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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 12488

FusionGeneSummary for FAM114A2_BRAF

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM114A2_BRAF
Fusion gene ID: 12488
HgeneTgene
Gene symbol

FAM114A2

BRAF

Gene ID

10827

673

Gene namefamily with sequence similarity 114 member A2B-Raf proto-oncogene, serine/threonine kinase
Synonyms133K02|C5orf3B-RAF1|B-raf|BRAF1|NS7|RAFB1
Cytomap

5q33.2

7q34

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM114A2testis tissue sperm-binding protein Li 81Pserine/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 date2018051920180527
UniProtAcc

Q9NRY5

P15056

Ensembl transtripts involved in fusion geneENST00000351797, ENST00000522858, 
ENST00000520667, ENST00000518946, 
ENST00000520313, 
ENST00000288602, 
Fusion gene scores* DoF score3 X 3 X 3=2724 X 11 X 10=2640
# samples 335
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(35/2640*10)=-2.91511110241349
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM114A2 [Title/Abstract] AND BRAF [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
* 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: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 from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVTHCATCGA-ET-A3BN-01AFAM114A2chr5

153390801

-BRAFchr7

140481493

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shitENST00000351797ENST00000288602FAM114A2chr5

153390801

-BRAFchr7

140481493

-
Frame-shitENST00000522858ENST00000288602FAM114A2chr5

153390801

-BRAFchr7

140481493

-
Frame-shitENST00000520667ENST00000288602FAM114A2chr5

153390801

-BRAFchr7

140481493

-
intron-3CDSENST00000518946ENST00000288602FAM114A2chr5

153390801

-BRAFchr7

140481493

-
Frame-shitENST00000520313ENST00000288602FAM114A2chr5

153390801

-BRAFchr7

140481493

-

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FusionProtFeatures for FAM114A2_BRAF


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM114A2

Q9NRY5

BRAF

P15056


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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FusionGeneSequence for FAM114A2_BRAF


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for FAM114A2_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
FAM114A2ELAVL1, COPS5, APP, TMEM51, CD274, KIR3DL1, SCN2B, EWSR1, KIR3DL2, EPHA1, LRRC4, CPNE5, TMEM206, SIGLECL1BRAFYWHAB, YWHAG, YWHAQ, YWHAZ, SFN, HRAS, AKT1, MAPK3, RAP1GAP, RAF1, MRAS, RAP1A, PAK2, TERF1, CCDC88A, NEDD4L, MAP2K1, RNF149, KSR1, BRAP, PRKCE, RPS6KB2, HSP90AA1, BRAF, YWHAE, HSPA5, MAP2K2, HSPA1A, HSPA8, YWHAH, HSPA9, ARAF, CDC37, HSP90AB1, PHKB, LIMK1, IQGAP1, MAPK1, BAD, LIPF, MUS81, FBXW7, FGFR2, BRCA2, VHL, FNTA, HDAC2, PIK3CA, EGFR, PTEN, FNIP1, FNIP2, RAB3GAP1, KRAS, KIAA0141, FKBPL, ARMCX3, KCNC4, RPTOR, CYLD, NRAS


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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RelatedDrugs for FAM114A2_BRAF


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneBRAFP15056DB08881VemurafenibSerine/threonine-protein kinase B-rafsmall moleculeapproved
TgeneBRAFP15056DB08896RegorafenibSerine/threonine-protein kinase B-rafsmall moleculeapproved
TgeneBRAFP15056DB00398SorafenibSerine/threonine-protein kinase B-rafsmall moleculeapproved|investigational
TgeneBRAFP15056DB08912DabrafenibSerine/threonine-protein kinase B-rafsmall moleculeapproved|investigational

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RelatedDiseases for FAM114A2_BRAF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneBRAFC0025202melanoma21CTD_human
TgeneBRAFC1527249Colorectal Cancer8UNIPROT
TgeneBRAFC1275081Cardio-facio-cutaneous syndrome6CTD_human;ORPHANET;UNIPROT
TgeneBRAFC0009404Colorectal Neoplasms4CTD_human
TgeneBRAFC0040136Thyroid Neoplasm4CTD_human
TgeneBRAFC0024305Lymphoma, Non-Hodgkin3UNIPROT
TgeneBRAFC0684249Carcinoma of lung3UNIPROT
TgeneBRAFC3150970NOONAN SYNDROME 73CTD_human;UNIPROT
TgeneBRAFC0152013Adenocarcinoma of lung (disorder)2CTD_human
TgeneBRAFC0002448Ameloblastoma1CTD_human
TgeneBRAFC0004114Astrocytoma1CTD_human
TgeneBRAFC0010276Craniopharyngioma1CTD_human;ORPHANET
TgeneBRAFC0017638Glioma1CTD_human
TgeneBRAFC0022665Kidney Neoplasm1CTD_human
TgeneBRAFC0023903Liver neoplasms1CTD_human
TgeneBRAFC0024694Mandibular Neoplasms1CTD_human
TgeneBRAFC0028326Noonan Syndrome1CTD_human;ORPHANET
TgeneBRAFC0033578Prostatic Neoplasms1CTD_human
TgeneBRAFC0036920Sezary Syndrome1CTD_human
TgeneBRAFC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
TgeneBRAFC0206686Adrenocortical carcinoma1CTD_human
TgeneBRAFC0206754Neuroendocrine Tumors1CTD_human
TgeneBRAFC0238463Papillary thyroid carcinoma1CTD_human;ORPHANET
TgeneBRAFC0587248Costello syndrome (disorder)1CTD_human
TgeneBRAFC0596263Carcinogenesis1CTD_human
TgeneBRAFC0920269Microsatellite Instability1CTD_human
TgeneBRAFC2239176Liver carcinoma1CTD_human