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Fusion gene ID: 19053 |
FusionGeneSummary for KLHL7_BRAF |
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Fusion gene information | Fusion gene name: KLHL7_BRAF | Fusion gene ID: 19053 | Hgene | Tgene | Gene symbol | KLHL7 | BRAF | Gene ID | 55975 | 673 |
Gene name | kelch like family member 7 | B-Raf proto-oncogene, serine/threonine kinase | |
Synonyms | CISS3|KLHL6|SBBI26 | B-RAF1|B-raf|BRAF1|NS7|RAFB1 | |
Cytomap | 7p15.3 | 7q34 | |
Type of gene | protein-coding | protein-coding | |
Description | kelch-like protein 7kelch-like 6kelch-like 7kelch/BTB | 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 | |
Modification date | 20180522 | 20180527 | |
UniProtAcc | Q8IXQ5 | P15056 | |
Ensembl transtripts involved in fusion gene | ENST00000322231, ENST00000339077, ENST00000539124, ENST00000542558, ENST00000409689, ENST00000545443, ENST00000479288, ENST00000322275, ENST00000410047, ENST00000545771, | ENST00000288602, | |
Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 24 X 11 X 10=2640 |
# samples | 5 | 35 | |
** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: KLHL7 [Title/Abstract] AND BRAF [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* 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 | KLHL7 | GO:0016567 | protein ubiquitination | 21828050 |
Tgene | BRAF | GO:0006468 | protein phosphorylation | 17563371 |
Tgene | BRAF | GO:0010828 | positive regulation of glucose transmembrane transport | 23010278 |
Tgene | BRAF | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19667065 |
Tgene | BRAF | GO:0043066 | negative regulation of apoptotic process | 19667065 |
Tgene | BRAF | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 22065586 |
Tgene | BRAF | GO:0071277 | cellular response to calcium ion | 18567582 |
Tgene | BRAF | GO:0090150 | establishment of protein localization to membrane | 23010278 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | GBM | TCGA-28-5218-01A | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
intron-3CDS | ENST00000322231 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
intron-3CDS | ENST00000339077 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
intron-3CDS | ENST00000539124 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
intron-3CDS | ENST00000542558 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
intron-3CDS | ENST00000409689 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
intron-3CDS | ENST00000545443 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
intron-3CDS | ENST00000479288 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
In-frame | ENST00000322275 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
Frame-shift | ENST00000410047 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
intron-3CDS | ENST00000545771 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
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FusionProtFeatures for KLHL7_BRAF |
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Hgene | Tgene |
KLHL7 | BRAF |
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediatingubiquitination and subsequent degradation of substrate proteins.Probably mediates 'Lys-48'-linked ubiquitination.{ECO:0000269|PubMed:21828050}. |
![]() * 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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FusionGeneSequence for KLHL7_BRAF |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_KLHL7_ENST00000322275_chr7_23165418_+_BRAF_ENST00000288602_chr7_140482957_-_617aa MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVELKDA EPDIIEQLVEFAYTARISVNSNNVQSLLDAANQYQIEPVKKMCVDFLKEQVDASNCLGEAEKVDQSLPECGMLFTVXXSLVAHEXTSRCL CSSPPLSAGYVPRPPVNAXNCRXYXILYILCFLXYIHAYDEVXFLNXTVKDXQQXXXNRTTLRSTTGLSATPPASLPGSLTNVKALQKSP GPQRERKSSSSSEDRNRMKTLGRRDSSDDWEIPDGQITVGQRIGSGSFGTVYKGKWHGDVAVKMLNVTAPTPQQLQAFKNEVGVLRKTRH VNILLFMGYSTKPQLAIVTQWCEGSSLYHHLHIIETKFEMIKLIDIARQTAQGMDYLHAKSIIHRDLKSNNIFLHEDLTVKIGDFGLATV KSRWSGSHQFEQLSGSILWMAPEVIRMQDKNPYSFQSDVYAFGIVLYELMTGQLPYSNINNRDQIIFMVGRGYLSPDLSKVRSNCPKAMK |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_KLHL7_ENST00000322275_chr7_23165418_+_BRAF_ENST00000288602_chr7_140482957_-_1851nt ATGGCAGCCTCTGGGGTGGAGAAGAGCAGCAAGAAGAAGACCGAGAAGAAACTTGCTGCTCGGGAAGAAGCTAAATTGTTGGCGGGTTTC ATGGGCGTCATGAATAACATGCGGAAACAGAAAACGTTGTGTGACGTGATCCTCATGGTCCAGGAAAGAAAGATACCTGCTCATCGTGTT GTTCTTGCTGCAGCCAGTCATTTTTTTAACTTAATGTTCACAACTAACATGCTTGAATCAAAGTCCTTTGAAGTAGAACTCAAAGATGCT GAACCTGATATTATTGAACAACTGGTGGAATTTGCTTATACTGCTAGAATTTCCGTGAATAGCAACAATGTTCAGTCTTTGCTGGATGCA GCAAACCAATATCAGATTGAACCTGTGAAGAAAATGTGTGTTGATTTTTTGAAAGAACAAGTTGATGCTTCAAATTGTCTTGGAGAAGCA GAAAAAGTTGATCAGAGCCTTCCAGAGTGTGGTATGCTTTTCACTGTGTGATGATCCTTAGTGGCACATGAATGAACGTCCAGATGTTTG TGCAGTAGCCCACCCTTATCTGCAGGATACGTTCCAAGACCCCCAGTGAATGCCTGAAACTGCAGATAGTACTGAATCCTATATATACTG TGTTTTTTATGATACATACATGCCTATGATGAAGTTTAATTTCTAAATTAGACAGTAAAAGATTAACAACAATAATAATAAAATAGAACA ACTTTAAGATCAACCACAGGTTTGTCTGCTACCCCCCCTGCCTCATTACCTGGCTCACTAACTAACGTGAAAGCCTTACAGAAATCTCCA GGACCTCAGCGAGAAAGGAAGTCATCTTCATCCTCAGAAGACAGGAATCGAATGAAAACACTTGGTAGACGGGACTCGAGTGATGATTGG GAGATTCCTGATGGGCAGATTACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAGTCTACAAGGGAAAGTGGCATGGTGATGTG GCAGTGAAAATGTTGAATGTGACAGCACCTACACCTCAGCAGTTACAAGCCTTCAAAAATGAAGTAGGAGTACTCAGGAAAACACGACAT GTGAATATCCTACTCTTCATGGGCTATTCCACAAAGCCACAACTGGCTATTGTTACCCAGTGGTGTGAGGGCTCCAGCTTGTATCACCAT CTCCATATCATTGAGACCAAATTTGAGATGATCAAACTTATAGATATTGCACGACAGACTGCACAGGGCATGGATTACTTACACGCCAAG TCAATCATCCACAGAGACCTCAAGAGTAATAATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTACAGTG AAATCTCGATGGAGTGGGTCCCATCAGTTTGAACAGTTGTCTGGATCCATTTTGTGGATGGCACCAGAAGTCATCAGAATGCAAGATAAA AATCCATACAGCTTTCAGTCAGATGTATATGCATTTGGAATTGTTCTGTATGAATTGATGACTGGACAGTTACCTTATTCAAACATCAAC AACAGGGACCAGATAATTTTTATGGTGGGACGAGGATACCTGTCTCCAGATCTCAGTAAGGTACGGAGTAACTGTCCAAAAGCCATGAAG AGATTAATGGCAGAGTGCCTCAAAAAGAAAAGAGATGAGAGACCACTCTTTCCCCAAATTCTCGCCTCTATTGAGCTGCTGGCCCGCTCA TTGCCAAAAATTCACCGCAGTGCATCAGAACCCTCCTTGAATCGGGCTGGTTTCCAAACAGAGGATTTTAGTCTATATGCTTGTGCTTCT |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_KLHL7_ENST00000322275_chr7_23165418_+_BRAF_ENST00000288602_chr7_140482957_-_1953nt GATGGCGGCAATGGCGGTGGCGCTGCGGGGATTAGGAGGGCGCTTCCGGTGGCGGACGCAGGCCGTGGCGGGCGGGGTGCGGGGCGCGGC GCGGGGCGCAGCAGAAAACGTTGTGTGACGTGATCCTCATGGTCCAGGAAAGAAAGATACCTGCTCATCGTGTTGTTCTTGCTGCAGCCA GTCATTTTTTTAACTTAATGTTCACAACTAACATGCTTGAATCAAAGTCCTTTGAAGTAGAACTCAAAGATGCTGAACCTGATATTATTG AACAACTGGTGGAATTTGCTTATACTGCTAGAATTTCCGTGAATAGCAACAATGTTCAGTCTTTGCTGGATGCAGCAAACCAATATCAGA TTGAACCTGTGAAGAAAATGTGTGTTGATTTTTTGAAAGAACAAGTTGATGCTTCAAATTGTCTTGGAGAAGCAGAAAAAGTTGATCAGA GCCTTCCAGAGTGTGGTATGCTTTTCACTGTGTGATGATCCTTAGTGGCACATGAATGAACGTCCAGATGTTTGTGCAGTAGCCCACCCT TATCTGCAGGATACGTTCCAAGACCCCCAGTGAATGCCTGAAACTGCAGATAGTACTGAATCCTATATATACTGTGTTTTTTATGATACA TACATGCCTATGATGAAGTTTAATTTCTAAATTAGACAGTAAAAGATTAACAACAATAATAATAAAATAGAACAACTTTAAGATCAACCA CAGGTTTGTCTGCTACCCCCCCTGCCTCATTACCTGGCTCACTAACTAACGTGAAAGCCTTACAGAAATCTCCAGGACCTCAGCGAGAAA GGAAGTCATCTTCATCCTCAGAAGACAGGAATCGAATGAAAACACTTGGTAGACGGGACTCGAGTGATGATTGGGAGATTCCTGATGGGC AGATTACAGTGGGACAAAGAATTGGATCTGGATCATTTGGAACAGTCTACAAGGGAAAGTGGCATGGTGATGTGGCAGTGAAAATGTTGA ATGTGACAGCACCTACACCTCAGCAGTTACAAGCCTTCAAAAATGAAGTAGGAGTACTCAGGAAAACACGACATGTGAATATCCTACTCT TCATGGGCTATTCCACAAAGCCACAACTGGCTATTGTTACCCAGTGGTGTGAGGGCTCCAGCTTGTATCACCATCTCCATATCATTGAGA CCAAATTTGAGATGATCAAACTTATAGATATTGCACGACAGACTGCACAGGGCATGGATTACTTACACGCCAAGTCAATCATCCACAGAG ACCTCAAGAGTAATAATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTACAGTGAAATCTCGATGGAGTG GGTCCCATCAGTTTGAACAGTTGTCTGGATCCATTTTGTGGATGGCACCAGAAGTCATCAGAATGCAAGATAAAAATCCATACAGCTTTC AGTCAGATGTATATGCATTTGGAATTGTTCTGTATGAATTGATGACTGGACAGTTACCTTATTCAAACATCAACAACAGGGACCAGATAA TTTTTATGGTGGGACGAGGATACCTGTCTCCAGATCTCAGTAAGGTACGGAGTAACTGTCCAAAAGCCATGAAGAGATTAATGGCAGAGT GCCTCAAAAAGAAAAGAGATGAGAGACCACTCTTTCCCCAAATTCTCGCCTCTATTGAGCTGCTGGCCCGCTCATTGCCAAAAATTCACC GCAGTGCATCAGAACCCTCCTTGAATCGGGCTGGTTTCCAAACAGAGGATTTTAGTCTATATGCTTGTGCTTCTCCAAAAACACCCATCC AGGCAGGGGGATATGGTGCGTTTCCTGTCCACTGAAACAAATGAGTGAGAGAGTTCAGGAGAGTAGCAACAAAAGGAAAATAAATGAACA |
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FusionGenePPI for KLHL7_BRAF |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
KLHL7 | CUL3, RBX1, KLHL7, UBC, MOV10, NXF1, NUP50, C9orf41, NR2C2, YWHAZ, CKAP5, NUP153, FERMT3, BOD1L1, MSRB3, KLHL6, ARIH1, SDC2, STAT5A, CEP44, GLI3 | BRAF | YWHAB, 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 |
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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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RelatedDrugs for KLHL7_BRAF |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | BRAF | P15056 | DB08881 | Vemurafenib | Serine/threonine-protein kinase B-raf | small molecule | approved |
Tgene | BRAF | P15056 | DB08896 | Regorafenib | Serine/threonine-protein kinase B-raf | small molecule | approved |
Tgene | BRAF | P15056 | DB00398 | Sorafenib | Serine/threonine-protein kinase B-raf | small molecule | approved|investigational |
Tgene | BRAF | P15056 | DB08912 | Dabrafenib | Serine/threonine-protein kinase B-raf | small molecule | approved|investigational |
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RelatedDiseases for KLHL7_BRAF |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | KLHL7 | C2751986 | RETINITIS PIGMENTOSA 42 | 1 | CTD_human;UNIPROT |
Tgene | BRAF | C0025202 | melanoma | 21 | CTD_human |
Tgene | BRAF | C1527249 | Colorectal Cancer | 8 | UNIPROT |
Tgene | BRAF | C1275081 | Cardio-facio-cutaneous syndrome | 6 | CTD_human;ORPHANET;UNIPROT |
Tgene | BRAF | C0009404 | Colorectal Neoplasms | 4 | CTD_human |
Tgene | BRAF | C0040136 | Thyroid Neoplasm | 4 | CTD_human |
Tgene | BRAF | C0024305 | Lymphoma, Non-Hodgkin | 3 | UNIPROT |
Tgene | BRAF | C0684249 | Carcinoma of lung | 3 | UNIPROT |
Tgene | BRAF | C3150970 | NOONAN SYNDROME 7 | 3 | CTD_human;UNIPROT |
Tgene | BRAF | C0152013 | Adenocarcinoma of lung (disorder) | 2 | CTD_human |
Tgene | BRAF | C0002448 | Ameloblastoma | 1 | CTD_human |
Tgene | BRAF | C0004114 | Astrocytoma | 1 | CTD_human |
Tgene | BRAF | C0010276 | Craniopharyngioma | 1 | CTD_human;ORPHANET |
Tgene | BRAF | C0017638 | Glioma | 1 | CTD_human |
Tgene | BRAF | C0022665 | Kidney Neoplasm | 1 | CTD_human |
Tgene | BRAF | C0023903 | Liver neoplasms | 1 | CTD_human |
Tgene | BRAF | C0024694 | Mandibular Neoplasms | 1 | CTD_human |
Tgene | BRAF | C0028326 | Noonan Syndrome | 1 | CTD_human;ORPHANET |
Tgene | BRAF | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | BRAF | C0036920 | Sezary Syndrome | 1 | CTD_human |
Tgene | BRAF | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
Tgene | BRAF | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
Tgene | BRAF | C0206754 | Neuroendocrine Tumors | 1 | CTD_human |
Tgene | BRAF | C0238463 | Papillary thyroid carcinoma | 1 | CTD_human;ORPHANET |
Tgene | BRAF | C0587248 | Costello syndrome (disorder) | 1 | CTD_human |
Tgene | BRAF | C0596263 | Carcinogenesis | 1 | CTD_human |
Tgene | BRAF | C0920269 | Microsatellite Instability | 1 | CTD_human |
Tgene | BRAF | C2239176 | Liver carcinoma | 1 | CTD_human |