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Fusion gene ID: 14712 |
FusionGeneSummary for GLI3_HIBADH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GLI3_HIBADH | Fusion gene ID: 14712 | Hgene | Tgene | Gene symbol | GLI3 | HIBADH | Gene ID | 2737 | 11112 |
| Gene name | GLI family zinc finger 3 | 3-hydroxyisobutyrate dehydrogenase | |
| Synonyms | ACLS|GCPS|GLI3-190|GLI3FL|PAP-A|PAPA|PAPA1|PAPB|PHS|PPDIV | NS5ATP1 | |
| Cytomap | 7p14.1 | 7p15.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcriptional activator GLI3GLI-Kruppel family member GLI3glioma-associated oncogene family zinc finger 3oncogene GLI3zinc finger protein GLI3 | 3-hydroxyisobutyrate dehydrogenase, mitochondrial3'-hydroxyisobutyrate dehydrogenase | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P10071 | P31937 | |
| Ensembl transtripts involved in fusion gene | ENST00000395925, ENST00000479210, ENST00000437480, | ENST00000265395, | |
| Fusion gene scores | * DoF score | 7 X 6 X 7=294 | 7 X 5 X 5=175 |
| # samples | 8 | 7 | |
| ** MAII score | log2(8/294*10)=-1.877744249949 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/175*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GLI3 [Title/Abstract] AND HIBADH [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. | ||
| * 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 | GLI3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10693759|12435627|19084012 |
| Hgene | GLI3 | GO:0045892 | negative regulation of transcription, DNA-templated | 12435627|16254602|19084012 |
| Hgene | GLI3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17000779 |
| Hgene | GLI3 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 17331723 |
| Tgene | HIBADH | GO:0006574 | valine catabolic process | 16466957 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | LUAD | TCGA-50-6591-01A | GLI3 | chr7 | 42187825 | - | HIBADH | chr7 | 27672064 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| In-frame | ENST00000395925 | ENST00000265395 | GLI3 | chr7 | 42187825 | - | HIBADH | chr7 | 27672064 | - |
| 5UTR-3CDS | ENST00000479210 | ENST00000265395 | GLI3 | chr7 | 42187825 | - | HIBADH | chr7 | 27672064 | - |
| intron-3CDS | ENST00000437480 | ENST00000265395 | GLI3 | chr7 | 42187825 | - | HIBADH | chr7 | 27672064 | - |
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FusionProtFeatures for GLI3_HIBADH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GLI3 | HIBADH |
| Has a dual function as a transcriptional activator and arepressor of the sonic hedgehog (Shh) pathway, and plays a role inlimb development. The full-length GLI3 form (GLI3FL) afterphosphorylation and nuclear translocation, acts as an activator(GLI3A) while GLI3R, its C-terminally truncated form, acts as arepressor. A proper balance between the GLI3 activator and therepressor GLI3R, rather than the repressor gradient itself or theactivator/repressor ratio gradient, specifies limb digit numberand identity. In concert with TRPS1, plays a role in regulatingthe size of the zone of distal chondrocytes, in restricting thezone of PTHLH expression in distal cells and in activatingchondrocyte proliferation. Binds to the minimal GLI-consensussequence 5'-GGGTGGTC-3'. {ECO:0000269|PubMed:10693759,ECO:0000269|PubMed:11238441, ECO:0000269|PubMed:17764085}. |
| 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. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Tgene | >HIBADH | chr7:42187825 | chr7:27672064 | ENST00000265395 | - | 1 | 8 | 103_104 | 84 | 337 | Nucleotide binding | NAD |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | >GLI3 | chr7:42187825 | chr7:27672064 | ENST00000395925 | - | 3 | 15 | 1492_1512 | 122 | 1581 | Compositional bias | Note=Asp/Glu-rich (acidic) |
| Hgene | >GLI3 | chr7:42187825 | chr7:27672064 | ENST00000395925 | - | 3 | 15 | 480_505 | 122 | 1581 | Zinc finger | C2H2-type 1 |
| Hgene | >GLI3 | chr7:42187825 | chr7:27672064 | ENST00000395925 | - | 3 | 15 | 513_540 | 122 | 1581 | Zinc finger | C2H2-type 2 |
| Hgene | >GLI3 | chr7:42187825 | chr7:27672064 | ENST00000395925 | - | 3 | 15 | 546_570 | 122 | 1581 | Zinc finger | C2H2-type 3 |
| Hgene | >GLI3 | chr7:42187825 | chr7:27672064 | ENST00000395925 | - | 3 | 15 | 576_601 | 122 | 1581 | Zinc finger | C2H2-type 4 |
| Hgene | >GLI3 | chr7:42187825 | chr7:27672064 | ENST00000395925 | - | 3 | 15 | 607_632 | 122 | 1581 | Zinc finger | C2H2-type 5 |
| Tgene | HIBADH | chr7:42187825 | chr7:27672064 | ENST00000265395 | - | 1 | 8 | 40_68 | 84 | 337 | Nucleotide binding | NAD |
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FusionGeneSequence for GLI3_HIBADH |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_GLI3_ENST00000395925_chr7_42187825_-_HIBADH_ENST00000265395_chr7_27672064_-_375aa MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDESPGQTYHRERRNAITMQPQNVQGLSKVSEEPSTSSDERASLIKKEI HGSLPHVAEPSVPYRGTVFAMDPRNGYMEPHYRSIFPSRCCXKSXQNYYNAAHQYQCNRSLFRSKWDSKKSEEGLIINRFQHYXSCSFKR IGQRSXENGSSFHGCPCFWWCRSCTIWEPHVYGGRSXRXICCCPRVAGVHGLQRGVLWSCWDWAGGKDLQQHAVSYXYDWNCXSYESWNQ VRAXPKTTGXNPKYELRTVLVKXHLXSCTWSDGWRSLGXXLSGWIWNNTHGXGSGIGTRLCYQHKEPNPSWQSGPSDLQDDVCKGLLKER |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_GLI3_ENST00000395925_chr7_42187825_-_HIBADH_ENST00000265395_chr7_27672064_-_1126nt ATGGAGGCCCAGTCCCACAGCTCCACGACCACTGAAAAGAAAAAAGTTGAGAATTCCATAGTGAAGTGCTCCACTCGAACAGATGTGAGC GAGAAAGCCGTTGCCTCCAGCACCACTTCTAATGAGGATGAAAGTCCTGGACAGACTTATCACAGAGAGAGAAGAAACGCAATCACTATG CAGCCACAGAATGTCCAGGGGCTCAGCAAAGTCAGTGAGGAACCTTCAACATCGAGTGACGAGAGGGCCTCATTGATCAAGAAAGAGATC CATGGGTCCCTGCCACACGTGGCGGAGCCCTCTGTGCCGTACCGCGGGACGGTGTTTGCCATGGACCCCAGGAATGGTTACATGGAGCCC CACTACCGTAGTATCTTCCCCAGCAGATGTTGCTGAAAAAGCTGACAGAATTATTACAATGCTGCCCACCAGTATCAATGCAATAGAAGC TTATTCCGGAGCAAATGGGATTCTAAAAAAAGTGAAGAAGGGCTCATTATTAATAGATTCCAGCACTATTGATCCTGCAGTTTCAAAAGA ATTGGCCAAAGAAGTTGAGAAAATGGGAGCAGTTTTCATGGATGCCCCTGTTTCTGGTGGTGTAGGAGCTGCACGATCTGGGAACCTCAC GTTTATGGTGGGAGGAGTTGAAGATGAATTTGCTGCTGCCCAAGAGTTGCTGGGGTGCATGGGCTCCAACGTGGTGTACTGTGGAGCTGT TGGGACTGGGCAGGCGGCAAAGATCTGCAACAACATGCTGTTAGCTATTAGTATGATTGGAACTGCTGAAGCTATGAATCTTGGAATCAG GTTAGGGCTTGACCCAAAACTACTGGCTAAAATCCTAAATATGAGCTCAGGACGGTGTTGGTCAAGTGACACTTATAATCCTGTACCTGG AGTGATGGATGGCGTTCCCTCGGCTAATAACTATCAGGGTGGATTTGGAACAACACTCATGGCTAAGGATCTGGGATTGGCACAAGACTC TGCTACCAGCACAAAGAGCCCAATCCTTCTTGGCAGTCTGGCCCATCAGATCTACAGGATGATGTGTGCAAAGGGCTACTCAAAGAAAGA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_GLI3_ENST00000395925_chr7_42187825_-_HIBADH_ENST00000265395_chr7_27672064_-_1983nt GTCTATGGGAAGTTCGGGGACTTGACAGCCGCTGCCGCCGCAGGGCATTTTTGGTCGAAGAGAGCTGAAGTAATGAGAAGACATCATGGA GGCCCAGTCCCACAGCTCCACGACCACTGAAAAGAAAAAAGTTGAGAATTCCATAGTGAAGTGCTCCACTCGAACAGATGTGAGCGAGAA AGCCGTTGCCTCCAGCACCACTTCTAATGAGGATGAAAGTCCTGGACAGACTTATCACAGAGAGAGAAGAAACGCAATCACTATGCAGCC ACAGAATGTCCAGGGGCTCAGCAAAGTCAGTGAGGAACCTTCAACATCGAGTGACGAGAGGGCCTCATTGATCAAGAAAGAGATCCATGG GTCCCTGCCACACGTGGCGGAGCCCTCTGTGCCGTACCGCGGGACGGTGTTTGCCATGGACCCCAGGAATGGTTACATGGAGCCCCACTA CCGTAGTATCTTCCCCAGCAGATGTTGCTGAAAAAGCTGACAGAATTATTACAATGCTGCCCACCAGTATCAATGCAATAGAAGCTTATT CCGGAGCAAATGGGATTCTAAAAAAAGTGAAGAAGGGCTCATTATTAATAGATTCCAGCACTATTGATCCTGCAGTTTCAAAAGAATTGG CCAAAGAAGTTGAGAAAATGGGAGCAGTTTTCATGGATGCCCCTGTTTCTGGTGGTGTAGGAGCTGCACGATCTGGGAACCTCACGTTTA TGGTGGGAGGAGTTGAAGATGAATTTGCTGCTGCCCAAGAGTTGCTGGGGTGCATGGGCTCCAACGTGGTGTACTGTGGAGCTGTTGGGA CTGGGCAGGCGGCAAAGATCTGCAACAACATGCTGTTAGCTATTAGTATGATTGGAACTGCTGAAGCTATGAATCTTGGAATCAGGTTAG GGCTTGACCCAAAACTACTGGCTAAAATCCTAAATATGAGCTCAGGACGGTGTTGGTCAAGTGACACTTATAATCCTGTACCTGGAGTGA TGGATGGCGTTCCCTCGGCTAATAACTATCAGGGTGGATTTGGAACAACACTCATGGCTAAGGATCTGGGATTGGCACAAGACTCTGCTA CCAGCACAAAGAGCCCAATCCTTCTTGGCAGTCTGGCCCATCAGATCTACAGGATGATGTGTGCAAAGGGCTACTCAAAGAAAGACTTCT CATCCGTGTTCCAGTTCCTACGAGAGGAGGAGACCTTCTGAGTGTGCCCTTTGGCCACGGACACTGTTGGGAACCAAACTCTGTCTTGGA GCCTCCTTTTAGCTCACTCCACAAGTAAATGGATTTAATCAAAGGTCACCTATCTGCTTTTGATTGTCTAGGTCACAGTAATCCCTAGGA TTTTTCACCGCTTATTCTTTTTGTCTTTTTAACAAACATATTATCCGAATTTTTTTTCTGCAAGCCACTGATAGTCTCTGCTAACTAGCT TAATTGACCTTTTTACAAAGTTTGATCCCCAAGCATCCTCAACTAAATCATTGAATACTTCAATCAGGATATTATCTGCTTTACTTTACA AATAAAACCAAATCTTTTGTCAACAGGATGAAACCCATCTTAAAGGAAAGAAAAGGAATTGGTGTGAAGAGAGAAGTTAGAGAAGGGAAA TGCAGTGAATTACTATCTGTGTCCATCAGGAAGTTTGTCCTGTTAACCAAATGGTTACTGCACTACCAGGGTTACTGGTTTATTTTCCAG GGAGCTGATAAAGCAGGAGAACTGTTGCTGCATGTTTTCTATTTGGACTCCGTCACAATATGGTAGGATATCCCTCACCAACTCCCGACA CTCAGCAGACTTGTTTTTATATTTTTTTCTTTCTTGTTCATTCTTACTACGTATTTTTTGACTTAAGAATGACATCTTTAGATGCATTTC AGAGCCAATGATGATATTTGCTTTAGATAATTATTATATTATTATAAATATAGCCATATTATTTTGAATTCAAATAAATTTCTATACTGG |
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FusionGenePPI for GLI3_HIBADH |
| 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 (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| GLI3 | CREBBP, SUFU, ZIC1, ZIC2, ZIC3, STK36, SAP18, MED12, BTRC, SKI, HDAC1, PRKCA, CSNK1A1, GSK3A, SOX2, FBXW11, KRAS, SMAD1, USP7, SPOP, RHOU, CELA1, THSD4, RCCD1, CEP44, KLHL7 | HIBADH | HIBADH, TRIM63, ELAVL1, BRCA1, ALDH1B1, ALDH6A1, MDH1, PDXK, SOD1, ZNF692 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for GLI3_HIBADH |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for GLI3_HIBADH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GLI3 | C0265306 | Greig cephalopolysyndactyly syndrome | 8 | CTD_human;ORPHANET;UNIPROT |
| Hgene | GLI3 | C0265220 | Pallister-Hall syndrome | 2 | CTD_human;ORPHANET |
| Hgene | GLI3 | C0027794 | Neural Tube Defects | 1 | CTD_human |
| Hgene | GLI3 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | GLI3 | C0152427 | Polydactyly | 1 | CTD_human |
| Hgene | GLI3 | C0162835 | Hypopigmentation disorder | 1 | CTD_human |
| Hgene | GLI3 | C3887487 | Postaxial polydactyly type A | 1 | UNIPROT |
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