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Fusion Protein:BRAF-AP3B1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: BRAF-AP3B1 | FusionPDB ID: 10113 | FusionGDB2.0 ID: 10113 | Hgene | Tgene | Gene symbol | BRAF | AP3B1 | Gene ID | 673 | 8546 |
Gene name | B-Raf proto-oncogene, serine/threonine kinase | adaptor related protein complex 3 subunit beta 1 | |
Synonyms | B-RAF1|B-raf|BRAF1|NS7|RAFB1 | ADTB3|ADTB3A|HPS|HPS2|PE | |
Cytomap | 7q34 | 5q14.1 | |
Type of gene | protein-coding | protein-coding | |
Description | serine/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 | AP-3 complex subunit beta-1AP-3 complex beta-3A subunitadaptor protein complex AP-3 subunit beta-1adaptor related protein complex 3 beta 1 subunitbeta-3A-adaptinclathrin assembly protein complex 3 beta-1 large chain | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | P15056 | O00203 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000288602, | ENST00000523204, ENST00000255194, ENST00000519295, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 28 X 21 X 11=6468 | 11 X 11 X 6=726 |
# samples | 32 | 12 | |
** MAII score | log2(32/6468*10)=-4.3371758685863 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/726*10)=-2.59693514238723 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: BRAF [Title/Abstract] AND AP3B1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | BRAF(140494108)-AP3B1(77335098), # samples:3 AP3B1(77385217)-BRAF(140487384), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | AP3B1-BRAF seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. AP3B1-BRAF seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. BRAF-AP3B1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. BRAF-AP3B1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. BRAF-AP3B1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. BRAF-AP3B1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | BRAF | GO:0000186 | activation of MAPKK activity | 29433126 |
Hgene | BRAF | GO:0006468 | protein phosphorylation | 17563371 |
Hgene | BRAF | GO:0010828 | positive regulation of glucose transmembrane transport | 23010278 |
Hgene | BRAF | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19667065 |
Hgene | BRAF | GO:0043066 | negative regulation of apoptotic process | 19667065 |
Hgene | BRAF | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 22065586 |
Hgene | BRAF | GO:0071277 | cellular response to calcium ion | 18567582 |
Hgene | BRAF | GO:0090150 | establishment of protein localization to membrane | 23010278 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | THCA | TCGA-EL-A3T0-01A | BRAF | chr7 | 140494108 | - | AP3B1 | chr5 | 77335098 | - |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000288602 | BRAF | chr7 | 140494108 | - | ENST00000255194 | AP3B1 | chr5 | 77335098 | - | 4286 | 1201 | 61 | 1908 | 615 |
ENST00000288602 | BRAF | chr7 | 140494108 | - | ENST00000519295 | AP3B1 | chr5 | 77335098 | - | 2485 | 1201 | 61 | 1908 | 615 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000288602 | ENST00000255194 | BRAF | chr7 | 140494108 | - | AP3B1 | chr5 | 77335098 | - | 0.000224786 | 0.99977523 |
ENST00000288602 | ENST00000519295 | BRAF | chr7 | 140494108 | - | AP3B1 | chr5 | 77335098 | - | 0.000465621 | 0.99953437 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >10113_10113_1_BRAF-AP3B1_BRAF_chr7_140494108_ENST00000288602_AP3B1_chr5_77335098_ENST00000255194_length(amino acids)=615AA_BP=380 MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVWNIKQMIKLTQEHIEALLDKFGGEHNPPSIYLEAYEEYTSKLD ALQQREQQLLESLGNGTDFSVSSSASMDTVTSSSSSSLSVLPSSLSVFQNPTDVARSNPKSPQKPIVRVFLPNKQRTVVPARCGVTVRDS LKKALMMRGLIPECCAVYRIQDGEKKPIGWDTDISWLTGEELHVEVLENVPLTTHNFVRKTFFTLAFCDFCRKLLFQGFRCQTCGYKFHQ RCSTEVPLMCVNYDQLDLLFVSKFFEHHPIPQEEASLAETALTSGSSPSAPASDSIGPQILTSPSPSKSIPIPQPFRPADEDHRNQFGQR DRSSSAPNVHINTIEPVNIDVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMK MHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTP -------------------------------------------------------------- >10113_10113_2_BRAF-AP3B1_BRAF_chr7_140494108_ENST00000288602_AP3B1_chr5_77335098_ENST00000519295_length(amino acids)=615AA_BP=380 MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVWNIKQMIKLTQEHIEALLDKFGGEHNPPSIYLEAYEEYTSKLD ALQQREQQLLESLGNGTDFSVSSSASMDTVTSSSSSSLSVLPSSLSVFQNPTDVARSNPKSPQKPIVRVFLPNKQRTVVPARCGVTVRDS LKKALMMRGLIPECCAVYRIQDGEKKPIGWDTDISWLTGEELHVEVLENVPLTTHNFVRKTFFTLAFCDFCRKLLFQGFRCQTCGYKFHQ RCSTEVPLMCVNYDQLDLLFVSKFFEHHPIPQEEASLAETALTSGSSPSAPASDSIGPQILTSPSPSKSIPIPQPFRPADEDHRNQFGQR DRSSSAPNVHINTIEPVNIDVSTPAFVPTKTHVLLHRMSGKGLAAHYFFPRQPCIFGDKMVSIQITLNNTTDRKIENIHIGEKKLPIGMK MHVFNPIDSLEPEGSITVSMGIDFCDSTQTASFQLCTKDDCFNVNIQPPVGELLLPVAMSEKDFKKEQGVLTGMNETSAVIIAAPQNFTP -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr7:140494108/chr5:77335098) - 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. |
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Hgene | Tgene |
BRAF | AP3B1 |
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: Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. {ECO:0000305|PubMed:9151686}. |
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- Retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | BRAF | chr7:140494108 | chr5:77335098 | ENST00000288602 | - | 8 | 18 | 122_129 | 380.0 | 767.0 | Compositional bias | Note=Poly-Ser |
Hgene | BRAF | chr7:140494108 | chr5:77335098 | ENST00000288602 | - | 8 | 18 | 6_11 | 380.0 | 767.0 | Compositional bias | Note=Poly-Gly |
Hgene | BRAF | chr7:140494108 | chr5:77335098 | ENST00000288602 | - | 8 | 18 | 155_227 | 380.0 | 767.0 | Domain | RBD |
Hgene | BRAF | chr7:140494108 | chr5:77335098 | ENST00000288602 | - | 8 | 18 | 234_280 | 380.0 | 767.0 | Zinc finger | Phorbol-ester/DAG-type |
- Not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | BRAF | chr7:140494108 | chr5:77335098 | ENST00000288602 | - | 8 | 18 | 428_432 | 380.0 | 767.0 | Compositional bias | Note=Poly-Ser |
Hgene | BRAF | chr7:140494108 | chr5:77335098 | ENST00000288602 | - | 8 | 18 | 457_717 | 380.0 | 767.0 | Domain | Protein kinase |
Hgene | BRAF | chr7:140494108 | chr5:77335098 | ENST00000288602 | - | 8 | 18 | 463_471 | 380.0 | 767.0 | Nucleotide binding | ATP |
Tgene | AP3B1 | chr7:140494108 | chr5:77335098 | ENST00000255194 | 21 | 27 | 677_802 | 859.0 | 1095.0 | Compositional bias | Note=Glu/Ser-rich |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
BRAF | YWHAB, YWHAG, YWHAQ, YWHAZ, SFN, HRAS, AKT1, MAPK3, RAP1GAP, RAF1, MRAS, RAP1A, PAK2, TERF1, CCDC88A, NEDD4L, Nedd4, 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, Vps4b, FBXW7, FGFR2, BRCA2, VHL, FNTA, HDAC2, PIK3CA, EGFR, PTEN, FNIP1, FNIP2, RAB3GAP1, KRAS, KIAA0141, FKBPL, ARMCX3, KCNC4, RPTOR, CYLD, NRAS, HSPA4, DNAJB6, PDCD11, PIP5K1A, DNAJC15, VANGL1, DNAJC11, FKBP5, HSPA4L, HSP90B1, GNAI2, DNAJC13, GNAS, PPP2CB, HSD11B2, DNAJB11, PLD2, RAP1B, WDR6, CPNE3, MYOF, COPA, UBLCP1, PPP1CA, RAD50, PIP4K2C, PHB, VIM, PGAM1, DNAJA1, MAP2K7, SPRY2, ALDOA, AP2B1, ATP5A1, SSB, IGF1R, JUP, PPP6C, PARP1, HSPB1, NME2, PRDX2, CCT7, RAB1A, FARSA, FASN, EPRS, TRAF2, REST, KIAA1429, NANOG, ITCH, SMURF2, WWP1, WWP2, PPP2CA, PPP2R2A, AURKA, LATS2, MAP2K3, MAP2K6, RASSF1, STK11, TERT, PEBP1, CRBN, FAR1, PSMC4, UBA52, UBB, UBC, RPS27A, HSPA6, HSP90AB3P, DSP, ATAD3A, ATAD3B, P4HB, SDF2L1, SLC25A22, SPTBN4, TMEM33, CTSB, NCL, HPX, TXNDC12, SLC25A11, NDUFA4, CTSV, FBP1, HSD17B3, ZNF189, ZNF510, KIF14, SRC, TRAP1, JTB, S100P, USP28, |
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Gene | STRING network |
BRAF | ![]() |
AP3B1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to BRAF-AP3B1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to BRAF-AP3B1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BRAF | C0025202 | melanoma | 24 | CGI;CTD_human;UNIPROT |
Hgene | BRAF | C1275081 | Cardio-facio-cutaneous syndrome | 14 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | BRAF | C0009402 | Colorectal Carcinoma | 8 | CTD_human;UNIPROT |
Hgene | BRAF | C0028326 | Noonan Syndrome | 8 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | BRAF | C0238463 | Papillary thyroid carcinoma | 8 | CTD_human;ORPHANET |
Hgene | BRAF | C0040136 | Thyroid Neoplasm | 6 | CGI;CTD_human |
Hgene | BRAF | C0151468 | Thyroid Gland Follicular Adenoma | 6 | CTD_human |
Hgene | BRAF | C0175704 | LEOPARD Syndrome | 6 | CLINGEN;GENOMICS_ENGLAND |
Hgene | BRAF | C0549473 | Thyroid carcinoma | 6 | CGI;CTD_human |
Hgene | BRAF | C3150970 | NOONAN SYNDROME 7 | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BRAF | C0009404 | Colorectal Neoplasms | 4 | CTD_human |
Hgene | BRAF | C3150971 | LEOPARD SYNDROME 3 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BRAF | C1519086 | Pilomyxoid astrocytoma | 3 | ORPHANET |
Hgene | BRAF | C0004565 | Melanoma, B16 | 2 | CTD_human |
Hgene | BRAF | C0009075 | Melanoma, Cloudman S91 | 2 | CTD_human |
Hgene | BRAF | C0018598 | Melanoma, Harding-Passey | 2 | CTD_human |
Hgene | BRAF | C0023443 | Hairy Cell Leukemia | 2 | CGI;ORPHANET |
Hgene | BRAF | C0025205 | Melanoma, Experimental | 2 | CTD_human |
Hgene | BRAF | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
Hgene | BRAF | C0152013 | Adenocarcinoma of lung (disorder) | 2 | CGI;CTD_human |
Hgene | BRAF | C0376358 | Malignant neoplasm of prostate | 2 | CTD_human |
Hgene | BRAF | C0587248 | Costello syndrome (disorder) | 2 | CLINGEN;CTD_human |
Hgene | BRAF | C3501843 | Nonmedullary Thyroid Carcinoma | 2 | CTD_human |
Hgene | BRAF | C3501844 | Familial Nonmedullary Thyroid Cancer | 2 | CTD_human |
Hgene | BRAF | C0002448 | Ameloblastoma | 1 | CTD_human |
Hgene | BRAF | C0004114 | Astrocytoma | 1 | CTD_human |
Hgene | BRAF | C0010276 | Craniopharyngioma | 1 | CTD_human;ORPHANET |
Hgene | BRAF | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Hgene | BRAF | C0017638 | Glioma | 1 | CGI;CTD_human |
Hgene | BRAF | C0019621 | Histiocytosis, Langerhans-Cell | 1 | CGI;ORPHANET |
Hgene | BRAF | C0022665 | Kidney Neoplasm | 1 | CTD_human |
Hgene | BRAF | C0023903 | Liver neoplasms | 1 | CTD_human |
Hgene | BRAF | C0024232 | Lymphatic Metastasis | 1 | CTD_human |
Hgene | BRAF | C0024694 | Mandibular Neoplasms | 1 | CTD_human |
Hgene | BRAF | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
Hgene | BRAF | C0027962 | Melanocytic nevus | 1 | GENOMICS_ENGLAND |
Hgene | BRAF | C0036920 | Sezary Syndrome | 1 | CTD_human |
Hgene | BRAF | C0041409 | Turner Syndrome, Male | 1 | CTD_human |
Hgene | BRAF | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
Hgene | BRAF | C0205768 | Subependymal Giant Cell Astrocytoma | 1 | CTD_human |
Hgene | BRAF | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
Hgene | BRAF | C0206754 | Neuroendocrine Tumors | 1 | CTD_human |
Hgene | BRAF | C0259783 | mixed gliomas | 1 | CTD_human |
Hgene | BRAF | C0278875 | Adult Craniopharyngioma | 1 | CTD_human |
Hgene | BRAF | C0280783 | Juvenile Pilocytic Astrocytoma | 1 | CTD_human |
Hgene | BRAF | C0280785 | Diffuse Astrocytoma | 1 | CTD_human |
Hgene | BRAF | C0334579 | Anaplastic astrocytoma | 1 | CGI;CTD_human |
Hgene | BRAF | C0334580 | Protoplasmic astrocytoma | 1 | CTD_human |
Hgene | BRAF | C0334581 | Gemistocytic astrocytoma | 1 | CTD_human |
Hgene | BRAF | C0334582 | Fibrillary Astrocytoma | 1 | CTD_human |
Hgene | BRAF | C0334583 | Pilocytic Astrocytoma | 1 | CGI;CTD_human |
Hgene | BRAF | C0338070 | Childhood Cerebral Astrocytoma | 1 | CTD_human |
Hgene | BRAF | C0345904 | Malignant neoplasm of liver | 1 | CTD_human |
Hgene | BRAF | C0376407 | Granulomatous Slack Skin | 1 | CTD_human |
Hgene | BRAF | C0406803 | Syringocystadenoma Papilliferum | 1 | GENOMICS_ENGLAND |
Hgene | BRAF | C0431128 | Papillary craniopharyngioma | 1 | CTD_human |
Hgene | BRAF | C0431129 | Adamantinous Craniopharyngioma | 1 | CTD_human |
Hgene | BRAF | C0547065 | Mixed oligoastrocytoma | 1 | CTD_human |
Hgene | BRAF | C0555198 | Malignant Glioma | 1 | CTD_human |
Hgene | BRAF | C0596263 | Carcinogenesis | 1 | CTD_human |
Hgene | BRAF | C0684249 | Carcinoma of lung | 1 | CGI;UNIPROT |
Hgene | BRAF | C0740457 | Malignant neoplasm of kidney | 1 | CTD_human |
Hgene | BRAF | C0750935 | Cerebral Astrocytoma | 1 | CTD_human |
Hgene | BRAF | C0750936 | Intracranial Astrocytoma | 1 | CTD_human |
Hgene | BRAF | C0751061 | Craniopharyngioma, Child | 1 | CTD_human |
Hgene | BRAF | C0920269 | Microsatellite Instability | 1 | CTD_human |
Hgene | BRAF | C1527404 | Female Pseudo-Turner Syndrome | 1 | CTD_human |
Hgene | BRAF | C1704230 | Grade I Astrocytoma | 1 | CTD_human |
Hgene | BRAF | C1721098 | Replication Error Phenotype | 1 | CTD_human |
Hgene | BRAF | C2239176 | Liver carcinoma | 1 | CTD_human |
Hgene | BRAF | C4551484 | Leopard Syndrome 1 | 1 | GENOMICS_ENGLAND |
Hgene | BRAF | C4551602 | Noonan Syndrome 1 | 1 | CTD_human |
Hgene | BRAF | C4721532 | Lymphoma, Non-Hodgkin, Familial | 1 | UNIPROT |
Hgene | BRAF | C4733333 | familial non-medullary thyroid cancer | 1 | GENOMICS_ENGLAND |