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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:BRAF-HIBADH (FusionGDB2 ID:HG673TG11112) |
Fusion Gene Summary for BRAF-HIBADH |
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Fusion gene information | Fusion gene name: BRAF-HIBADH | Fusion gene ID: hg673tg11112 | Hgene | Tgene | Gene symbol | BRAF | HIBADH | Gene ID | 673 | 11112 |
Gene name | B-Raf proto-oncogene, serine/threonine kinase | 3-hydroxyisobutyrate dehydrogenase | |
Synonyms | B-RAF1|B-raf|BRAF1|NS7|RAFB1 | NS5ATP1 | |
Cytomap | ('BRAF')('HIBADH') 7q34 | 7p15.2 | |
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 | 3-hydroxyisobutyrate dehydrogenase, mitochondrial3'-hydroxyisobutyrate dehydrogenaseepididymis secretory sperm binding protein | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | P15056 | P31937 | |
Ensembl transtripts involved in fusion gene | ENST00000288602, | ENST00000288602, | |
Fusion gene scores | * DoF score | 28 X 21 X 11=6468 | 9 X 8 X 7=504 |
# samples | 32 | 11 | |
** MAII score | log2(32/6468*10)=-4.3371758685863 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/504*10)=-2.19592020997526 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: BRAF [Title/Abstract] AND HIBADH [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | BRAF(140500162)-HIBADH(27582719), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | BRAF-HIBADH seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. BRAF-HIBADH seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. BRAF-HIBADH seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. BRAF-HIBADH seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. HIBADH-BRAF seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. HIBADH-BRAF seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. HIBADH-BRAF seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. HIBADH-BRAF seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted 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 |
Tgene | HIBADH | GO:0006574 | valine catabolic process | 16466957 |
![]() * 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 | SKCM | TCGA-BF-A5EP-01A | BRAF | chr7 | 140500162 | - | HIBADH | chr7 | 27582719 | - |
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Fusion Gene ORF analysis for BRAF-HIBADH |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000288602 | ENST00000265395 | BRAF | chr7 | 140500162 | - | HIBADH | chr7 | 27582719 | - |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for BRAF-HIBADH |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for BRAF-HIBADH |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:140500162/:27582719) - 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 | HIBADH |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and 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 |
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Fusion Gene Sequence for BRAF-HIBADH |
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Fusion Gene PPI Analysis for BRAF-HIBADH |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for BRAF-HIBADH |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | BRAF | P15056 | DB08881 | Vemurafenib | Inhibitor | Small molecule | Approved |
Hgene | BRAF | P15056 | DB08881 | Vemurafenib | Inhibitor | Small molecule | Approved |
Hgene | BRAF | P15056 | DB08881 | Vemurafenib | Inhibitor | Small molecule | Approved |
Hgene | BRAF | P15056 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
Hgene | BRAF | P15056 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
Hgene | BRAF | P15056 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
Hgene | BRAF | P15056 | DB14840 | Ripretinib | Inhibitor | Small molecule | Approved |
Hgene | BRAF | P15056 | DB14840 | Ripretinib | Inhibitor | Small molecule | Approved |
Hgene | BRAF | P15056 | DB14840 | Ripretinib | Inhibitor | Small molecule | Approved |
Hgene | BRAF | P15056 | DB00398 | Sorafenib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | BRAF | P15056 | DB00398 | Sorafenib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | BRAF | P15056 | DB00398 | Sorafenib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | BRAF | P15056 | DB08912 | Dabrafenib | Antagonist|Inhibitor | Small molecule | Approved|Investigational |
Hgene | BRAF | P15056 | DB08912 | Dabrafenib | Antagonist|Inhibitor | Small molecule | Approved|Investigational |
Hgene | BRAF | P15056 | DB08912 | Dabrafenib | Antagonist|Inhibitor | Small molecule | Approved|Investigational |
Hgene | BRAF | P15056 | DB11718 | Encorafenib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | BRAF | P15056 | DB11718 | Encorafenib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | BRAF | P15056 | DB11718 | Encorafenib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | BRAF | P15056 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | BRAF | P15056 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | BRAF | P15056 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | HIBADH | P31937 | DB00157 | NADH | Small molecule | Approved|Nutraceutical |
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Related Diseases for BRAF-HIBADH |
![]() (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 |