00000288602C7orf73chr7

135357554

-BRAFchr7

140487384

-
intron-3CDSENST00000422968ENST00000288602C7orf73chr7

135357554

-BRAFchr7

140487384

-

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)
ENST00000507606C7orf73chr7135357554-ENST00000288602BRAFchr7140487384-1407128591288409

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
ENST00000507606ENST00000288602C7orf73chr7135357554-BRAFchr7140487384-0.0008135910.99918646

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Fusion Genomic Features for C7orf73-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)

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.

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.

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Fusion Protein Features for C7orf73-BRAF


check button Go to

FGviewer for the breakpoints of chr7:135357554-chr7:140487384

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

P15056

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.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
HgeneC7orf73chr7:135357554chr7:140487384ENST00000507606-237_2323.048.0TransmembraneHelical
TgeneBRAFchr7:135357554chr7:140487384ENST00000288602718428_432380.0767.0Compositional biasNote=Poly-Ser
TgeneBRAFchr7:135357554chr7:140487384ENST00000288602718457_717380.0767.0DomainProtein kinase
TgeneBRAFchr7:135357554chr7:140487384ENST00000288602718463_471380.0767.0Nucleotide bindingATP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneBRAFchr7:135357554chr7:140487384ENST00000288602718122_129380.0767.0Compositional biasNote=Poly-Ser
TgeneBRAFchr7:135357554chr7:140487384ENST000002886027186_11380.0767.0Compositional biasNote=Poly-Gly
TgeneBRAFchr7:135357554chr7:140487384ENST00000288602718155_227380.0767.0DomainRBD
TgeneBRAFchr7:135357554chr7:140487384ENST00000288602718234_280380.0767.0Zinc fingerPhorbol-ester/DAG-type


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Fusion Gene Sequence for C7orf73-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.
>In-frame_ENST00000507606_ENST00000288602_TCGA-EJ-A8FN-01A_C7orf73_chr7_135357554_-_BRAF_chr7_140487384_length(transcript)=1407nt_BP=128nt
GACCGGCCCGCGGAGCTGCTGCAGTCCTTCGCGCCCTCCTCGCCCTCCCCACCGACATCATGCTCCAGTTCCTGCTTGGATTTACACTGG
GCAACGTGGTTGGAATGTATCTGGCTCAGAACTATGATGACTTGATTAGAGACCAAGGATTTCGTGGTGATGGAGGATCAACCACAGGTT
TGTCTGCTACCCCCCCTGCCTCATTACCTGGCTCACTAACTAACGTGAAAGCCTTACAGAAATCTCCAGGACCTCAGCGAGAAAGGAAGT
CATCTTCATCCTCAGAAGACAGGAATCGAATGAAAACACTTGGTAGACGGGACTCGAGTGATGATTGGGAGATTCCTGATGGGCAGATTA
CAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAGTCTACAAGGGAAAGTGGCATGGTGATGTGGCAGTGAAAATGTTGAATGTGA
CAGCACCTACACCTCAGCAGTTACAAGCCTTCAAAAATGAAGTAGGAGTACTCAGGAAAACACGACATGTGAATATCCTACTCTTCATGG
GCTATTCCACAAAGCCACAACTGGCTATTGTTACCCAGTGGTGTGAGGGCTCCAGCTTGTATCACCATCTCCATATCATTGAGACCAAAT
TTGAGATGATCAAACTTATAGATATTGCACGACAGACTGCACAGGGCATGGATTACTTACACGCCAAGTCAATCATCCACAGAGACCTCA
AGAGTAATAATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTACAGTGAAATCTCGATGGAGTGGGTCCC
ATCAGTTTGAACAGTTGTCTGGATCCATTTTGTGGATGGCACCAGAAGTCATCAGAATGCAAGATAAAAATCCATACAGCTTTCAGTCAG
ATGTATATGCATTTGGAATTGTTCTGTATGAATTGATGACTGGACAGTTACCTTATTCAAACATCAACAACAGGGACCAGATAATTTTTA
TGGTGGGACGAGGATACCTGTCTCCAGATCTCAGTAAGGTACGGAGTAACTGTCCAAAAGCCATGAAGAGATTAATGGCAGAGTGCCTCA
AAAAGAAAAGAGATGAGAGACCACTCTTTCCCCAAATTCTCGCCTCTATTGAGCTGCTGGCCCGCTCATTGCCAAAAATTCACCGCAGTG
CATCAGAACCCTCCTTGAATCGGGCTGGTTTCCAAACAGAGGATTTTAGTCTATATGCTTGTGCTTCTCCAAAAACACCCATCCAGGCAG
GGGGATATGGTGCGTTTCCTGTCCACTGAAACAAATGAGTGAGAGAGTTCAGGAGAGTAGCAACAAAAGGAAAATAAATGAACATATGTT

>In-frame_ENST00000507606_ENST00000288602_TCGA-EJ-A8FN-01A_C7orf73_chr7_135357554_-_BRAF_chr7_140487384_length(amino acids)=409AA_start in transcript=59_stop in transcript=1288
MLQFLLGFTLGNVVGMYLAQNYDDLIRDQGFRGDGGSTTGLSATPPASLPGSLTNVKALQKSPGPQRERKSSSSSEDRNRMKTLGRRDSS
DDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDVAVKMLNVTAPTPQQLQAFKNEVGVLRKTRHVNILLFMGYSTKPQLAIVTQWCEGSSL
YHHLHIIETKFEMIKLIDIARQTAQGMDYLHAKSIIHRDLKSNNIFLHEDLTVKIGDFGLATVKSRWSGSHQFEQLSGSILWMAPEVIRM
QDKNPYSFQSDVYAFGIVLYELMTGQLPYSNINNRDQIIFMVGRGYLSPDLSKVRSNCPKAMKRLMAECLKKKRDERPLFPQILASIELL

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Fusion Gene PPI Analysis for C7orf73-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


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Related Drugs for C7orf73-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

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Related Diseases for C7orf73-BRAF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneBRAFC0025202melanoma24CGI;CTD_human;UNIPROT
TgeneBRAFC1275081Cardio-facio-cutaneous syndrome14CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneBRAFC0009402Colorectal Carcinoma8CTD_human;UNIPROT
TgeneBRAFC0028326Noonan Syndrome8CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneBRAFC0238463Papillary thyroid carcinoma8CTD_human;ORPHANET
TgeneBRAFC0040136Thyroid Neoplasm6CGI;CTD_human
TgeneBRAFC0151468Thyroid Gland Follicular Adenoma6CTD_human
TgeneBRAFC0175704LEOPARD Syndrome6CLINGEN;GENOMICS_ENGLAND
TgeneBRAFC0549473Thyroid carcinoma6CGI;CTD_human
TgeneBRAFC3150970NOONAN SYNDROME 75CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneBRAFC0009404Colorectal Neoplasms4CTD_human
TgeneBRAFC3150971LEOPARD SYNDROME 34CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneBRAFC1519086Pilomyxoid astrocytoma3ORPHANET
TgeneBRAFC0004565Melanoma, B162CTD_human
TgeneBRAFC0009075Melanoma, Cloudman S912CTD_human
TgeneBRAFC0018598Melanoma, Harding-Passey2CTD_human
TgeneBRAFC0023443Hairy Cell Leukemia2CGI;ORPHANET
TgeneBRAFC0025205Melanoma, Experimental2CTD_human
TgeneBRAFC0033578Prostatic Neoplasms2CTD_human
TgeneBRAFC0152013Adenocarcinoma of lung (disorder)2CGI;CTD_human
TgeneBRAFC0376358Malignant neoplasm of prostate2CTD_human
TgeneBRAFC0587248Costello syndrome (disorder)2CLINGEN;CTD_human
TgeneBRAFC3501843Nonmedullary Thyroid Carcinoma2CTD_human
TgeneBRAFC3501844Familial Nonmedullary Thyroid Cancer2CTD_human
TgeneBRAFC0002448Ameloblastoma1CTD_human
TgeneBRAFC0004114Astrocytoma1CTD_human
TgeneBRAFC0010276Craniopharyngioma1CTD_human;ORPHANET
TgeneBRAFC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneBRAFC0017638Glioma1CGI;CTD_human
TgeneBRAFC0019621Histiocytosis, Langerhans-Cell1CGI;ORPHANET
TgeneBRAFC0022665Kidney Neoplasm1CTD_human
TgeneBRAFC0023903Liver neoplasms1CTD_human
TgeneBRAFC0024232Lymphatic Metastasis1CTD_human
TgeneBRAFC0024694Mandibular Neoplasms1CTD_human
TgeneBRAFC0027659Neoplasms, Experimental1CTD_human
TgeneBRAFC0027962Melanocytic nevus1GENOMICS_ENGLAND
TgeneBRAFC0036920Sezary Syndrome1CTD_human
TgeneBRAFC0041409Turner Syndrome, Male1CTD_human
TgeneBRAFC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
TgeneBRAFC0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneBRAFC0206686Adrenocortical carcinoma1CTD_human
TgeneBRAFC0206754Neuroendocrine Tumors1CTD_human
TgeneBRAFC0259783mixed gliomas1CTD_human
TgeneBRAFC0278875Adult Craniopharyngioma1CTD_human
TgeneBRAFC0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneBRAFC0280785Diffuse Astrocytoma1CTD_human
TgeneBRAFC0334579Anaplastic astrocytoma1CGI;CTD_human
TgeneBRAFC0334580Protoplasmic astrocytoma1CTD_human
TgeneBRAFC0334581Gemistocytic astrocytoma1CTD_human
TgeneBRAFC0334582Fibrillary Astrocytoma1CTD_human
TgeneBRAFC0334583Pilocytic Astrocytoma1CGI;CTD_human
TgeneBRAFC0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneBRAFC0345904Malignant neoplasm of liver1CTD_human
TgeneBRAFC0376407Granulomatous Slack Skin1CTD_human
TgeneBRAFC0406803Syringocystadenoma Papilliferum1GENOMICS_ENGLAND
TgeneBRAFC0431128Papillary craniopharyngioma1CTD_human
TgeneBRAFC0431129Adamantinous Craniopharyngioma1CTD_human
TgeneBRAFC0547065Mixed oligoastrocytoma1CTD_human
TgeneBRAFC0555198Malignant Glioma1CTD_human
TgeneBRAFC0596263Carcinogenesis1CTD_human
TgeneBRAFC0684249Carcinoma of lung1CGI;UNIPROT
TgeneBRAFC0740457Malignant neoplasm of kidney1CTD_human
TgeneBRAFC0750935Cerebral Astrocytoma1CTD_human
TgeneBRAFC0750936Intracranial Astrocytoma1CTD_human
TgeneBRAFC0751061Craniopharyngioma, Child1CTD_human
TgeneBRAFC0920269Microsatellite Instability1CTD_human
TgeneBRAFC1527404Female Pseudo-Turner Syndrome1CTD_human
TgeneBRAFC1704230Grade I Astrocytoma1CTD_human
TgeneBRAFC1721098Replication Error Phenotype1CTD_human
TgeneBRAFC2239176Liver carcinoma1CTD_human
TgeneBRAFC4551484Leopard Syndrome 11GENOMICS_ENGLAND
TgeneBRAFC4551602Noonan Syndrome 11CTD_human
TgeneBRAFC4721532Lymphoma, Non-Hodgkin, Familial1UNIPROT
TgeneBRAFC4733333familial non-medullary thyroid cancer1GENOMICS_ENGLAND