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Fusion Protein:NF1-ABCB5 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: NF1-ABCB5 | FusionPDB ID: 58665 | FusionGDB2.0 ID: 58665 | Hgene | Tgene | Gene symbol | NF1 | ABCB5 | Gene ID | 4763 | 340273 |
| Gene name | neurofibromin 1 | ATP binding cassette subfamily B member 5 | |
| Synonyms | NFNS|VRNF|WSS | ABCB5alpha|ABCB5beta|EST422562 | |
| Cytomap | 17q11.2 | 7p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1 | ATP-binding cassette sub-family B member 5ABCB5 P-gpATP-binding cassette proteinATP-binding cassette, sub-family B (MDR/TAP), member 5P-glycoprotein ABCB5 | |
| Modification date | 20200322 | 20200313 | |
| UniProtAcc | P21359 | Q2M3G0 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000356175, ENST00000358273, ENST00000417592, ENST00000444181, ENST00000431387, ENST00000581113, | ENST00000258738, ENST00000406935, ENST00000443026, ENST00000477094, ENST00000404938, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 47 X 26 X 21=25662 | 8 X 7 X 5=280 |
| # samples | 69 | 8 | |
| ** MAII score | log2(69/25662*10)=-5.21689344093196 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/280*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: NF1 [Title/Abstract] AND ABCB5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | NF1(29676269)-ABCB5(20671682), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | NF1-ABCB5 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. NF1-ABCB5 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. NF1-ABCB5 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. NF1-ABCB5 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | NF1 | GO:0043547 | positive regulation of GTPase activity | 2121371 |
| Tgene | ABCB5 | GO:0042391 | regulation of membrane potential | 12960149 |
| Tgene | ABCB5 | GO:0055085 | transmembrane transport | 12960149 |
| Fusion gene breakpoints across NF1 (5'-gene) * 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 breakpoints across ABCB5 (3'-gene) * 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 |
| Fusion gene information from FusionGDB2.0. |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BRCA | TCGA-B6-A0I9-01A | NF1 | chr17 | 29676269 | - | ABCB5 | chr7 | 20671682 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000356175 | NF1 | chr17 | 29676269 | - | ENST00000404938 | ABCB5 | chr7 | 20671682 | + | 12541 | 7641 | 254 | 11155 | 3633 |
| ENST00000358273 | NF1 | chr17 | 29676269 | - | ENST00000404938 | ABCB5 | chr7 | 20671682 | + | 12604 | 7704 | 254 | 11218 | 3654 |
| ENST00000417592 | NF1 | chr17 | 29676269 | - | ENST00000404938 | ABCB5 | chr7 | 20671682 | + | 5364 | 464 | 4 | 3978 | 1324 |
| ENST00000444181 | NF1 | chr17 | 29676269 | - | ENST00000404938 | ABCB5 | chr7 | 20671682 | + | 5604 | 704 | 4 | 4218 | 1404 |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000356175 | ENST00000404938 | NF1 | chr17 | 29676269 | - | ABCB5 | chr7 | 20671682 | + | 0.000388255 | 0.9996118 |
| ENST00000358273 | ENST00000404938 | NF1 | chr17 | 29676269 | - | ABCB5 | chr7 | 20671682 | + | 0.000386059 | 0.99961394 |
| ENST00000417592 | ENST00000404938 | NF1 | chr17 | 29676269 | - | ABCB5 | chr7 | 20671682 | + | 0.000214898 | 0.9997851 |
| ENST00000444181 | ENST00000404938 | NF1 | chr17 | 29676269 | - | ABCB5 | chr7 | 20671682 | + | 0.000206679 | 0.99979335 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >58665_58665_1_NF1-ABCB5_NF1_chr17_29676269_ENST00000356175_ABCB5_chr7_20671682_ENST00000404938_length(amino acids)=3633AA_BP=2462 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENY PDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFLDSLRKALAGHGGSRQLT ESAAIACVKLCKASTYINWEDNSVIFLLVQSMVVDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQNSPSTFH YVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMV KLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEALLVLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTS HQMLSSTEILKWLREILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRKGKGNSSMDSAAGCSGTP PICRQAQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIRCGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIE HPTAGNTEAWEDTHAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINMTGFLCALGGVCLQQRSN SGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLSLMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDS QGQVLLTDTNTQFVEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVEVMMARRDDLSFCQEMKF RNKMVEYLTDWVMGTSNQAADDDVKCLTRDLDQASMEAVVSLLAGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESAQT GGRKRGMSRRLASLRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETVLADRFERLVELVTMMGD QGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNMFSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRI VITSSDWQHVSFEVDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQVVSQRFPQNSIGAVGSAMFLRFINPAI VSPYEAGILDKKPPPRIERGLKLMSKILQSIANHVLFTKEEHMRPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFISDGNVLALH RLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHWSSLNLTSSKFEEFMTRHQVHEKEEFKALKTLSIFYQAGT SKAGNPIFYYVARRFKTGQINGDLLIYHVLLTLKPYYAKPYEIVVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIYNCNSWVRE YTKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLAHKDTKVSIKVGSTAVQVTSAERTKVLGQSVF LNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAIVQSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPS LRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISKTLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVR FCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLGQITDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALASGNVKLVSS KVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHLPYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQ LHFSEETKQVLRLSLTEFSLPKFYLLFGISKVKSAAVIAFRSSYRDRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQ WTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIALTKLQPLLNKDSPLHKALFWV AVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRHPSPAIVAR TVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAANYQNCTQSQEKLNEDMTLLTLYYVGIGVAALIFGYIQISLWIITAARQTKRIRKQFF HSVLAQDIGWFDSCDIGELNTRMTDDIDKISDGIGDKIALLFQNMSTFSIGLAVGLVKGWKLTLVTLSTSPLIMASAAACSRMVISLTSK ELSAYSKAGAVAEEVLSSIRTVIAFRAQEKELQRYTQNLKDAKDFGIKRTIASKVSLGAVYFFMNGTYGLAFWYGTSLILNGEPGYTIGT VLAVFFSVIHSSYCIGAAVPHFETFAIARGAAFHIFQVIDKKPSIDNFSTAGYKPESIEGTVEFKNVSFNYPSRPSIKILKGLNLRIKSG ETVALVGLNGSGKSTVVQLLQRLYDPDDGFIMVDENDIRALNVRHYRDHIGVVSQEPVLFGTTISNNIKYGRDDVTDEEMERAAREANAY DFIMEFPNKFNTLVGEKGAQMSGGQKQRIAIARALVRNPKILILDEATSALDSESKSAVQAALEKASKGRTTIVVAHRLSTIRSADLIVT LKDGMLAEKGAHAELMAKRGLYYSLVMSQDIKKADEQMESMTYSTERKTNSLPLHSVKSIKSDFIDKAEESTQSKEISLPEVSLLKILKL NKPEWPFVVLGTLASVLNGTVHPVFSIIFAKIITMFGNNDKTTLKHDAEIYSMIFVILGVICFVSYFMQGLFYGRAGEILTMRLRHLAFK AMLYQDIAWFDEKENSTGGLTTILAIDIAQIQGATGSRIGVLTQNATNMGLSVIISFIYGWEMTFLILSIAPVLAVTGMIETAAMTGFAN KDKQELKHAGKIATEALENIRTIVSLTREKAFEQMYEEMLQTQHRNTSKKAQIIGSCYAFSHAFIYFAYAAGFRFGAYLIQAGRMTPEGM FIVFTAIAYGAMAIGETLVLAPEYSKAKSGAAHLFALLEKKPNIDSRSQEGKKPDTCEGNLEFREVSFFYPCRPDVFILRGLSLSIERGK TVAFVGSSGCGKSTSVQLLQRLYDPVQGQVLFDGVDAKELNVQWLRSQIAIVPQEPVLFNCSIAENIAYGDNSRVVPLDEIKEAANAANI HSFIEGLPEKYNTQVGLKGAQLSGGQKQRLAIARALLQKPKILLLDEATSALDNDSEKVVQHALDKARTGRTCLVVTHRLSAIQNADLIV -------------------------------------------------------------- >58665_58665_2_NF1-ABCB5_NF1_chr17_29676269_ENST00000358273_ABCB5_chr7_20671682_ENST00000404938_length(amino acids)=3654AA_BP=2483 MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENY PDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFLDSLRKALAGHGGSRQLT ESAAIACVKLCKASTYINWEDNSVIFLLVQSMVVDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQNSPSTFH YVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMV KLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEALLVLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTS HQMLSSTEILKWLREILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRKGKGNSSMDSAAGCSGTP PICRQAQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIRCGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIE HPTAGNTEAWEDTHAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINMTGFLCALGGVCLQQRSN SGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLSLMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDS QGQVLLTDTNTQFVEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVEVMMARRDDLSFCQEMKF RNKMVEYLTDWVMGTSNQAADDDVKCLTRDLDQASMEAVVSLLAGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESAQT GGRKRGMSRRLASLRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETVLADRFERLVELVTMMGD QGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNMFSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRI VITSSDWQHVSFEVDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQATCHSLLNKATVKEKKENKKSVVSQRF PQNSIGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLKLMSKILQSIANHVLFTKEEHMRPFNDFVKSNFDAARRFFLDIASDCP TSDAVNHSLSFISDGNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHWSSLNLTSSKFEEFMTRHQ VHEKEEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTGQINGDLLIYHVLLTLKPYYAKPYEIVVDLTHTGPSNRFKTDFLSKWFVVFP GFAYDNVSAVYIYNCNSWVREYTKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLAHKDTKVSIKV GSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAIVQSIIHIRTRWELSQPDSIPQHTKIRP KDVPGTLLNIALLNLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISKTLAANEPHLTLEFLEECISGFSKS SIELKHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLGQITDLLDVVLDSFIKTSATGGLGSIK AEVMADTAVALASGNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHLPYLFHVVTFLVATGPLS LRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISKVKSAAVIAFRSSYRDRSFSPGSYERETFALTSLETVTE ALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIA LTKLQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSNFN FALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAANYQNCTQSQEKLNEDMTLLTLYYVGIGVAALIFGYI QISLWIITAARQTKRIRKQFFHSVLAQDIGWFDSCDIGELNTRMTDDIDKISDGIGDKIALLFQNMSTFSIGLAVGLVKGWKLTLVTLST SPLIMASAAACSRMVISLTSKELSAYSKAGAVAEEVLSSIRTVIAFRAQEKELQRYTQNLKDAKDFGIKRTIASKVSLGAVYFFMNGTYG LAFWYGTSLILNGEPGYTIGTVLAVFFSVIHSSYCIGAAVPHFETFAIARGAAFHIFQVIDKKPSIDNFSTAGYKPESIEGTVEFKNVSF NYPSRPSIKILKGLNLRIKSGETVALVGLNGSGKSTVVQLLQRLYDPDDGFIMVDENDIRALNVRHYRDHIGVVSQEPVLFGTTISNNIK YGRDDVTDEEMERAAREANAYDFIMEFPNKFNTLVGEKGAQMSGGQKQRIAIARALVRNPKILILDEATSALDSESKSAVQAALEKASKG RTTIVVAHRLSTIRSADLIVTLKDGMLAEKGAHAELMAKRGLYYSLVMSQDIKKADEQMESMTYSTERKTNSLPLHSVKSIKSDFIDKAE ESTQSKEISLPEVSLLKILKLNKPEWPFVVLGTLASVLNGTVHPVFSIIFAKIITMFGNNDKTTLKHDAEIYSMIFVILGVICFVSYFMQ GLFYGRAGEILTMRLRHLAFKAMLYQDIAWFDEKENSTGGLTTILAIDIAQIQGATGSRIGVLTQNATNMGLSVIISFIYGWEMTFLILS IAPVLAVTGMIETAAMTGFANKDKQELKHAGKIATEALENIRTIVSLTREKAFEQMYEEMLQTQHRNTSKKAQIIGSCYAFSHAFIYFAY AAGFRFGAYLIQAGRMTPEGMFIVFTAIAYGAMAIGETLVLAPEYSKAKSGAAHLFALLEKKPNIDSRSQEGKKPDTCEGNLEFREVSFF YPCRPDVFILRGLSLSIERGKTVAFVGSSGCGKSTSVQLLQRLYDPVQGQVLFDGVDAKELNVQWLRSQIAIVPQEPVLFNCSIAENIAY GDNSRVVPLDEIKEAANAANIHSFIEGLPEKYNTQVGLKGAQLSGGQKQRLAIARALLQKPKILLLDEATSALDNDSEKVVQHALDKART -------------------------------------------------------------- >58665_58665_3_NF1-ABCB5_NF1_chr17_29676269_ENST00000417592_ABCB5_chr7_20671682_ENST00000404938_length(amino acids)=1324AA_BP=153 MHERYSNVQVAGPVDRTSSKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHF VGLNFNSNFNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAANYQNCTQSQEKLNEDMTLLTLYYVGI GVAALIFGYIQISLWIITAARQTKRIRKQFFHSVLAQDIGWFDSCDIGELNTRMTDDIDKISDGIGDKIALLFQNMSTFSIGLAVGLVKG WKLTLVTLSTSPLIMASAAACSRMVISLTSKELSAYSKAGAVAEEVLSSIRTVIAFRAQEKELQRYTQNLKDAKDFGIKRTIASKVSLGA VYFFMNGTYGLAFWYGTSLILNGEPGYTIGTVLAVFFSVIHSSYCIGAAVPHFETFAIARGAAFHIFQVIDKKPSIDNFSTAGYKPESIE GTVEFKNVSFNYPSRPSIKILKGLNLRIKSGETVALVGLNGSGKSTVVQLLQRLYDPDDGFIMVDENDIRALNVRHYRDHIGVVSQEPVL FGTTISNNIKYGRDDVTDEEMERAAREANAYDFIMEFPNKFNTLVGEKGAQMSGGQKQRIAIARALVRNPKILILDEATSALDSESKSAV QAALEKASKGRTTIVVAHRLSTIRSADLIVTLKDGMLAEKGAHAELMAKRGLYYSLVMSQDIKKADEQMESMTYSTERKTNSLPLHSVKS IKSDFIDKAEESTQSKEISLPEVSLLKILKLNKPEWPFVVLGTLASVLNGTVHPVFSIIFAKIITMFGNNDKTTLKHDAEIYSMIFVILG VICFVSYFMQGLFYGRAGEILTMRLRHLAFKAMLYQDIAWFDEKENSTGGLTTILAIDIAQIQGATGSRIGVLTQNATNMGLSVIISFIY GWEMTFLILSIAPVLAVTGMIETAAMTGFANKDKQELKHAGKIATEALENIRTIVSLTREKAFEQMYEEMLQTQHRNTSKKAQIIGSCYA FSHAFIYFAYAAGFRFGAYLIQAGRMTPEGMFIVFTAIAYGAMAIGETLVLAPEYSKAKSGAAHLFALLEKKPNIDSRSQEGKKPDTCEG NLEFREVSFFYPCRPDVFILRGLSLSIERGKTVAFVGSSGCGKSTSVQLLQRLYDPVQGQVLFDGVDAKELNVQWLRSQIAIVPQEPVLF NCSIAENIAYGDNSRVVPLDEIKEAANAANIHSFIEGLPEKYNTQVGLKGAQLSGGQKQRLAIARALLQKPKILLLDEATSALDNDSEKV -------------------------------------------------------------- >58665_58665_4_NF1-ABCB5_NF1_chr17_29676269_ENST00000444181_ABCB5_chr7_20671682_ENST00000404938_length(amino acids)=1404AA_BP=233 MHERYSNVQVAGPVDRTSSKFCGSFNCRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIA LTKLQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSNFN FALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAANYQNCTQSQEKLNEDMTLLTLYYVGIGVAALIFGYI QISLWIITAARQTKRIRKQFFHSVLAQDIGWFDSCDIGELNTRMTDDIDKISDGIGDKIALLFQNMSTFSIGLAVGLVKGWKLTLVTLST SPLIMASAAACSRMVISLTSKELSAYSKAGAVAEEVLSSIRTVIAFRAQEKELQRYTQNLKDAKDFGIKRTIASKVSLGAVYFFMNGTYG LAFWYGTSLILNGEPGYTIGTVLAVFFSVIHSSYCIGAAVPHFETFAIARGAAFHIFQVIDKKPSIDNFSTAGYKPESIEGTVEFKNVSF NYPSRPSIKILKGLNLRIKSGETVALVGLNGSGKSTVVQLLQRLYDPDDGFIMVDENDIRALNVRHYRDHIGVVSQEPVLFGTTISNNIK YGRDDVTDEEMERAAREANAYDFIMEFPNKFNTLVGEKGAQMSGGQKQRIAIARALVRNPKILILDEATSALDSESKSAVQAALEKASKG RTTIVVAHRLSTIRSADLIVTLKDGMLAEKGAHAELMAKRGLYYSLVMSQDIKKADEQMESMTYSTERKTNSLPLHSVKSIKSDFIDKAE ESTQSKEISLPEVSLLKILKLNKPEWPFVVLGTLASVLNGTVHPVFSIIFAKIITMFGNNDKTTLKHDAEIYSMIFVILGVICFVSYFMQ GLFYGRAGEILTMRLRHLAFKAMLYQDIAWFDEKENSTGGLTTILAIDIAQIQGATGSRIGVLTQNATNMGLSVIISFIYGWEMTFLILS IAPVLAVTGMIETAAMTGFANKDKQELKHAGKIATEALENIRTIVSLTREKAFEQMYEEMLQTQHRNTSKKAQIIGSCYAFSHAFIYFAY AAGFRFGAYLIQAGRMTPEGMFIVFTAIAYGAMAIGETLVLAPEYSKAKSGAAHLFALLEKKPNIDSRSQEGKKPDTCEGNLEFREVSFF YPCRPDVFILRGLSLSIERGKTVAFVGSSGCGKSTSVQLLQRLYDPVQGQVLFDGVDAKELNVQWLRSQIAIVPQEPVLFNCSIAENIAY GDNSRVVPLDEIKEAANAANIHSFIEGLPEKYNTQVGLKGAQLSGGQKQRLAIARALLQKPKILLLDEATSALDNDSEKVVQHALDKART 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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:29676269/chr7:20671682) - 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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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NF1 | ABCB5 |
| FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269|PubMed:2121371, ECO:0000269|PubMed:8417346}. | FUNCTION: Energy-dependent efflux transporter responsible for decreased drug accumulation in multidrug-resistant cells (PubMed:12960149, PubMed:22306008, PubMed:15899824, PubMed:15205344). Specifically present in limbal stem cells, where it plays a key role in corneal development and repair (By similarity). {ECO:0000250|UniProtKB:B5X0E4, ECO:0000269|PubMed:12960149, ECO:0000269|PubMed:15205344, ECO:0000269|PubMed:15899824, ECO:0000269|PubMed:22306008}. |
| Retention 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 * Minus value of BPloci means that the break pointn is located before the CDS. |
| - 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 | NF1 | chr17:29676269 | chr7:20671682 | ENST00000356175 | - | 48 | 57 | 1352_1355 | 2419.3333333333335 | 2819.0 | Compositional bias | Note=Poly-Ser |
| Hgene | NF1 | chr17:29676269 | chr7:20671682 | ENST00000358273 | - | 49 | 58 | 1352_1355 | 2440.3333333333335 | 2840.0 | Compositional bias | Note=Poly-Ser |
| Hgene | NF1 | chr17:29676269 | chr7:20671682 | ENST00000356175 | - | 48 | 57 | 1235_1451 | 2419.3333333333335 | 2819.0 | Domain | Ras-GAP |
| Hgene | NF1 | chr17:29676269 | chr7:20671682 | ENST00000356175 | - | 48 | 57 | 1580_1738 | 2419.3333333333335 | 2819.0 | Domain | CRAL-TRIO |
| Hgene | NF1 | chr17:29676269 | chr7:20671682 | ENST00000358273 | - | 49 | 58 | 1235_1451 | 2440.3333333333335 | 2840.0 | Domain | Ras-GAP |
| Hgene | NF1 | chr17:29676269 | chr7:20671682 | ENST00000358273 | - | 49 | 58 | 1580_1738 | 2440.3333333333335 | 2840.0 | Domain | CRAL-TRIO |
| Hgene | NF1 | chr17:29676269 | chr7:20671682 | ENST00000356175 | - | 48 | 57 | 1580_1837 | 2419.3333333333335 | 2819.0 | Region | Note=Lipid binding |
| Hgene | NF1 | chr17:29676269 | chr7:20671682 | ENST00000358273 | - | 49 | 58 | 1580_1837 | 2440.3333333333335 | 2840.0 | Region | Note=Lipid binding |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 1015_1253 | 0 | 813.0 | Domain | ABC transporter 2 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 386_622 | 0 | 813.0 | Domain | ABC transporter 1 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 49_350 | 0 | 813.0 | Domain | ABC transmembrane type-1 1 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 693_980 | 0 | 813.0 | Domain | ABC transmembrane type-1 2 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 1015_1253 | 86.33333333333333 | 1258.0 | Domain | ABC transporter 2 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 386_622 | 86.33333333333333 | 1258.0 | Domain | ABC transporter 1 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 693_980 | 86.33333333333333 | 1258.0 | Domain | ABC transmembrane type-1 2 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 1015_1253 | 0 | 127.0 | Domain | ABC transporter 2 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 386_622 | 0 | 127.0 | Domain | ABC transporter 1 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 49_350 | 0 | 127.0 | Domain | ABC transmembrane type-1 1 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 693_980 | 0 | 127.0 | Domain | ABC transmembrane type-1 2 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 1015_1253 | 0 | 132.0 | Domain | ABC transporter 2 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 386_622 | 0 | 132.0 | Domain | ABC transporter 1 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 49_350 | 0 | 132.0 | Domain | ABC transmembrane type-1 1 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 693_980 | 0 | 132.0 | Domain | ABC transmembrane type-1 2 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 1050_1057 | 0 | 813.0 | Nucleotide binding | ATP | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 421_428 | 0 | 813.0 | Nucleotide binding | ATP | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 1050_1057 | 86.33333333333333 | 1258.0 | Nucleotide binding | ATP | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 421_428 | 86.33333333333333 | 1258.0 | Nucleotide binding | ATP | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 1050_1057 | 0 | 127.0 | Nucleotide binding | ATP | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 421_428 | 0 | 127.0 | Nucleotide binding | ATP | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 1050_1057 | 0 | 132.0 | Nucleotide binding | ATP | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 421_428 | 0 | 132.0 | Nucleotide binding | ATP | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 110_130 | 0 | 813.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 181_201 | 0 | 813.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 203_223 | 0 | 813.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 294_314 | 0 | 813.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 322_342 | 0 | 813.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 49_69 | 0 | 813.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 693_713 | 0 | 813.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 737_757 | 0 | 813.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 827_847 | 0 | 813.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 917_937 | 0 | 813.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000258738 | 0 | 19 | 954_974 | 0 | 813.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 110_130 | 86.33333333333333 | 1258.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 181_201 | 86.33333333333333 | 1258.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 203_223 | 86.33333333333333 | 1258.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 294_314 | 86.33333333333333 | 1258.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 322_342 | 86.33333333333333 | 1258.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 693_713 | 86.33333333333333 | 1258.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 737_757 | 86.33333333333333 | 1258.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 827_847 | 86.33333333333333 | 1258.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 917_937 | 86.33333333333333 | 1258.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 954_974 | 86.33333333333333 | 1258.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 110_130 | 0 | 127.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 181_201 | 0 | 127.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 203_223 | 0 | 127.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 294_314 | 0 | 127.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 322_342 | 0 | 127.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 49_69 | 0 | 127.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 693_713 | 0 | 127.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 737_757 | 0 | 127.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 827_847 | 0 | 127.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 917_937 | 0 | 127.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000406935 | 0 | 6 | 954_974 | 0 | 127.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 110_130 | 0 | 132.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 181_201 | 0 | 132.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 203_223 | 0 | 132.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 294_314 | 0 | 132.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 322_342 | 0 | 132.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 49_69 | 0 | 132.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 693_713 | 0 | 132.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 737_757 | 0 | 132.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 827_847 | 0 | 132.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 917_937 | 0 | 132.0 | Transmembrane | Helical | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000443026 | 0 | 6 | 954_974 | 0 | 132.0 | Transmembrane | Helical |
| - 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 | NF1 | chr17:29676269 | chr7:20671682 | ENST00000431387 | - | 1 | 15 | 1352_1355 | 0 | 594.0 | Compositional bias | Note=Poly-Ser |
| Hgene | NF1 | chr17:29676269 | chr7:20671682 | ENST00000431387 | - | 1 | 15 | 1235_1451 | 0 | 594.0 | Domain | Ras-GAP |
| Hgene | NF1 | chr17:29676269 | chr7:20671682 | ENST00000431387 | - | 1 | 15 | 1580_1738 | 0 | 594.0 | Domain | CRAL-TRIO |
| Hgene | NF1 | chr17:29676269 | chr7:20671682 | ENST00000356175 | - | 48 | 57 | 2555_2571 | 2419.3333333333335 | 2819.0 | Motif | Note=Bipartite nuclear localization signal |
| Hgene | NF1 | chr17:29676269 | chr7:20671682 | ENST00000358273 | - | 49 | 58 | 2555_2571 | 2440.3333333333335 | 2840.0 | Motif | Note=Bipartite nuclear localization signal |
| Hgene | NF1 | chr17:29676269 | chr7:20671682 | ENST00000431387 | - | 1 | 15 | 2555_2571 | 0 | 594.0 | Motif | Note=Bipartite nuclear localization signal |
| Hgene | NF1 | chr17:29676269 | chr7:20671682 | ENST00000431387 | - | 1 | 15 | 1580_1837 | 0 | 594.0 | Region | Note=Lipid binding |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 49_350 | 86.33333333333333 | 1258.0 | Domain | ABC transmembrane type-1 1 | |
| Tgene | ABCB5 | chr17:29676269 | chr7:20671682 | ENST00000404938 | 3 | 28 | 49_69 | 86.33333333333333 | 1258.0 | Transmembrane | Helical |
Top |
Fusion Protein-Protein Interaction |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| NF1 | HRAS, SMARCA4, POLR2A, TIRAP, SIRT7, VCP, NSFL1C, CAV1, YWHAB, FAF2, NXF1, CCDC8, HLA-DPA1, EFNB2, CD274, TNFSF13B, CA14, SLAMF1, VSIG4, TGOLN2, HTR6, NOSIP, KRAS, CLK1, CDC5L, APP, YWHAH, PML, TRAF6, PTEN, SDC2, EGFR, CD79B, P4HA3, SCN3B, VSIG1, SIGLECL1, EPHA1, FAM174A, KCTD3, KIF13B, ZBTB21, KSR1, CGN, GIGYF1, LRFN1, RTKN, MAST3, DENND1A, SH3PXD2A, SRGAP2, DENND4C, PPM1H, EIF4E2, SIPA1L1, LIMA1, RALGPS2, MAGI1, CBY1, TESK2, CDC25C, DCLK1, GIGYF2, HDAC4, LPIN3, ZNF638, CAMSAP2, NADK, MAPKAP1, SRSF12, RASAL2, SYDE1, KIAA1804, TIAM1, AGAP1, CDC25B, CDK16, SH3RF3, PHLDB2, PLEKHA7, KIF1C, OSBPL6, FAM110B, USP21, NAV1, TANC2, PTPN13, FAM53C, ANKRD34A, STARD13, PTPN14, GAB2, DENND4A, INPP5E, TOP1, TOP2A, TOP3A, NRAS, ZUFSP, ESR2, LZTR1, SPRED1, MYC, LIMK2, KIAA1429, CTDP1, DYRK1A, F12, AKT1, EPHA2, MAP2K3, RAF1, SOX4, BIRC3, ORF7a, LCK, NOLC1, N, nsp7, KIF14, PRC1, MKI67, FASN, NR3C1, DDRGK1, FLOT1, LYN, PFN1, RHOB, ATG7, EFS, C19orf38, CDHR2, ITFG3, CD80, SEMA4C, DGCR2, EFNA4, PTGES2, LRRC25, EVI2A, EFNB1, TPST2, C3orf18, GYPA, HCST, TACSTD2, OPALIN, IL2RA, CD226, SIRT6, |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| NF1 |  |
| ABCB5 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs to NF1-ABCB5 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
Top |
Related Diseases to NF1-ABCB5 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NF1 | C0027831 | Neurofibromatosis 1 | 44 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | NF1 | C1708353 | Hereditary Paraganglioma-Pheochromocytoma Syndrome | 10 | CLINGEN |
| Hgene | NF1 | C0349639 | Juvenile Myelomonocytic Leukemia | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | NF1 | C2931482 | Neurofibromatosis-Noonan syndrome | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | NF1 | C0553586 | Cafe-au-lait macules with pulmonary stenosis | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | NF1 | C0162678 | Neurofibromatoses | 3 | CGI;CTD_human;GENOMICS_ENGLAND |
| Hgene | NF1 | C0004114 | Astrocytoma | 2 | CTD_human |
| Hgene | NF1 | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
| Hgene | NF1 | C0025202 | melanoma | 2 | CGI;CTD_human |
| Hgene | NF1 | C0026998 | Acute Myeloid Leukemia, M1 | 2 | CTD_human |
| Hgene | NF1 | C0205768 | Subependymal Giant Cell Astrocytoma | 2 | CTD_human |
| Hgene | NF1 | C0206727 | Nerve Sheath Tumors | 2 | CTD_human |
| Hgene | NF1 | C0280783 | Juvenile Pilocytic Astrocytoma | 2 | CTD_human |
| Hgene | NF1 | C0280785 | Diffuse Astrocytoma | 2 | CTD_human |
| Hgene | NF1 | C0334579 | Anaplastic astrocytoma | 2 | CTD_human |
| Hgene | NF1 | C0334580 | Protoplasmic astrocytoma | 2 | CTD_human |
| Hgene | NF1 | C0334581 | Gemistocytic astrocytoma | 2 | CTD_human |
| Hgene | NF1 | C0334582 | Fibrillary Astrocytoma | 2 | CTD_human |
| Hgene | NF1 | C0334583 | Pilocytic Astrocytoma | 2 | CTD_human |
| Hgene | NF1 | C0338070 | Childhood Cerebral Astrocytoma | 2 | CTD_human |
| Hgene | NF1 | C0547065 | Mixed oligoastrocytoma | 2 | CTD_human |
| Hgene | NF1 | C0750935 | Cerebral Astrocytoma | 2 | CTD_human |
| Hgene | NF1 | C0750936 | Intracranial Astrocytoma | 2 | CTD_human |
| Hgene | NF1 | C0751689 | Peripheral Nerve Sheath Neoplasm | 2 | CTD_human |
| Hgene | NF1 | C0751691 | Perineurioma | 2 | CTD_human |
| Hgene | NF1 | C1704230 | Grade I Astrocytoma | 2 | CTD_human |
| Hgene | NF1 | C1834235 | NEUROFIBROMATOSIS, FAMILIAL SPINAL | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | NF1 | C1879321 | Acute Myeloid Leukemia (AML-M2) | 2 | CTD_human |
| Hgene | NF1 | C0001430 | Adenoma | 1 | CTD_human |
| Hgene | NF1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | NF1 | C0016057 | Fibrosarcoma | 1 | CTD_human |
| Hgene | NF1 | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | NF1 | C0017638 | Glioma | 1 | CGI;CTD_human |
| Hgene | NF1 | C0020796 | Profound Mental Retardation | 1 | CTD_human |
| Hgene | NF1 | C0023186 | Learning Disorders | 1 | CTD_human |
| Hgene | NF1 | C0023827 | liposarcoma | 1 | CTD_human |
| Hgene | NF1 | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human |
| Hgene | NF1 | C0026654 | Moyamoya Disease | 1 | GENOMICS_ENGLAND |
| Hgene | NF1 | C0027809 | Neurilemmoma | 1 | CTD_human |
| Hgene | NF1 | C0027830 | neurofibroma | 1 | CTD_human |
| Hgene | NF1 | C0027962 | Melanocytic nevus | 1 | CTD_human |
| Hgene | NF1 | C0028326 | Noonan Syndrome | 1 | GENOMICS_ENGLAND |
| Hgene | NF1 | C0031511 | Pheochromocytoma | 1 | CTD_human |
| Hgene | NF1 | C0035320 | Retinal Neovascularization | 1 | CTD_human |
| Hgene | NF1 | C0205646 | Adenoma, Basal Cell | 1 | CTD_human |
| Hgene | NF1 | C0205647 | Follicular adenoma | 1 | CTD_human |
| Hgene | NF1 | C0205648 | Adenoma, Microcystic | 1 | CTD_human |
| Hgene | NF1 | C0205649 | Adenoma, Monomorphic | 1 | CTD_human |
| Hgene | NF1 | C0205650 | Papillary adenoma | 1 | CTD_human |
| Hgene | NF1 | C0205651 | Adenoma, Trabecular | 1 | CTD_human |
| Hgene | NF1 | C0205824 | Liposarcoma, Dedifferentiated | 1 | CTD_human |
| Hgene | NF1 | C0205825 | Liposarcoma, Pleomorphic | 1 | CTD_human |
| Hgene | NF1 | C0205944 | Sarcoma, Epithelioid | 1 | CTD_human |
| Hgene | NF1 | C0205945 | Sarcoma, Spindle Cell | 1 | CTD_human |
| Hgene | NF1 | C0259783 | mixed gliomas | 1 | CTD_human |
| Hgene | NF1 | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human |
| Hgene | NF1 | C0555198 | Malignant Glioma | 1 | CTD_human |
| Hgene | NF1 | C0751262 | Adult Learning Disorders | 1 | CTD_human |
| Hgene | NF1 | C0751263 | Learning Disturbance | 1 | CTD_human |
| Hgene | NF1 | C0751265 | Learning Disabilities | 1 | CTD_human |
| Hgene | NF1 | C0751374 | Schwannomatosis, Plexiform | 1 | CTD_human |
| Hgene | NF1 | C0917816 | Mental deficiency | 1 | CTD_human |
| Hgene | NF1 | C0917817 | Neurofibromatosis 3 | 1 | CTD_human |
| Hgene | NF1 | C1257877 | Pheochromocytoma, Extra-Adrenal | 1 | CTD_human |
| Hgene | NF1 | C1261473 | Sarcoma | 1 | CTD_human |
| Hgene | NF1 | C1330966 | Developmental Academic Disorder | 1 | CTD_human |
| Hgene | NF1 | C1370889 | Liposarcoma, well differentiated | 1 | CTD_human |
| Hgene | NF1 | C1621958 | Glioblastoma Multiforme | 1 | CTD_human |
| Hgene | NF1 | C3150928 | NF1 Microdeletion Syndrome | 1 | ORPHANET |
| Hgene | NF1 | C3714756 | Intellectual Disability | 1 | CTD_human |
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