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Fusion Protein:IFT81-INSR |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: IFT81-INSR | FusionPDB ID: 38451 | FusionGDB2.0 ID: 38451 | Hgene | Tgene | Gene symbol | IFT81 | INSR | Gene ID | 28981 | 3643 |
| Gene name | intraflagellar transport 81 | insulin receptor | |
| Synonyms | CDV-1|CDV-1R|CDV1|CDV1R|DV1|SRTD19 | CD220|HHF5 | |
| Cytomap | 12q24.11 | 19p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | intraflagellar transport protein 81 homologcarnitine deficiency-associated gene expressed in ventricle 1carnitine deficiency-associated protein expressed in ventricle 1 | insulin receptorIR | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q8WYA0 | P06213 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000549009, ENST00000242591, ENST00000361948, ENST00000552912, | ENST00000302850, ENST00000341500, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 6 X 6 X 5=180 | 20 X 13 X 8=2080 |
| # samples | 6 | 20 | |
| ** MAII score | log2(6/180*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(20/2080*10)=-3.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: IFT81 [Title/Abstract] AND INSR [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | IFT81(110574665)-INSR(7184648), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | IFT81-INSR 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. IFT81-INSR 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. IFT81-INSR 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. IFT81-INSR 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 | INSR | GO:0001934 | positive regulation of protein phosphorylation | 7556070 |
| Tgene | INSR | GO:0002092 | positive regulation of receptor internalization | 25401701 |
| Tgene | INSR | GO:0007186 | G protein-coupled receptor signaling pathway | 9092559 |
| Tgene | INSR | GO:0008284 | positive regulation of cell proliferation | 17925406 |
| Tgene | INSR | GO:0008286 | insulin receptor signaling pathway | 6849137|8440175|20455999 |
| Tgene | INSR | GO:0018108 | peptidyl-tyrosine phosphorylation | 8496180 |
| Tgene | INSR | GO:0032148 | activation of protein kinase B activity | 7556070 |
| Tgene | INSR | GO:0032869 | cellular response to insulin stimulus | 8440175 |
| Tgene | INSR | GO:0043410 | positive regulation of MAPK cascade | 20455999 |
| Tgene | INSR | GO:0045725 | positive regulation of glycogen biosynthetic process | 17925406 |
| Tgene | INSR | GO:0046326 | positive regulation of glucose import | 3518947 |
| Tgene | INSR | GO:0046777 | protein autophosphorylation | 6849137|8496180 |
| Tgene | INSR | GO:0060267 | positive regulation of respiratory burst | 9092559 |
| Fusion gene breakpoints across IFT81 (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 INSR (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 | SARC | TCGA-3B-A9HS-01A | IFT81 | chr12 | 110574665 | - | INSR | chr19 | 7184648 | - |
| ChimerDB4 | SARC | TCGA-3B-A9HS-01A | IFT81 | chr12 | 110574665 | + | INSR | chr19 | 7184648 | - |
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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) |
| ENST00000552912 | IFT81 | chr12 | 110574665 | + | ENST00000341500 | INSR | chr19 | 7184648 | - | 9173 | 911 | 130 | 4371 | 1413 |
| ENST00000552912 | IFT81 | chr12 | 110574665 | + | ENST00000302850 | INSR | chr19 | 7184648 | - | 4837 | 911 | 130 | 4407 | 1425 |
| ENST00000242591 | IFT81 | chr12 | 110574665 | + | ENST00000341500 | INSR | chr19 | 7184648 | - | 9549 | 1287 | 506 | 4747 | 1413 |
| ENST00000242591 | IFT81 | chr12 | 110574665 | + | ENST00000302850 | INSR | chr19 | 7184648 | - | 5213 | 1287 | 506 | 4783 | 1425 |
| ENST00000361948 | IFT81 | chr12 | 110574665 | + | ENST00000341500 | INSR | chr19 | 7184648 | - | 9591 | 1329 | 548 | 4789 | 1413 |
| ENST00000361948 | IFT81 | chr12 | 110574665 | + | ENST00000302850 | INSR | chr19 | 7184648 | - | 5255 | 1329 | 548 | 4825 | 1425 |
| 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 |
| ENST00000552912 | ENST00000341500 | IFT81 | chr12 | 110574665 | + | INSR | chr19 | 7184648 | - | 0.00018766 | 0.9998123 |
| ENST00000552912 | ENST00000302850 | IFT81 | chr12 | 110574665 | + | INSR | chr19 | 7184648 | - | 0.001494486 | 0.9985056 |
| ENST00000242591 | ENST00000341500 | IFT81 | chr12 | 110574665 | + | INSR | chr19 | 7184648 | - | 0.000275455 | 0.99972457 |
| ENST00000242591 | ENST00000302850 | IFT81 | chr12 | 110574665 | + | INSR | chr19 | 7184648 | - | 0.001947399 | 0.9980526 |
| ENST00000361948 | ENST00000341500 | IFT81 | chr12 | 110574665 | + | INSR | chr19 | 7184648 | - | 0.000296929 | 0.999703 |
| ENST00000361948 | ENST00000302850 | IFT81 | chr12 | 110574665 | + | INSR | chr19 | 7184648 | - | 0.002113861 | 0.9978861 |
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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 >38451_38451_1_IFT81-INSR_IFT81_chr12_110574665_ENST00000242591_INSR_chr19_7184648_ENST00000302850_length(amino acids)=1425AA_BP=261 MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQTAKRMLSLLGILKYKPSGNATDMSTFRQGL VIGSKPVIYPVLHWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQLKISGFSTAEIRKDISAMEE EKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRLQRVQNQLKSMRQAAADAKPEICPTICKSHG CTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYHFQDWRCVNFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPS GYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDSVTSAQELRGCTVINGSLIINIRGGNNLAAELEANLGLIEEISGYLKIRRSYALVSLS FFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVSGTKGRQERNDIALKTNGDQASCEN ELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQNHPGWLMRGLKPWT QYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYCLKG LKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRKTSSGTGAEDPRPSRKRRSLGDV GNVTVAVPTVAAFPNTSSTSVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQACNQDTPEERCSVAAYVSARTMPEAKADDIVGPV THEIFENNVVHLMWQEPKEPNGLIVLYEVSYRRYGDEELHLCVSRKHFALERGCRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDY LDVPSNIAKIIIGPLIFVFLFSVVIGSIYLFLRKRQPDGPLGPLYASSNPEYLSASDVFPCSVYVPDEWEVSREKITLLRELGQGSFGMV YEGNARDIIKGEAETRVAVKTVNESASLRERIEFLNEASVMKGFTCHHVVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRPEAENNPG RPPPTLQEMIQMAAEIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKIGDFGMTRDIYETDYYRKGGKGLLPVRWMAPESLKDGVFTTSS DMWSFGVVLWEITSLAEQPYQGLSNEQVLKFVMDGGYLDQPDNCPERVTDLMRMCWQFNPKMRPTFLEIVNLLKDDLHPSFPEVSFFHSE -------------------------------------------------------------- >38451_38451_2_IFT81-INSR_IFT81_chr12_110574665_ENST00000242591_INSR_chr19_7184648_ENST00000341500_length(amino acids)=1413AA_BP=261 MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQTAKRMLSLLGILKYKPSGNATDMSTFRQGL VIGSKPVIYPVLHWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQLKISGFSTAEIRKDISAMEE EKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRLQRVQNQLKSMRQAAADAKPEICPTICKSHG CTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYHFQDWRCVNFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPS GYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDSVTSAQELRGCTVINGSLIINIRGGNNLAAELEANLGLIEEISGYLKIRRSYALVSLS FFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVSGTKGRQERNDIALKTNGDQASCEN ELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQNHPGWLMRGLKPWT QYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYCLKG LKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRPSRKRRSLGDVGNVTVAVPTVAA FPNTSSTSVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQACNQDTPEERCSVAAYVSARTMPEAKADDIVGPVTHEIFENNVVHL MWQEPKEPNGLIVLYEVSYRRYGDEELHLCVSRKHFALERGCRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDYLDVPSNIAKIII GPLIFVFLFSVVIGSIYLFLRKRQPDGPLGPLYASSNPEYLSASDVFPCSVYVPDEWEVSREKITLLRELGQGSFGMVYEGNARDIIKGE AETRVAVKTVNESASLRERIEFLNEASVMKGFTCHHVVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRPEAENNPGRPPPTLQEMIQM AAEIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKIGDFGMTRDIYETDYYRKGGKGLLPVRWMAPESLKDGVFTTSSDMWSFGVVLWEI TSLAEQPYQGLSNEQVLKFVMDGGYLDQPDNCPERVTDLMRMCWQFNPKMRPTFLEIVNLLKDDLHPSFPEVSFFHSEENKAPESEELEM -------------------------------------------------------------- >38451_38451_3_IFT81-INSR_IFT81_chr12_110574665_ENST00000361948_INSR_chr19_7184648_ENST00000302850_length(amino acids)=1425AA_BP=261 MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQTAKRMLSLLGILKYKPSGNATDMSTFRQGL VIGSKPVIYPVLHWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQLKISGFSTAEIRKDISAMEE EKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRLQRVQNQLKSMRQAAADAKPEICPTICKSHG CTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYHFQDWRCVNFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPS GYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDSVTSAQELRGCTVINGSLIINIRGGNNLAAELEANLGLIEEISGYLKIRRSYALVSLS FFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVSGTKGRQERNDIALKTNGDQASCEN ELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQNHPGWLMRGLKPWT QYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYCLKG LKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRKTSSGTGAEDPRPSRKRRSLGDV GNVTVAVPTVAAFPNTSSTSVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQACNQDTPEERCSVAAYVSARTMPEAKADDIVGPV THEIFENNVVHLMWQEPKEPNGLIVLYEVSYRRYGDEELHLCVSRKHFALERGCRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDY LDVPSNIAKIIIGPLIFVFLFSVVIGSIYLFLRKRQPDGPLGPLYASSNPEYLSASDVFPCSVYVPDEWEVSREKITLLRELGQGSFGMV YEGNARDIIKGEAETRVAVKTVNESASLRERIEFLNEASVMKGFTCHHVVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRPEAENNPG RPPPTLQEMIQMAAEIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKIGDFGMTRDIYETDYYRKGGKGLLPVRWMAPESLKDGVFTTSS DMWSFGVVLWEITSLAEQPYQGLSNEQVLKFVMDGGYLDQPDNCPERVTDLMRMCWQFNPKMRPTFLEIVNLLKDDLHPSFPEVSFFHSE -------------------------------------------------------------- >38451_38451_4_IFT81-INSR_IFT81_chr12_110574665_ENST00000361948_INSR_chr19_7184648_ENST00000341500_length(amino acids)=1413AA_BP=261 MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQTAKRMLSLLGILKYKPSGNATDMSTFRQGL VIGSKPVIYPVLHWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQLKISGFSTAEIRKDISAMEE EKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRLQRVQNQLKSMRQAAADAKPEICPTICKSHG CTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYHFQDWRCVNFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPS GYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDSVTSAQELRGCTVINGSLIINIRGGNNLAAELEANLGLIEEISGYLKIRRSYALVSLS FFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVSGTKGRQERNDIALKTNGDQASCEN ELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQNHPGWLMRGLKPWT QYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYCLKG LKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRPSRKRRSLGDVGNVTVAVPTVAA FPNTSSTSVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQACNQDTPEERCSVAAYVSARTMPEAKADDIVGPVTHEIFENNVVHL MWQEPKEPNGLIVLYEVSYRRYGDEELHLCVSRKHFALERGCRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDYLDVPSNIAKIII GPLIFVFLFSVVIGSIYLFLRKRQPDGPLGPLYASSNPEYLSASDVFPCSVYVPDEWEVSREKITLLRELGQGSFGMVYEGNARDIIKGE AETRVAVKTVNESASLRERIEFLNEASVMKGFTCHHVVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRPEAENNPGRPPPTLQEMIQM AAEIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKIGDFGMTRDIYETDYYRKGGKGLLPVRWMAPESLKDGVFTTSSDMWSFGVVLWEI TSLAEQPYQGLSNEQVLKFVMDGGYLDQPDNCPERVTDLMRMCWQFNPKMRPTFLEIVNLLKDDLHPSFPEVSFFHSEENKAPESEELEM -------------------------------------------------------------- >38451_38451_5_IFT81-INSR_IFT81_chr12_110574665_ENST00000552912_INSR_chr19_7184648_ENST00000302850_length(amino acids)=1425AA_BP=261 MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQTAKRMLSLLGILKYKPSGNATDMSTFRQGL VIGSKPVIYPVLHWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQLKISGFSTAEIRKDISAMEE EKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRLQRVQNQLKSMRQAAADAKPEICPTICKSHG CTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYHFQDWRCVNFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPS GYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDSVTSAQELRGCTVINGSLIINIRGGNNLAAELEANLGLIEEISGYLKIRRSYALVSLS FFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVSGTKGRQERNDIALKTNGDQASCEN ELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQNHPGWLMRGLKPWT QYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYCLKG LKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRKTSSGTGAEDPRPSRKRRSLGDV GNVTVAVPTVAAFPNTSSTSVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQACNQDTPEERCSVAAYVSARTMPEAKADDIVGPV THEIFENNVVHLMWQEPKEPNGLIVLYEVSYRRYGDEELHLCVSRKHFALERGCRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDY LDVPSNIAKIIIGPLIFVFLFSVVIGSIYLFLRKRQPDGPLGPLYASSNPEYLSASDVFPCSVYVPDEWEVSREKITLLRELGQGSFGMV YEGNARDIIKGEAETRVAVKTVNESASLRERIEFLNEASVMKGFTCHHVVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRPEAENNPG RPPPTLQEMIQMAAEIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKIGDFGMTRDIYETDYYRKGGKGLLPVRWMAPESLKDGVFTTSS DMWSFGVVLWEITSLAEQPYQGLSNEQVLKFVMDGGYLDQPDNCPERVTDLMRMCWQFNPKMRPTFLEIVNLLKDDLHPSFPEVSFFHSE -------------------------------------------------------------- >38451_38451_6_IFT81-INSR_IFT81_chr12_110574665_ENST00000552912_INSR_chr19_7184648_ENST00000341500_length(amino acids)=1413AA_BP=261 MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQTAKRMLSLLGILKYKPSGNATDMSTFRQGL VIGSKPVIYPVLHWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQLKISGFSTAEIRKDISAMEE EKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRLQRVQNQLKSMRQAAADAKPEICPTICKSHG CTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYHFQDWRCVNFSFCQDLHHKCKNSRRQGCHQYVIHNNKCIPECPS GYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDSVTSAQELRGCTVINGSLIINIRGGNNLAAELEANLGLIEEISGYLKIRRSYALVSLS FFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQGKLFFHYNPKLCLSEIHKMEEVSGTKGRQERNDIALKTNGDQASCEN ELLKFSYIRTSFDKILLRWEPYWPPDFRDLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQNHPGWLMRGLKPWT QYAIFVKTLVTFSDERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYCLKG LKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRPSRKRRSLGDVGNVTVAVPTVAA FPNTSSTSVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQACNQDTPEERCSVAAYVSARTMPEAKADDIVGPVTHEIFENNVVHL MWQEPKEPNGLIVLYEVSYRRYGDEELHLCVSRKHFALERGCRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDYLDVPSNIAKIII GPLIFVFLFSVVIGSIYLFLRKRQPDGPLGPLYASSNPEYLSASDVFPCSVYVPDEWEVSREKITLLRELGQGSFGMVYEGNARDIIKGE AETRVAVKTVNESASLRERIEFLNEASVMKGFTCHHVVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRPEAENNPGRPPPTLQEMIQM AAEIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKIGDFGMTRDIYETDYYRKGGKGLLPVRWMAPESLKDGVFTTSSDMWSFGVVLWEI TSLAEQPYQGLSNEQVLKFVMDGGYLDQPDNCPERVTDLMRMCWQFNPKMRPTFLEIVNLLKDDLHPSFPEVSFFHSEENKAPESEELEM -------------------------------------------------------------- |
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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/chr12:110574665/chr19:7184648) - 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 |
| IFT81 | INSR |
| FUNCTION: Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region (PubMed:23990561). Required for ciliogenesis (PubMed:27666822, PubMed:23990561). Required for proper regulation of SHH signaling (PubMed:27666822). {ECO:0000269|PubMed:23990561, ECO:0000269|PubMed:27666822}. | FUNCTION: Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. Binding of insulin leads to phosphorylation of several intracellular substrates, including, insulin receptor substrates (IRS1, 2, 3, 4), SHC, GAB1, CBL and other signaling intermediates. Each of these phosphorylated proteins serve as docking proteins for other signaling proteins that contain Src-homology-2 domains (SH2 domain) that specifically recognize different phosphotyrosine residues, including the p85 regulatory subunit of PI3K and SHP2. Phosphorylation of IRSs proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway, which is responsible for most of the metabolic actions of insulin, and the Ras-MAPK pathway, which regulates expression of some genes and cooperates with the PI3K pathway to control cell growth and differentiation. Binding of the SH2 domains of PI3K to phosphotyrosines on IRS1 leads to the activation of PI3K and the generation of phosphatidylinositol-(3, 4, 5)-triphosphate (PIP3), a lipid second messenger, which activates several PIP3-dependent serine/threonine kinases, such as PDPK1 and subsequently AKT/PKB. The net effect of this pathway is to produce a translocation of the glucose transporter SLC2A4/GLUT4 from cytoplasmic vesicles to the cell membrane to facilitate glucose transport. Moreover, upon insulin stimulation, activated AKT/PKB is responsible for: anti-apoptotic effect of insulin by inducing phosphorylation of BAD; regulates the expression of gluconeogenic and lipogenic enzymes by controlling the activity of the winged helix or forkhead (FOX) class of transcription factors. Another pathway regulated by PI3K-AKT/PKB activation is mTORC1 signaling pathway which regulates cell growth and metabolism and integrates signals from insulin. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 thereby activating mTORC1 pathway. The Ras/RAF/MAP2K/MAPK pathway is mainly involved in mediating cell growth, survival and cellular differentiation of insulin. Phosphorylated IRS1 recruits GRB2/SOS complex, which triggers the activation of the Ras/RAF/MAP2K/MAPK pathway. In addition to binding insulin, the insulin receptor can bind insulin-like growth factors (IGFI and IGFII). Isoform Short has a higher affinity for IGFII binding. When present in a hybrid receptor with IGF1R, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1, IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both bind IGF1 and have a low affinity for insulin. In adipocytes, inhibits lipolysis (By similarity). {ECO:0000250|UniProtKB:P15208, ECO:0000269|PubMed:12138094, ECO:0000269|PubMed:16314505, ECO:0000269|PubMed:16831875, ECO:0000269|PubMed:8257688, ECO:0000269|PubMed:8276809, ECO:0000269|PubMed:8452530, ECO:0000269|PubMed:9428692}. |
| 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 | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000242591 | + | 8 | 19 | 132_258 | 260.3333333333333 | 677.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000361948 | + | 8 | 12 | 132_258 | 260.3333333333333 | 432.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000552912 | + | 8 | 19 | 132_258 | 260.3333333333333 | 677.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000242591 | + | 8 | 19 | 2_121 | 260.3333333333333 | 677.0 | Region | Note=CH (calponin-homology)-like region |
| Hgene | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000361948 | + | 8 | 12 | 2_121 | 260.3333333333333 | 432.0 | Region | Note=CH (calponin-homology)-like region |
| Hgene | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000552912 | + | 8 | 19 | 2_121 | 260.3333333333333 | 677.0 | Region | Note=CH (calponin-homology)-like region |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 1023_1298 | 217.33333333333334 | 1383.0 | Domain | Protein kinase | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 624_726 | 217.33333333333334 | 1383.0 | Domain | Fibronectin type-III 1 | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 757_842 | 217.33333333333334 | 1383.0 | Domain | Fibronectin type-III 2 | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 853_947 | 217.33333333333334 | 1383.0 | Domain | Fibronectin type-III 3 | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 1023_1298 | 217.33333333333334 | 1371.0 | Domain | Protein kinase | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 624_726 | 217.33333333333334 | 1371.0 | Domain | Fibronectin type-III 1 | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 757_842 | 217.33333333333334 | 1371.0 | Domain | Fibronectin type-III 2 | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 853_947 | 217.33333333333334 | 1371.0 | Domain | Fibronectin type-III 3 | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 1104_1110 | 217.33333333333334 | 1383.0 | Nucleotide binding | ATP | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 1163_1164 | 217.33333333333334 | 1383.0 | Nucleotide binding | ATP | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 1104_1110 | 217.33333333333334 | 1371.0 | Nucleotide binding | ATP | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 1163_1164 | 217.33333333333334 | 1371.0 | Nucleotide binding | ATP | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 1361_1364 | 217.33333333333334 | 1383.0 | Region | Note=PIK3R1-binding | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 733_741 | 217.33333333333334 | 1383.0 | Region | Note=Insulin-binding | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 1361_1364 | 217.33333333333334 | 1371.0 | Region | Note=PIK3R1-binding | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 733_741 | 217.33333333333334 | 1371.0 | Region | Note=Insulin-binding | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 763_956 | 217.33333333333334 | 1383.0 | Topological domain | Extracellular | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 980_1382 | 217.33333333333334 | 1383.0 | Topological domain | Cytoplasmic | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 763_956 | 217.33333333333334 | 1371.0 | Topological domain | Extracellular | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 980_1382 | 217.33333333333334 | 1371.0 | Topological domain | Cytoplasmic | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 957_979 | 217.33333333333334 | 1383.0 | Transmembrane | Helical | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 957_979 | 217.33333333333334 | 1371.0 | 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 | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000242591 | + | 8 | 19 | 306_389 | 260.3333333333333 | 677.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000242591 | + | 8 | 19 | 416_456 | 260.3333333333333 | 677.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000242591 | + | 8 | 19 | 490_622 | 260.3333333333333 | 677.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000361948 | + | 8 | 12 | 306_389 | 260.3333333333333 | 432.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000361948 | + | 8 | 12 | 416_456 | 260.3333333333333 | 432.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000361948 | + | 8 | 12 | 490_622 | 260.3333333333333 | 432.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000552912 | + | 8 | 19 | 306_389 | 260.3333333333333 | 677.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000552912 | + | 8 | 19 | 416_456 | 260.3333333333333 | 677.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | IFT81 | chr12:110574665 | chr19:7184648 | ENST00000552912 | + | 8 | 19 | 490_622 | 260.3333333333333 | 677.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 182_339 | 217.33333333333334 | 1383.0 | Compositional bias | Note=Cys-rich | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 28_174 | 217.33333333333334 | 1383.0 | Compositional bias | Note=Leu-rich | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 182_339 | 217.33333333333334 | 1371.0 | Compositional bias | Note=Cys-rich | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 28_174 | 217.33333333333334 | 1371.0 | Compositional bias | Note=Leu-rich | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000302850 | 1 | 22 | 28_758 | 217.33333333333334 | 1383.0 | Topological domain | Extracellular | |
| Tgene | INSR | chr12:110574665 | chr19:7184648 | ENST00000341500 | 1 | 21 | 28_758 | 217.33333333333334 | 1371.0 | Topological domain | Extracellular |
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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 |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| IFT81 | |
| INSR |
| - 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 |
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Related Drugs to IFT81-INSR |
| 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 IFT81-INSR |
| 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 |
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