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Fusion Protein:KIF1B-NF1 |
Fusion Protein Summary |
Fusion gene summary |
Fusion partner gene information | Fusion gene name: KIF1B-NF1 | FusionPDB ID: 42603 | FusionGDB2.0 ID: 42603 | Hgene | Tgene | Gene symbol | KIF1B | NF1 | Gene ID | 23095 | 4763 |
Gene name | kinesin family member 1B | neurofibromin 1 | |
Synonyms | CMT2|CMT2A|CMT2A1|HMSNII|KLP|NBLST1 | NFNS|VRNF|WSS | |
Cytomap | 1p36.22 | 17q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | kinesin-like protein KIF1Bkinesin superfamily protein KIF1B | neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1 | |
Modification date | 20200328 | 20200322 | |
UniProtAcc | O60333 | P21359 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000263934, ENST00000377081, ENST00000377086, ENST00000377083, ENST00000377093, ENST00000465635, | ENST00000417592, ENST00000431387, ENST00000444181, ENST00000581113, ENST00000356175, ENST00000358273, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 18 X 19 X 14=4788 | 28 X 30 X 15=12600 |
# samples | 24 | 33 | |
** MAII score | log2(24/4788*10)=-4.31831684133498 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(33/12600*10)=-5.25481389902883 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: KIF1B [Title/Abstract] AND NF1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | KIF1B(10403345)-NF1(29683478), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | KIF1B-NF1 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. KIF1B-NF1 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. KIF1B-NF1 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. KIF1B-NF1 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 |
Tgene | NF1 | GO:0043547 | positive regulation of GTPase activity | 2121371 |
Fusion gene breakpoints across KIF1B (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across NF1 (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 | BLCA | TCGA-ZF-A9R3-01A | KIF1B | chr1 | 10403345 | - | NF1 | chr17 | 29683478 | + |
ChimerDB4 | BLCA | TCGA-ZF-A9R3-01A | KIF1B | chr1 | 10403345 | + | NF1 | chr17 | 29683478 | + |
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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) |
ENST00000263934 | KIF1B | chr1 | 10403345 | + | ENST00000356175 | NF1 | chr17 | 29683478 | + | 8130 | 3703 | 33 | 4607 | 1524 |
ENST00000263934 | KIF1B | chr1 | 10403345 | + | ENST00000358273 | NF1 | chr17 | 29683478 | + | 8130 | 3703 | 33 | 4607 | 1524 |
ENST00000377086 | KIF1B | chr1 | 10403345 | + | ENST00000356175 | NF1 | chr17 | 29683478 | + | 8317 | 3890 | 103 | 4794 | 1563 |
ENST00000377086 | KIF1B | chr1 | 10403345 | + | ENST00000358273 | NF1 | chr17 | 29683478 | + | 8317 | 3890 | 103 | 4794 | 1563 |
ENST00000377081 | KIF1B | chr1 | 10403345 | + | ENST00000356175 | NF1 | chr17 | 29683478 | + | 8194 | 3767 | 43 | 4671 | 1542 |
ENST00000377081 | KIF1B | chr1 | 10403345 | + | ENST00000358273 | NF1 | chr17 | 29683478 | + | 8194 | 3767 | 43 | 4671 | 1542 |
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 |
ENST00000263934 | ENST00000356175 | KIF1B | chr1 | 10403345 | + | NF1 | chr17 | 29683478 | + | 5.45E-05 | 0.9999455 |
ENST00000263934 | ENST00000358273 | KIF1B | chr1 | 10403345 | + | NF1 | chr17 | 29683478 | + | 5.45E-05 | 0.9999455 |
ENST00000377086 | ENST00000356175 | KIF1B | chr1 | 10403345 | + | NF1 | chr17 | 29683478 | + | 6.43E-05 | 0.9999356 |
ENST00000377086 | ENST00000358273 | KIF1B | chr1 | 10403345 | + | NF1 | chr17 | 29683478 | + | 6.43E-05 | 0.9999356 |
ENST00000377081 | ENST00000356175 | KIF1B | chr1 | 10403345 | + | NF1 | chr17 | 29683478 | + | 5.32E-05 | 0.99994683 |
ENST00000377081 | ENST00000358273 | KIF1B | chr1 | 10403345 | + | NF1 | chr17 | 29683478 | + | 5.32E-05 | 0.99994683 |
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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 >42603_42603_1_KIF1B-NF1_KIF1B_chr1_10403345_ENST00000263934_NF1_chr17_29683478_ENST00000356175_length(amino acids)=1524AA_BP=1223 MLTRSARRSAARLRKLGCNFKRRFDSLFLDCIYIYNKAIKMSGASVKVAVRVRPFNSRETSKESKCIIQMQGNSTSIINPKNPKEAPKSF SFDYSYWSHTSPEDPCFASQNRVYNDIGKEMLLHAFEGYNVCIFAYGQTGAGKSYTMMGKQEESQAGIIPQLCEELFEKINDNCNEEMSY SVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVEDLSKLAVTSYTDIADLMDAGNKARTVAATNMNETSSRSHAVFTIVFTQKKH DNETNLSTEKVSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEVSKKKKKTDFIPYRDSVLTWLLRENLGGNSRTA MVAALSPADINYDETLSTLRYADRAKQIKCNAVINEDPNAKLVRELKEEVTRLKDLLRAQGLGDIIDTSMGSLTSSPSSCSLSSQVGLTS VTSIQERIMSTPGGEEAIERLKESEKIIAELNETWEEKLRKTEAIRMEREALLAEMGVAIREDGGTLGVFSPKKTPHLVNLNEDPLMSEC LLYYIKDGITRVGQADAERRQDIVLSGAHIKEEHCIFRSERSNSGEVIVTLEPCERSETYVNGKRVSQPVQLRSGNRIIMGKNHVFRFNH PEQARAEREKTPSAETPSEPVDWTFAQRELLEKQGIDMKQEMEKRLQEMEILYKKEKEEADLLLEQQRLDYESKLQALQKQVETRSLAAE TTEEEEEEEEVPWTQHEFELAQWAFRKWKSHQFTSLRDLLWGNAVYLKEANAISVELKKKVQFQFVLLTDTLYSPLPPELLPTEMEKTHE DRPFPRTVVAVEVQDLKNGATHYWSLEKLKQRLDLMREMYDRAGEMASSAQDESETTVTGSDPFYDRFHWFKLVGSSPIFHGCVNERLAD RTPSPTFSTADSDITELADEQQDEMEDFDDEAFVDDAGSDAGTEEGSDLFSDGHDPFYDRSPWFILVGRAFVYLSNLLYPVPLIHRVAIV SEKGEVRGFLRVAVQAIAADEEAPDYGSGIRQSGTAKISFDNEYFNQSDFSSVAMTRSGLSLEELRIVEGQGQSSEVITPPEEISRINDL DLKSSTLLDGKMVMEGFSEEIGNHLKLGSAFTFRVTVLQASGILPEYADIFCQFNFLHRHDEAFSTEPLKNNGRGSPLAFYHVQNIAVEI TESFVDYIKTKPIVFEVFGHYQQHPLHLQGQELNSPPQPCRRFFPPPMPLSKPGTRKSFDHLISDTKAPKRQEMESGITTPPKMRRVAET DYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNLLDSKI NTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDALIDTYLPGIDEETSEESL -------------------------------------------------------------- >42603_42603_2_KIF1B-NF1_KIF1B_chr1_10403345_ENST00000263934_NF1_chr17_29683478_ENST00000358273_length(amino acids)=1524AA_BP=1223 MLTRSARRSAARLRKLGCNFKRRFDSLFLDCIYIYNKAIKMSGASVKVAVRVRPFNSRETSKESKCIIQMQGNSTSIINPKNPKEAPKSF SFDYSYWSHTSPEDPCFASQNRVYNDIGKEMLLHAFEGYNVCIFAYGQTGAGKSYTMMGKQEESQAGIIPQLCEELFEKINDNCNEEMSY SVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVEDLSKLAVTSYTDIADLMDAGNKARTVAATNMNETSSRSHAVFTIVFTQKKH DNETNLSTEKVSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEVSKKKKKTDFIPYRDSVLTWLLRENLGGNSRTA MVAALSPADINYDETLSTLRYADRAKQIKCNAVINEDPNAKLVRELKEEVTRLKDLLRAQGLGDIIDTSMGSLTSSPSSCSLSSQVGLTS VTSIQERIMSTPGGEEAIERLKESEKIIAELNETWEEKLRKTEAIRMEREALLAEMGVAIREDGGTLGVFSPKKTPHLVNLNEDPLMSEC LLYYIKDGITRVGQADAERRQDIVLSGAHIKEEHCIFRSERSNSGEVIVTLEPCERSETYVNGKRVSQPVQLRSGNRIIMGKNHVFRFNH PEQARAEREKTPSAETPSEPVDWTFAQRELLEKQGIDMKQEMEKRLQEMEILYKKEKEEADLLLEQQRLDYESKLQALQKQVETRSLAAE TTEEEEEEEEVPWTQHEFELAQWAFRKWKSHQFTSLRDLLWGNAVYLKEANAISVELKKKVQFQFVLLTDTLYSPLPPELLPTEMEKTHE DRPFPRTVVAVEVQDLKNGATHYWSLEKLKQRLDLMREMYDRAGEMASSAQDESETTVTGSDPFYDRFHWFKLVGSSPIFHGCVNERLAD RTPSPTFSTADSDITELADEQQDEMEDFDDEAFVDDAGSDAGTEEGSDLFSDGHDPFYDRSPWFILVGRAFVYLSNLLYPVPLIHRVAIV SEKGEVRGFLRVAVQAIAADEEAPDYGSGIRQSGTAKISFDNEYFNQSDFSSVAMTRSGLSLEELRIVEGQGQSSEVITPPEEISRINDL DLKSSTLLDGKMVMEGFSEEIGNHLKLGSAFTFRVTVLQASGILPEYADIFCQFNFLHRHDEAFSTEPLKNNGRGSPLAFYHVQNIAVEI TESFVDYIKTKPIVFEVFGHYQQHPLHLQGQELNSPPQPCRRFFPPPMPLSKPGTRKSFDHLISDTKAPKRQEMESGITTPPKMRRVAET DYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNLLDSKI NTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDALIDTYLPGIDEETSEESL -------------------------------------------------------------- >42603_42603_3_KIF1B-NF1_KIF1B_chr1_10403345_ENST00000377081_NF1_chr17_29683478_ENST00000356175_length(amino acids)=1542AA_BP=1241 MDCIYIYNKAIKMSGASVKVAVRVRPFNSRETSKESKCIIQMQGNSTSIINPKNPKEAPKSFSFDYSYWSHTSPEDPCFASQNRVYNDIG KEMLLHAFEGYNVCIFAYGQTGAGKSYTMMGKQEESQAGIIPQLCEELFEKINDNCNEEMSYSVEVSYMEIYCERVRDLLNPKNKGNLRV REHPLLGPYVEDLSKLAVTSYTDIADLMDAGNKARTVAATNMNETSSRSHAVFTIVFTQKKHDNETNLSTEKVSKISLVDLAGSERADST GAKGTRLKEGANINKSLTTLGKVISALAEVDNCTSKSKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYA DRAKQIKCNAVINEDPNAKLVRELKEEVTRLKDLLRAQGLGDIIDIDPLIDDYSGSGSKYLKDFQNNKHRYLLASENQRPGHFSTASMGS LTSSPSSCSLSSQVGLTSVTSIQERIMSTPGGEEAIERLKESEKIIAELNETWEEKLRKTEAIRMEREALLAEMGVAIREDGGTLGVFSP KKTPHLVNLNEDPLMSECLLYYIKDGITRVGQADAERRQDIVLSGAHIKEEHCIFRSERSNSGEVIVTLEPCERSETYVNGKRVSQPVQL RSGNRIIMGKNHVFRFNHPEQARAEREKTPSAETPSEPVDWTFAQRELLEKQGIDMKQEMEKRLQEMEILYKKEKEEADLLLEQQRLDYE SKLQALQKQVETRSLAAETTEEEEEEEEVPWTQHEFELAQWAFRKWKSHQFTSLRDLLWGNAVYLKEANAISVELKKKVQFQFVLLTDTL YSPLPPELLPTEMEKTHEDRPFPRTVVAVEVQDLKNGATHYWSLEKLKQRLDLMREMYDRAGEMASSAQDESETTVTGSDPFYDRFHWFK LVGSSPIFHGCVNERLADRTPSPTFSTADSDITELADEQQDEMEDFDDEAFVDDAGSDAGTEEGSDLFSDGHDPFYDRSPWFILVGRAFV YLSNLLYPVPLIHRVAIVSEKGEVRGFLRVAVQAIAADEEAPDYGSGIRQSGTAKISFDNEYFNQSDFSSVAMTRSGLSLEELRIVEGQG QSSEVITPPEEISRINDLDLKSSTLLDGKMVMEGFSEEIGNHLKLGSAFTFRVTVLQASGILPEYADIFCQFNFLHRHDEAFSTEPLKNN GRGSPLAFYHVQNIAVEITESFVDYIKTKPIVFEVFGHYQQHPLHLQGQELNSPPQPCRRFFPPPMPLSKPGTRKSFDHLISDTKAPKRQ EMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEAS VVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDA LIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRTRHGSASQVQKQRSA -------------------------------------------------------------- >42603_42603_4_KIF1B-NF1_KIF1B_chr1_10403345_ENST00000377081_NF1_chr17_29683478_ENST00000358273_length(amino acids)=1542AA_BP=1241 MDCIYIYNKAIKMSGASVKVAVRVRPFNSRETSKESKCIIQMQGNSTSIINPKNPKEAPKSFSFDYSYWSHTSPEDPCFASQNRVYNDIG KEMLLHAFEGYNVCIFAYGQTGAGKSYTMMGKQEESQAGIIPQLCEELFEKINDNCNEEMSYSVEVSYMEIYCERVRDLLNPKNKGNLRV REHPLLGPYVEDLSKLAVTSYTDIADLMDAGNKARTVAATNMNETSSRSHAVFTIVFTQKKHDNETNLSTEKVSKISLVDLAGSERADST GAKGTRLKEGANINKSLTTLGKVISALAEVDNCTSKSKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYA DRAKQIKCNAVINEDPNAKLVRELKEEVTRLKDLLRAQGLGDIIDIDPLIDDYSGSGSKYLKDFQNNKHRYLLASENQRPGHFSTASMGS LTSSPSSCSLSSQVGLTSVTSIQERIMSTPGGEEAIERLKESEKIIAELNETWEEKLRKTEAIRMEREALLAEMGVAIREDGGTLGVFSP KKTPHLVNLNEDPLMSECLLYYIKDGITRVGQADAERRQDIVLSGAHIKEEHCIFRSERSNSGEVIVTLEPCERSETYVNGKRVSQPVQL RSGNRIIMGKNHVFRFNHPEQARAEREKTPSAETPSEPVDWTFAQRELLEKQGIDMKQEMEKRLQEMEILYKKEKEEADLLLEQQRLDYE SKLQALQKQVETRSLAAETTEEEEEEEEVPWTQHEFELAQWAFRKWKSHQFTSLRDLLWGNAVYLKEANAISVELKKKVQFQFVLLTDTL YSPLPPELLPTEMEKTHEDRPFPRTVVAVEVQDLKNGATHYWSLEKLKQRLDLMREMYDRAGEMASSAQDESETTVTGSDPFYDRFHWFK LVGSSPIFHGCVNERLADRTPSPTFSTADSDITELADEQQDEMEDFDDEAFVDDAGSDAGTEEGSDLFSDGHDPFYDRSPWFILVGRAFV YLSNLLYPVPLIHRVAIVSEKGEVRGFLRVAVQAIAADEEAPDYGSGIRQSGTAKISFDNEYFNQSDFSSVAMTRSGLSLEELRIVEGQG QSSEVITPPEEISRINDLDLKSSTLLDGKMVMEGFSEEIGNHLKLGSAFTFRVTVLQASGILPEYADIFCQFNFLHRHDEAFSTEPLKNN GRGSPLAFYHVQNIAVEITESFVDYIKTKPIVFEVFGHYQQHPLHLQGQELNSPPQPCRRFFPPPMPLSKPGTRKSFDHLISDTKAPKRQ EMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEAS VVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDA LIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRTRHGSASQVQKQRSA -------------------------------------------------------------- >42603_42603_5_KIF1B-NF1_KIF1B_chr1_10403345_ENST00000377086_NF1_chr17_29683478_ENST00000356175_length(amino acids)=1563AA_BP=1262 MLNELPRKLGCNFKRRFDSLFLDCIYIYNKAIKMSGASVKVAVRVRPFNSRETSKESKCIIQMQGNSTSIINPKNPKEAPKSFSFDYSYW SHTSPEDPCFASQNRVYNDIGKEMLLHAFEGYNVCIFAYGQTGAGKSYTMMGKQEESQAGIIPQLCEELFEKINDNCNEEMSYSVEVSYM EIYCERVRDLLNPKNKGNLRVREHPLLGPYVEDLSKLAVTSYTDIADLMDAGNKARTVAATNMNETSSRSHAVFTIVFTQKKHDNETNLS TEKVSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEVDNCTSKSKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAM VAALSPADINYDETLSTLRYADRAKQIKCNAVINEDPNAKLVRELKEEVTRLKDLLRAQGLGDIIDIDPLIDDYSGSGSKYLKDFQNNKH RYLLASENQRPGHFSTASMGSLTSSPSSCSLSSQVGLTSVTSIQERIMSTPGGEEAIERLKESEKIIAELNETWEEKLRKTEAIRMEREA LLAEMGVAIREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGQADAERRQDIVLSGAHIKEEHCIFRSERSNSGEVIVTL EPCERSETYVNGKRVSQPVQLRSGNRIIMGKNHVFRFNHPEQARAEREKTPSAETPSEPVDWTFAQRELLEKQGIDMKQEMEKRLQEMEI LYKKEKEEADLLLEQQRLDYESKLQALQKQVETRSLAAETTEEEEEEEEVPWTQHEFELAQWAFRKWKSHQFTSLRDLLWGNAVYLKEAN AISVELKKKVQFQFVLLTDTLYSPLPPELLPTEMEKTHEDRPFPRTVVAVEVQDLKNGATHYWSLEKLKQRLDLMREMYDRAGEMASSAQ DESETTVTGSDPFYDRFHWFKLVGSSPIFHGCVNERLADRTPSPTFSTADSDITELADEQQDEMEDFDDEAFVDDAGSDAGTEEGSDLFS DGHDPFYDRSPWFILVGRAFVYLSNLLYPVPLIHRVAIVSEKGEVRGFLRVAVQAIAADEEAPDYGSGIRQSGTAKISFDNEYFNQSDFS SVAMTRSGLSLEELRIVEGQGQSSEVITPPEEISRINDLDLKSSTLLDGKMVMEGFSEEIGNHLKLGSAFTFRVTVLQASGILPEYADIF CQFNFLHRHDEAFSTEPLKNNGRGSPLAFYHVQNIAVEITESFVDYIKTKPIVFEVFGHYQQHPLHLQGQELNSPPQPCRRFFPPPMPLS KPGTRKSFDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATL VKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAG PFSKQTQIPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTG -------------------------------------------------------------- >42603_42603_6_KIF1B-NF1_KIF1B_chr1_10403345_ENST00000377086_NF1_chr17_29683478_ENST00000358273_length(amino acids)=1563AA_BP=1262 MLNELPRKLGCNFKRRFDSLFLDCIYIYNKAIKMSGASVKVAVRVRPFNSRETSKESKCIIQMQGNSTSIINPKNPKEAPKSFSFDYSYW SHTSPEDPCFASQNRVYNDIGKEMLLHAFEGYNVCIFAYGQTGAGKSYTMMGKQEESQAGIIPQLCEELFEKINDNCNEEMSYSVEVSYM EIYCERVRDLLNPKNKGNLRVREHPLLGPYVEDLSKLAVTSYTDIADLMDAGNKARTVAATNMNETSSRSHAVFTIVFTQKKHDNETNLS TEKVSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGKVISALAEVDNCTSKSKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAM VAALSPADINYDETLSTLRYADRAKQIKCNAVINEDPNAKLVRELKEEVTRLKDLLRAQGLGDIIDIDPLIDDYSGSGSKYLKDFQNNKH RYLLASENQRPGHFSTASMGSLTSSPSSCSLSSQVGLTSVTSIQERIMSTPGGEEAIERLKESEKIIAELNETWEEKLRKTEAIRMEREA LLAEMGVAIREDGGTLGVFSPKKTPHLVNLNEDPLMSECLLYYIKDGITRVGQADAERRQDIVLSGAHIKEEHCIFRSERSNSGEVIVTL EPCERSETYVNGKRVSQPVQLRSGNRIIMGKNHVFRFNHPEQARAEREKTPSAETPSEPVDWTFAQRELLEKQGIDMKQEMEKRLQEMEI LYKKEKEEADLLLEQQRLDYESKLQALQKQVETRSLAAETTEEEEEEEEVPWTQHEFELAQWAFRKWKSHQFTSLRDLLWGNAVYLKEAN AISVELKKKVQFQFVLLTDTLYSPLPPELLPTEMEKTHEDRPFPRTVVAVEVQDLKNGATHYWSLEKLKQRLDLMREMYDRAGEMASSAQ DESETTVTGSDPFYDRFHWFKLVGSSPIFHGCVNERLADRTPSPTFSTADSDITELADEQQDEMEDFDDEAFVDDAGSDAGTEEGSDLFS DGHDPFYDRSPWFILVGRAFVYLSNLLYPVPLIHRVAIVSEKGEVRGFLRVAVQAIAADEEAPDYGSGIRQSGTAKISFDNEYFNQSDFS SVAMTRSGLSLEELRIVEGQGQSSEVITPPEEISRINDLDLKSSTLLDGKMVMEGFSEEIGNHLKLGSAFTFRVTVLQASGILPEYADIF CQFNFLHRHDEAFSTEPLKNNGRGSPLAFYHVQNIAVEITESFVDYIKTKPIVFEVFGHYQQHPLHLQGQELNSPPQPCRRFFPPPMPLS KPGTRKSFDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATL VKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAG PFSKQTQIPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTG -------------------------------------------------------------- |
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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/chr1:10403345/chr17:29683478) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
KIF1B | NF1 |
FUNCTION: Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis. {ECO:0000269|PubMed:18334619}.; FUNCTION: Isoform 1 mediates the transport of synaptic vesicles in neuronal cells. {ECO:0000250|UniProtKB:O88658}. | 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}. |
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 | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000263934 | + | 32 | 47 | 365_386 | 1183.3333333333333 | 1771.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000263934 | + | 32 | 47 | 470_502 | 1183.3333333333333 | 1771.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000263934 | + | 32 | 47 | 668_737 | 1183.3333333333333 | 1771.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000263934 | + | 32 | 47 | 841_869 | 1183.3333333333333 | 1771.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377081 | + | 33 | 48 | 365_386 | 1229.3333333333333 | 1824.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377081 | + | 33 | 48 | 470_502 | 1229.3333333333333 | 1824.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377081 | + | 33 | 48 | 668_737 | 1229.3333333333333 | 1824.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377081 | + | 33 | 48 | 841_869 | 1229.3333333333333 | 1824.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377086 | + | 34 | 49 | 365_386 | 1229.3333333333333 | 1817.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377086 | + | 34 | 49 | 470_502 | 1229.3333333333333 | 1817.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377086 | + | 34 | 49 | 668_737 | 1229.3333333333333 | 1817.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377086 | + | 34 | 49 | 841_869 | 1229.3333333333333 | 1817.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000263934 | + | 32 | 47 | 556_612 | 1183.3333333333333 | 1771.0 | Domain | FHA |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000263934 | + | 32 | 47 | 5_354 | 1183.3333333333333 | 1771.0 | Domain | Kinesin motor |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377081 | + | 33 | 48 | 556_612 | 1229.3333333333333 | 1824.0 | Domain | FHA |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377081 | + | 33 | 48 | 5_354 | 1229.3333333333333 | 1824.0 | Domain | Kinesin motor |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377086 | + | 34 | 49 | 556_612 | 1229.3333333333333 | 1817.0 | Domain | FHA |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377086 | + | 34 | 49 | 5_354 | 1229.3333333333333 | 1817.0 | Domain | Kinesin motor |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000263934 | + | 32 | 47 | 97_104 | 1183.3333333333333 | 1771.0 | Nucleotide binding | ATP |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377081 | + | 33 | 48 | 97_104 | 1229.3333333333333 | 1824.0 | Nucleotide binding | ATP |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377086 | + | 34 | 49 | 97_104 | 1229.3333333333333 | 1817.0 | Nucleotide binding | ATP |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000431387 | 0 | 15 | 1352_1355 | 0 | 594.0 | Compositional bias | Note=Poly-Ser | |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000431387 | 0 | 15 | 1235_1451 | 0 | 594.0 | Domain | Ras-GAP | |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000431387 | 0 | 15 | 1580_1738 | 0 | 594.0 | Domain | CRAL-TRIO | |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000356175 | 49 | 57 | 2555_2571 | 2517.3333333333335 | 2819.0 | Motif | Note=Bipartite nuclear localization signal | |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000358273 | 50 | 58 | 2555_2571 | 2538.3333333333335 | 2840.0 | Motif | Note=Bipartite nuclear localization signal | |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000431387 | 0 | 15 | 2555_2571 | 0 | 594.0 | Motif | Note=Bipartite nuclear localization signal | |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000431387 | 0 | 15 | 1580_1837 | 0 | 594.0 | Region | Note=Lipid binding |
- 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 | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377083 | + | 1 | 21 | 365_386 | 0 | 1154.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377083 | + | 1 | 21 | 470_502 | 0 | 1154.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377083 | + | 1 | 21 | 668_737 | 0 | 1154.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377083 | + | 1 | 21 | 841_869 | 0 | 1154.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377093 | + | 1 | 21 | 365_386 | 0 | 1154.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377093 | + | 1 | 21 | 470_502 | 0 | 1154.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377093 | + | 1 | 21 | 668_737 | 0 | 1154.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377093 | + | 1 | 21 | 841_869 | 0 | 1154.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000263934 | + | 32 | 47 | 1702_1799 | 1183.3333333333333 | 1771.0 | Domain | PH |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377081 | + | 33 | 48 | 1702_1799 | 1229.3333333333333 | 1824.0 | Domain | PH |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377083 | + | 1 | 21 | 1702_1799 | 0 | 1154.0 | Domain | PH |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377083 | + | 1 | 21 | 556_612 | 0 | 1154.0 | Domain | FHA |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377083 | + | 1 | 21 | 5_354 | 0 | 1154.0 | Domain | Kinesin motor |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377086 | + | 34 | 49 | 1702_1799 | 1229.3333333333333 | 1817.0 | Domain | PH |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377093 | + | 1 | 21 | 1702_1799 | 0 | 1154.0 | Domain | PH |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377093 | + | 1 | 21 | 556_612 | 0 | 1154.0 | Domain | FHA |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377093 | + | 1 | 21 | 5_354 | 0 | 1154.0 | Domain | Kinesin motor |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377083 | + | 1 | 21 | 97_104 | 0 | 1154.0 | Nucleotide binding | ATP |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377093 | + | 1 | 21 | 97_104 | 0 | 1154.0 | Nucleotide binding | ATP |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000356175 | 49 | 57 | 1352_1355 | 2517.3333333333335 | 2819.0 | Compositional bias | Note=Poly-Ser | |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000358273 | 50 | 58 | 1352_1355 | 2538.3333333333335 | 2840.0 | Compositional bias | Note=Poly-Ser | |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000356175 | 49 | 57 | 1235_1451 | 2517.3333333333335 | 2819.0 | Domain | Ras-GAP | |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000356175 | 49 | 57 | 1580_1738 | 2517.3333333333335 | 2819.0 | Domain | CRAL-TRIO | |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000358273 | 50 | 58 | 1235_1451 | 2538.3333333333335 | 2840.0 | Domain | Ras-GAP | |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000358273 | 50 | 58 | 1580_1738 | 2538.3333333333335 | 2840.0 | Domain | CRAL-TRIO | |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000356175 | 49 | 57 | 1580_1837 | 2517.3333333333335 | 2819.0 | Region | Note=Lipid binding | |
Tgene | NF1 | chr1:10403345 | chr17:29683478 | ENST00000358273 | 50 | 58 | 1580_1837 | 2538.3333333333335 | 2840.0 | Region | Note=Lipid binding |
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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 |
KIF1B | |
NF1 |
- 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 |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377083 | + | 1 | 21 | 270_350 | 0 | 1154.0 | KBP |
Hgene | KIF1B | chr1:10403345 | chr17:29683478 | ENST00000377093 | + | 1 | 21 | 270_350 | 0 | 1154.0 | KBP |
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Related Drugs to KIF1B-NF1 |
Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to KIF1B-NF1 |
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 |
Tgene | NF1 | C0027831 | Neurofibromatosis 1 | 44 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | NF1 | C1708353 | Hereditary Paraganglioma-Pheochromocytoma Syndrome | 10 | CLINGEN |
Tgene | NF1 | C0349639 | Juvenile Myelomonocytic Leukemia | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | NF1 | C2931482 | Neurofibromatosis-Noonan syndrome | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | NF1 | C0553586 | Cafe-au-lait macules with pulmonary stenosis | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | NF1 | C0162678 | Neurofibromatoses | 3 | CGI;CTD_human;GENOMICS_ENGLAND |
Tgene | NF1 | C0004114 | Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
Tgene | NF1 | C0025202 | melanoma | 2 | CGI;CTD_human |
Tgene | NF1 | C0026998 | Acute Myeloid Leukemia, M1 | 2 | CTD_human |
Tgene | NF1 | C0205768 | Subependymal Giant Cell Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0206727 | Nerve Sheath Tumors | 2 | CTD_human |
Tgene | NF1 | C0280783 | Juvenile Pilocytic Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0280785 | Diffuse Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0334579 | Anaplastic astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0334580 | Protoplasmic astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0334581 | Gemistocytic astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0334582 | Fibrillary Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0334583 | Pilocytic Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0338070 | Childhood Cerebral Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0547065 | Mixed oligoastrocytoma | 2 | CTD_human |
Tgene | NF1 | C0750935 | Cerebral Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0750936 | Intracranial Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C0751689 | Peripheral Nerve Sheath Neoplasm | 2 | CTD_human |
Tgene | NF1 | C0751691 | Perineurioma | 2 | CTD_human |
Tgene | NF1 | C1704230 | Grade I Astrocytoma | 2 | CTD_human |
Tgene | NF1 | C1834235 | NEUROFIBROMATOSIS, FAMILIAL SPINAL | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | NF1 | C1879321 | Acute Myeloid Leukemia (AML-M2) | 2 | CTD_human |
Tgene | NF1 | C0001430 | Adenoma | 1 | CTD_human |
Tgene | NF1 | C0004352 | Autistic Disorder | 1 | CTD_human |
Tgene | NF1 | C0016057 | Fibrosarcoma | 1 | CTD_human |
Tgene | NF1 | C0017636 | Glioblastoma | 1 | CTD_human |
Tgene | NF1 | C0017638 | Glioma | 1 | CGI;CTD_human |
Tgene | NF1 | C0020796 | Profound Mental Retardation | 1 | CTD_human |
Tgene | NF1 | C0023186 | Learning Disorders | 1 | CTD_human |
Tgene | NF1 | C0023827 | liposarcoma | 1 | CTD_human |
Tgene | NF1 | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human |
Tgene | NF1 | C0026654 | Moyamoya Disease | 1 | GENOMICS_ENGLAND |
Tgene | NF1 | C0027809 | Neurilemmoma | 1 | CTD_human |
Tgene | NF1 | C0027830 | neurofibroma | 1 | CTD_human |
Tgene | NF1 | C0027962 | Melanocytic nevus | 1 | CTD_human |
Tgene | NF1 | C0028326 | Noonan Syndrome | 1 | GENOMICS_ENGLAND |
Tgene | NF1 | C0031511 | Pheochromocytoma | 1 | CTD_human |
Tgene | NF1 | C0035320 | Retinal Neovascularization | 1 | CTD_human |
Tgene | NF1 | C0205646 | Adenoma, Basal Cell | 1 | CTD_human |
Tgene | NF1 | C0205647 | Follicular adenoma | 1 | CTD_human |
Tgene | NF1 | C0205648 | Adenoma, Microcystic | 1 | CTD_human |
Tgene | NF1 | C0205649 | Adenoma, Monomorphic | 1 | CTD_human |
Tgene | NF1 | C0205650 | Papillary adenoma | 1 | CTD_human |
Tgene | NF1 | C0205651 | Adenoma, Trabecular | 1 | CTD_human |
Tgene | NF1 | C0205824 | Liposarcoma, Dedifferentiated | 1 | CTD_human |
Tgene | NF1 | C0205825 | Liposarcoma, Pleomorphic | 1 | CTD_human |
Tgene | NF1 | C0205944 | Sarcoma, Epithelioid | 1 | CTD_human |
Tgene | NF1 | C0205945 | Sarcoma, Spindle Cell | 1 | CTD_human |
Tgene | NF1 | C0259783 | mixed gliomas | 1 | CTD_human |
Tgene | NF1 | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human |
Tgene | NF1 | C0555198 | Malignant Glioma | 1 | CTD_human |
Tgene | NF1 | C0751262 | Adult Learning Disorders | 1 | CTD_human |
Tgene | NF1 | C0751263 | Learning Disturbance | 1 | CTD_human |
Tgene | NF1 | C0751265 | Learning Disabilities | 1 | CTD_human |
Tgene | NF1 | C0751374 | Schwannomatosis, Plexiform | 1 | CTD_human |
Tgene | NF1 | C0917816 | Mental deficiency | 1 | CTD_human |
Tgene | NF1 | C0917817 | Neurofibromatosis 3 | 1 | CTD_human |
Tgene | NF1 | C1257877 | Pheochromocytoma, Extra-Adrenal | 1 | CTD_human |
Tgene | NF1 | C1261473 | Sarcoma | 1 | CTD_human |
Tgene | NF1 | C1330966 | Developmental Academic Disorder | 1 | CTD_human |
Tgene | NF1 | C1370889 | Liposarcoma, well differentiated | 1 | CTD_human |
Tgene | NF1 | C1621958 | Glioblastoma Multiforme | 1 | CTD_human |
Tgene | NF1 | C3150928 | NF1 Microdeletion Syndrome | 1 | ORPHANET |
Tgene | NF1 | C3714756 | Intellectual Disability | 1 | CTD_human |