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Fusion gene ID: 18681 |
FusionGeneSummary for KIAA1244_MED20 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KIAA1244_MED20 | Fusion gene ID: 18681 | Hgene | Tgene | Gene symbol | KIAA1244 | MED20 | Gene ID | 57221 | 9477 |
| Gene name | ARFGEF family member 3 | mediator complex subunit 20 | |
| Synonyms | A7322|BIG3|C6orf92|KIAA1244|PPP1R33|dJ171N11.1 | PRO0213|SRB2|TRFP | |
| Cytomap | 6q23.3-q24.1 | 6p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | brefeldin A-inhibited guanine nucleotide-exchange protein 3protein phosphatase 1, regulatory subunit 33 | mediator of RNA polymerase II transcription subunit 20Trf (TATA binding protein-related factor)-proximal homolog | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9H944 | ||
| Ensembl transtripts involved in fusion gene | ENST00000251691, | ENST00000265350, ENST00000467535, ENST00000409312, ENST00000409060, | |
| Fusion gene scores | * DoF score | 4 X 3 X 2=24 | 4 X 3 X 4=48 |
| # samples | 3 | 6 | |
| ** MAII score | log2(3/24*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/48*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: KIAA1244 [Title/Abstract] AND MED20 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| 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 | KIAA1244 | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
| 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 | SARC | TCGA-DX-A6BH-01A | KIAA1244 | chr6 | 138564131 | + | MED20 | chr6 | 41877260 | - |
| * 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 | ENST00000251691 | ENST00000265350 | KIAA1244 | chr6 | 138564131 | + | MED20 | chr6 | 41877260 | - |
| 5CDS-5UTR | ENST00000251691 | ENST00000467535 | KIAA1244 | chr6 | 138564131 | + | MED20 | chr6 | 41877260 | - |
| 5CDS-5UTR | ENST00000251691 | ENST00000409312 | KIAA1244 | chr6 | 138564131 | + | MED20 | chr6 | 41877260 | - |
| 5CDS-5UTR | ENST00000251691 | ENST00000409060 | KIAA1244 | chr6 | 138564131 | + | MED20 | chr6 | 41877260 | - |
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FusionProtFeatures for KIAA1244_MED20 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KIAA1244 | MED20 |
| Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. | Component of the Mediator complex, a coactivatorinvolved in the regulated transcription of nearly all RNApolymerase II-dependent genes. Mediator functions as a bridge toconvey information from gene-specific regulatory proteins to thebasal RNA polymerase II transcription machinery. Mediator isrecruited to promoters by direct interactions with regulatoryproteins and serves as a scaffold for the assembly of a functionalpreinitiation complex with RNA polymerase II and the generaltranscription factors. |
| 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 |
| - 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 | >KIAA1244 | chr6:138564131 | chr6:41877260 | ENST00000251691 | + | 7 | 34 | 583_796 | 195 | 2178 | Domain | Note=SEC7 |
| Hgene | >KIAA1244 | chr6:138564131 | chr6:41877260 | ENST00000251691 | + | 7 | 34 | 1492_1512 | 195 | 2178 | Transmembrane | Helical |
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FusionGeneSequence for KIAA1244_MED20 |
| 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_KIAA1244_ENST00000251691_chr6_138564131_+_MED20_ENST00000265350_chr6_41877260_-_352aa MEEILRKLQKEASGSKYKAIKESCTWALETLGGLDTIVKIPPHVLREKCLLPLQLALESKNVKLAQHALAGMQKLLSEERFVSMETDSDE KQLLNQILNAVKVTPSLNEDLQVEVMKVLLCITYTPTFDLNGSAVLKIAEVCIETYISSCHQRSINTAVRATLSQMLSDLTLQLRQRQEN TIIENPDVPQDFGNQGQTGKLMYVMHNSEYPLSCFALFENGPCLIADTNFDVLMVKLKGFFQSAKASKIETRGTRYQYCDFLVKVGTVTM |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_KIAA1244_ENST00000251691_chr6_138564131_+_MED20_ENST00000265350_chr6_41877260_-_1056nt ATGGAAGAAATCCTGAGGAAGCTGCAGAAGGAGGCGTCCGGGAGCAAGTACAAAGCCATCAAGGAGAGCTGCACCTGGGCCCTGGAAACT CTAGGTGGTCTGGATACCATTGTCAAGATCCCTCCACATGTACTGAGGGAGAAATGCCTGCTGCCTCTCCAGTTGGCTTTGGAATCCAAG AATGTGAAGCTGGCCCAACATGCTTTGGCAGGGATGCAGAAGCTTCTGTCGGAAGAGAGGTTTGTATCCATGGAAACAGATTCTGATGAG AAGCAGCTGCTCAATCAGATACTGAATGCCGTGAAAGTGACGCCTTCGCTCAACGAGGACCTGCAGGTGGAAGTGATGAAGGTTTTACTA TGCATCACCTACACGCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGTGCATTGAGACGTACATAAGCAGCTGT CACCAGCGTAGCATAAACACTGCTGTGCGGGCAACTCTCAGTCAAATGCTGAGTGACTTGACTTTACAGTTACGACAGAGGCAGGAGAAT ACGATAATTGAAAACCCAGATGTCCCACAGGATTTCGGGAATCAAGGTCAGACCGGGAAGCTGATGTATGTGATGCACAACTCAGAGTAC CCATTGAGCTGTTTCGCCCTCTTTGAGAATGGCCCTTGCCTTATTGCTGACACCAACTTTGATGTGCTTATGGTGAAGCTCAAGGGCTTT TTCCAGAGTGCTAAGGCCAGCAAGATTGAGACCCGGGGCACCAGGTACCAGTACTGTGACTTCCTGGTGAAGGTGGGCACGGTCACAATG GGGCCCAGTGCCCGGGGCATCTCTGTGGAGGTGGAGTATGGCCCCTGTGTGGTAGCTAGTGACTGCTGGAGTCTGCTGCTCGAGTTCCTA CAGAGTTTTCTAGGCAGCCACACACCAGGGGCTCCCGCAGTGTTTGGGAACAGACATGATGCGGTCTACGGCCCAGCAGATACCATGGTC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_KIAA1244_ENST00000251691_chr6_138564131_+_MED20_ENST00000265350_chr6_41877260_-_2940nt CCGCGGCATGGAGCGGGCGTGATTCATCAGCATCCGCGCCGGGGCGGCATGGGGGCGCGCGCGGCGGCCGCCTAGGCGCCCAGGGCCAGG CAGCGGCGGCTTCCCCGGCCCGGCTCGCCCGCGCTTCTCTCCCTGTGGGCGGCGGCCCGGCGCCTGGAAGGTCAAGATGGAAGAAATCCT GAGGAAGCTGCAGAAGGAGGCGTCCGGGAGCAAGTACAAAGCCATCAAGGAGAGCTGCACCTGGGCCCTGGAAACTCTAGGTGGTCTGGA TACCATTGTCAAGATCCCTCCACATGTACTGAGGGAGAAATGCCTGCTGCCTCTCCAGTTGGCTTTGGAATCCAAGAATGTGAAGCTGGC CCAACATGCTTTGGCAGGGATGCAGAAGCTTCTGTCGGAAGAGAGGTTTGTATCCATGGAAACAGATTCTGATGAGAAGCAGCTGCTCAA TCAGATACTGAATGCCGTGAAAGTGACGCCTTCGCTCAACGAGGACCTGCAGGTGGAAGTGATGAAGGTTTTACTATGCATCACCTACAC GCCAACATTTGATCTGAATGGGAGTGCCGTGCTGAAGATCGCGGAGGTGTGCATTGAGACGTACATAAGCAGCTGTCACCAGCGTAGCAT AAACACTGCTGTGCGGGCAACTCTCAGTCAAATGCTGAGTGACTTGACTTTACAGTTACGACAGAGGCAGGAGAATACGATAATTGAAAA CCCAGATGTCCCACAGGATTTCGGGAATCAAGGTCAGACCGGGAAGCTGATGTATGTGATGCACAACTCAGAGTACCCATTGAGCTGTTT CGCCCTCTTTGAGAATGGCCCTTGCCTTATTGCTGACACCAACTTTGATGTGCTTATGGTGAAGCTCAAGGGCTTTTTCCAGAGTGCTAA GGCCAGCAAGATTGAGACCCGGGGCACCAGGTACCAGTACTGTGACTTCCTGGTGAAGGTGGGCACGGTCACAATGGGGCCCAGTGCCCG GGGCATCTCTGTGGAGGTGGAGTATGGCCCCTGTGTGGTAGCTAGTGACTGCTGGAGTCTGCTGCTCGAGTTCCTACAGAGTTTTCTAGG CAGCCACACACCAGGGGCTCCCGCAGTGTTTGGGAACAGACATGATGCGGTCTACGGCCCAGCAGATACCATGGTCCAGTACATGGAACT CTTCAACAAGATCCGCAAGCAGCAGCAGGTGCCGGTGGCTGGGATTCGTTAGTGATGAGCAGCTGCCAGCTGAGCTCTGTCACCAGGGGT ACTCCACAGGAGGAGCAGGTGCTGACTTTCAGGTCCCTGGACCCCAGAAACCCAGGGTAGACATGGACTCTACTCTCCTTCTCTGGTTCT CAGCTGTGGCTTTTGTTCTGGGGCTGAGTCCCCTCCCCAACCCCCTGACTCTCACACATAGCCCCCCATCAGCTGTTTTACTCCGTGCCT TACTGGATTTGGCCTGTCCTCAAGAATGGTAATTATGAAGAGTGGAGAAGTTTGGACCTTGCCTCCTTTAGGGGAAAGGTAGGACAGGAA TGTCCCTGCCTGGTACTGGTGGGGGAAATAGTCCGTATCCCCAACTATTAAGGATTTGTCCCAGGCCAATGGTGAACATGCTGCATTTTA TGTTTGGATTGTGCTGTAATAAGAGCCTCTTCCTTCCCTCAGAGGATGTGGCTGGGCTTCTATCCTAGAGATGGAGTAGAAGGCACAACT GGTTTGATAGTTACTATTTTCTGACCTGTTTGCTGAAGTGATTTGCGAATTGACTTTCCTAGGGTGTTGCCTGAGTCCTTTGAAATCTCC TTCTGACATCTTTCCCTTCTGTTGTGAAATATGTTAAGCCACAGGCCAAACTGCTATAAGATCGAAGTTTGTTTTTTTCTCACCTAATAA TAGAGAGGTAATCAGATGGTCTAGGGCAGATTTAACTCTACAAGGTTATCAGGAACTTTGTTTCCTTCTGTCTTATTCAGCCATTCCCAG TATGTTTTCTTACCCATAAGATCAAAGCAGACTCATCAGCTCCATATCTGCATTCCACTGGGGAAAGAGAGAGAGAAAAGAGCAGATTTT AAAAAAAAGATATGACTGAGCATTGCTCAGATCACTGTGGCCACACTTTGCTGAAAGAGATGCTGGGACATAGAACCTCTTATCTGGGCA GTCATGTGCTGAGTTAAAACTCAGGGATTCTGTGACTACAAGATGAAAGACAATTTGGTTGCTGAGATGCAGTTAATGGCTTCTGTTACA TGGAGCTCAATGGACGTGCCCAGGAATGCTTTTGGCTGTTATTTTGCAGTTAATACCTCCTGTAACTAAAGCATTTGTTTATGAGTTGAC TTGAGAGAAGGGCTGATCTCAGAGCCGCTTTGAGCTAAGTTGGATTAGTCACACTAGGAAGTTAATTCCACACCTTTCGTCTAAGTCTCA GTATTGAGGCCTCTCCAGTTCTCATGCACCCTGATCTTAGGGTTAGAATACTTGACCCTGATACCTGCACCATGCTTCATGGTTCCTGAG CTCTTTCTCCTGTTTCATTTGAGCCTCCAAACTACATATTTGGTCATATTGCCTGCCTACCCCATGCCTGCTGCAGAAATATTCATCCAG GTTAACCTTGATATACACAGAGATGGTCTTGGAGAATTGTGAATGTATGTACTGTATTGTCATCAAGGATACTGTCCCTTATTTGAAGGC ATCTAAAGAGAAACTGTTTTCAGATCCAAGTGCTCAGATCTAAAGCCTCTGCAACAAGTCAGGTGGTGGTCATGTTTCCCTTCTAGTTTT GGCTGACAGGAAGCTCAGTTCAGTACCATAACTACAGAACCTGTCATCTGTATTTTTTGTTCTCACCCCGTTTTTGTTATTTTGTTTCTG |
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FusionGenePPI for KIAA1244_MED20 |
| 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 |
| KIAA1244 | PTH, PHB2, EGFR, RNF2, BMI1, SPACA1, PNKD, SRPK2, CEP152, FGFR1OP, NIN, ST6GAL1, NPY2R, TMEM206, SIGLECL1, VIPR1, LPAR4, CLEC2D | MED20 | MED10, MED9, MED29, MED19, MED28, MED26, PPARGC1A, MED18, ESR1, ESR2, CDK8, MED1, MED30, MED12, ZC3H13, TADA2A, ELAVL1, FBXW7, EPAS1, POLR1B, CD300C, CDK19, MED7, CCNC, TCL1B, GTPBP4, MED11, MED14, MED15, MED17, MED22, MED24, MED27, MED4, MED6, MED8, POLR2A, KCMF1, WASF1, PDIA6, RPS10, PPA1, MED23, ATP5F1, PDCD6, SPTAN1, ACAT2, AFG3L2, ATP6V1H, CKAP2, GNPDA1, RAB10, SPG20, SUGT1, TMED2, TPD52L2, TRAPPC5, SRSF5, CP, THOC2, TRIM25, NCBP1, CNP, ARF4, ATP6V1E1, C21orf33, FKBP1A, MYH14, SERPINH1, RRP1, FAM50A, EXOSC8, GNG12, ECH1, IGF2BP3, RHOA, SCP2, VDAC1, DNAJB1, CSNK2A2, ATPIF1, LRRC47, NPEPPS, GTF2F1, MANF, ALB, AKR1B1, RECQL, SLTM, SUMO4, CYCS, SNRPG, TRA2B, PSMD10, BAG6, ARF5, CORO1C, C3, GSTO1, NCAPG, TCEA1, RSRC2, MED21, MDH1, TPI1, PHB, PHB2, ATP5C1, PI4KA, CPSF7, MED16, FLII, QPCT, UBB, RAD23A, RIOK1, RAD23B, HUWE1, LMO2, BIRC5, GDF9, TKT |
| - 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 KIAA1244_MED20 |
| 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 KIAA1244_MED20 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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