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Fusion gene ID: 2679 |
FusionGeneSummary for ARID5A_CNNM4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARID5A_CNNM4 | Fusion gene ID: 2679 | Hgene | Tgene | Gene symbol | ARID5A | CNNM4 | Gene ID | 10865 | 26504 |
| Gene name | AT-rich interaction domain 5A | cyclin and CBS domain divalent metal cation transport mediator 4 | |
| Synonyms | MRF-1|MRF1|RP11-363D14 | ACDP4 | |
| Cytomap | 2q11.2 | 2q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AT-rich interactive domain-containing protein 5AARID domain-containing protein 5AAT rich interactive domain 5A (MRF1-like)RFVG5814modulator recognition factor 1modulator recognition factor I | metal transporter CNNM4ancient conserved domain protein 4ancient conserved domain-containing protein 4cyclin-M4 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q03989 | Q6P4Q7 | |
| Ensembl transtripts involved in fusion gene | ENST00000357485, ENST00000454558, | ENST00000377075, ENST00000540067, ENST00000496186, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: ARID5A [Title/Abstract] AND CNNM4 [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 | ARID5A | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15941852 |
| Hgene | ARID5A | GO:0071391 | cellular response to estrogen stimulus | 15941852 |
| Tgene | CNNM4 | GO:0055065 | metal ion homeostasis | 15840172 |
| 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 | LD | COAD | TCGA-AM-5820-01A | ARID5A | chr2 | 97202567 | + | CNNM4 | chr2 | 97462749 | + |
| * 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 | ENST00000357485 | ENST00000377075 | ARID5A | chr2 | 97202567 | + | CNNM4 | chr2 | 97462749 | + |
| 5CDS-5UTR | ENST00000357485 | ENST00000540067 | ARID5A | chr2 | 97202567 | + | CNNM4 | chr2 | 97462749 | + |
| 5CDS-3UTR | ENST00000357485 | ENST00000496186 | ARID5A | chr2 | 97202567 | + | CNNM4 | chr2 | 97462749 | + |
| intron-3CDS | ENST00000454558 | ENST00000377075 | ARID5A | chr2 | 97202567 | + | CNNM4 | chr2 | 97462749 | + |
| intron-5UTR | ENST00000454558 | ENST00000540067 | ARID5A | chr2 | 97202567 | + | CNNM4 | chr2 | 97462749 | + |
| intron-3UTR | ENST00000454558 | ENST00000496186 | ARID5A | chr2 | 97202567 | + | CNNM4 | chr2 | 97462749 | + |
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FusionProtFeatures for ARID5A_CNNM4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARID5A | CNNM4 |
| Binds to AT-rich stretches in the modulator regionupstream of the human cytomegalovirus major intermediate earlygene enhancer. May act as repressor and down-regulate enhancer-dependent gene expressison (PubMed:8649988). May positivelyregulate chondrocyte-specific transcription such as of COL2A1 incollaboration with SOX9 and positively regulate histone H3acetylation at chondrocyte-specific genes. May stimulate early-stage chondrocyte differentiation and inhibit later stagedifferention (By similarity). Can repress ESR1-mediatedtranscriptional activation; proposed to act as corepressor forselective nuclear hormone receptors (PubMed:15941852). As RNA-binding protein involved in the regulation of inflammatoryresponse by stabilizing selective inflammation-related mRNAs, suchas IL6, STAT3 and TBX21. Binds to stem loop structures located inthe 3'UTRs of IL6, STAT3 and TBX21 mRNAs; at least for STAT3prevents binding of ZC3H12A to the mRNA stem loop structure thusinhibiting its degradation activity. Contributes to elevated IL6levels possibly implicated in autoimmunity processes. IL6-dependent stabilization of STAT3 mRNA may promote differentiationof naive CD4+ T-cells into T-helper Th17 cells. In CD4+ T-cellsmay also inhibit RORC-induced Th17 cell differentiationindependently of IL6 signaling. Stabilization of TBX21 mRNAcontributes to elevated interferon-gamma secretion in Th1 cellspossibly implicated in the establishment of septic shock (Bysimilarity). {ECO:0000250|UniProtKB:Q3U108,ECO:0000269|PubMed:15941852, ECO:0000269|PubMed:8649988}. |
| 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 | >ARID5A | chr2:97202567 | chr2:97462749 | ENST00000357485 | + | 1 | 7 | 55_147 | 1 | 595 | Domain | ARID |
| Tgene | CNNM4 | chr2:97202567 | chr2:97462749 | ENST00000377075 | + | 0 | 7 | 178_358 | 467 | 776 | Domain | CNNM transmembrane |
| Tgene | CNNM4 | chr2:97202567 | chr2:97462749 | ENST00000377075 | + | 0 | 7 | 377_438 | 467 | 776 | Domain | CBS 1 |
| Tgene | CNNM4 | chr2:97202567 | chr2:97462749 | ENST00000377075 | + | 0 | 7 | 445_511 | 467 | 776 | Domain | CBS 2 |
| Tgene | CNNM4 | chr2:97202567 | chr2:97462749 | ENST00000377075 | + | 0 | 7 | 241_261 | 467 | 776 | Intramembrane | Helical |
| Tgene | CNNM4 | chr2:97202567 | chr2:97462749 | ENST00000377075 | + | 0 | 7 | 1_178 | 467 | 776 | Topological domain | Extracellular |
| Tgene | CNNM4 | chr2:97202567 | chr2:97462749 | ENST00000377075 | + | 0 | 7 | 200_240 | 467 | 776 | Topological domain | Cytoplasmic |
| Tgene | CNNM4 | chr2:97202567 | chr2:97462749 | ENST00000377075 | + | 0 | 7 | 262_264 | 467 | 776 | Topological domain | Cytoplasmic |
| Tgene | CNNM4 | chr2:97202567 | chr2:97462749 | ENST00000377075 | + | 0 | 7 | 286_293 | 467 | 776 | Topological domain | Extracellular |
| Tgene | CNNM4 | chr2:97202567 | chr2:97462749 | ENST00000377075 | + | 0 | 7 | 317_775 | 467 | 776 | Topological domain | Cytoplasmic |
| Tgene | CNNM4 | chr2:97202567 | chr2:97462749 | ENST00000377075 | + | 0 | 7 | 179_199 | 467 | 776 | Transmembrane | Helical |
| Tgene | CNNM4 | chr2:97202567 | chr2:97462749 | ENST00000377075 | + | 0 | 7 | 265_285 | 467 | 776 | Transmembrane | Helical |
| Tgene | CNNM4 | chr2:97202567 | chr2:97462749 | ENST00000377075 | + | 0 | 7 | 294_316 | 467 | 776 | Transmembrane | Helical |
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FusionGeneSequence for ARID5A_CNNM4 |
| 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_ARID5A_ENST00000357485_chr2_97202567_+_CNNM4_ENST00000377075_chr2_97462749_+_310aa MGKSHLAIVQKVNNEGEGDPFYEVLGLVTLEDVIEEIIKSEILDESDMYTDNRSRKRVSEKNKRDFSAFKDADNELKVKISPQLLLAAHR FLATEVSQFSPSLISEKILLRLLKYPDVIQELKFDEHNKYYARHYLYTRNKPADYFILILQGKVEVEAGKENMKFETGAFSYYGTMALTS VPSDRSPAHPTPLSRSASLSYPDRTDVSTAATLAGSSNQFGSSVLGQYISDFSVRALVDLQYIKITRQQYQNGLLASRMENSPQFPIDGC |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ARID5A_ENST00000357485_chr2_97202567_+_CNNM4_ENST00000377075_chr2_97462749_+_930nt ATGGGGAAGTCCCACCTGGCCATCGTGCAGAAGGTAAACAACGAGGGTGAGGGTGACCCCTTCTACGAGGTCCTGGGCCTGGTCACCCTG GAGGACGTGATCGAGGAGATCATCAAGTCGGAGATCCTGGACGAGTCCGACATGTACACTGACAACCGAAGCCGGAAGCGGGTGTCTGAG AAGAACAAGCGTGACTTCTCTGCCTTCAAGGATGCGGACAATGAGCTCAAAGTGAAAATCTCCCCGCAGCTCCTCCTGGCCGCTCATCGC TTCCTAGCCACAGAGGTCTCTCAGTTTAGCCCCTCCCTGATATCAGAGAAGATCCTGCTGCGGCTACTCAAGTACCCAGATGTCATTCAG GAACTCAAGTTTGACGAGCACAATAAGTACTACGCCCGCCATTACCTGTACACCCGAAATAAGCCGGCCGACTACTTCATCCTCATCCTG CAGGGGAAGGTGGAGGTGGAGGCAGGGAAGGAGAACATGAAGTTTGAGACGGGCGCCTTCTCCTACTATGGGACTATGGCCCTGACCTCG GTCCCCTCCGACCGTTCCCCAGCACACCCCACCCCACTCAGCCGCTCAGCCTCCCTCAGTTACCCAGACCGCACAGACGTCTCAACTGCA GCAACCTTGGCAGGCAGCAGCAACCAGTTTGGCAGCTCTGTCCTGGGCCAGTACATCTCTGACTTCAGCGTCCGGGCACTCGTGGACTTG CAGTACATCAAGATCACTCGGCAGCAGTACCAGAACGGGCTGCTGGCTTCTCGCATGGAGAACAGCCCTCAGTTTCCCATAGACGGGTGC ACCACCCACATGGAGAACTTGGCCGAGAAGTCTGAGCTGCCTGTGGTGGACGAGACCACAACTCTTCTCAACGAGCGTAACTCCTTGCTG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ARID5A_ENST00000357485_chr2_97202567_+_CNNM4_ENST00000377075_chr2_97462749_+_3382nt AGTATCTCAGAGAGCGCGGGGTCCGGACAGCCGCGCGCTGAGGGTCTCGGGGCGGGCGCCGCGGGACCTCTCCGGGCCATGGGGAAGTCC CACCTGGCCATCGTGCAGAAGGTAAACAACGAGGGTGAGGGTGACCCCTTCTACGAGGTCCTGGGCCTGGTCACCCTGGAGGACGTGATC GAGGAGATCATCAAGTCGGAGATCCTGGACGAGTCCGACATGTACACTGACAACCGAAGCCGGAAGCGGGTGTCTGAGAAGAACAAGCGT GACTTCTCTGCCTTCAAGGATGCGGACAATGAGCTCAAAGTGAAAATCTCCCCGCAGCTCCTCCTGGCCGCTCATCGCTTCCTAGCCACA GAGGTCTCTCAGTTTAGCCCCTCCCTGATATCAGAGAAGATCCTGCTGCGGCTACTCAAGTACCCAGATGTCATTCAGGAACTCAAGTTT GACGAGCACAATAAGTACTACGCCCGCCATTACCTGTACACCCGAAATAAGCCGGCCGACTACTTCATCCTCATCCTGCAGGGGAAGGTG GAGGTGGAGGCAGGGAAGGAGAACATGAAGTTTGAGACGGGCGCCTTCTCCTACTATGGGACTATGGCCCTGACCTCGGTCCCCTCCGAC CGTTCCCCAGCACACCCCACCCCACTCAGCCGCTCAGCCTCCCTCAGTTACCCAGACCGCACAGACGTCTCAACTGCAGCAACCTTGGCA GGCAGCAGCAACCAGTTTGGCAGCTCTGTCCTGGGCCAGTACATCTCTGACTTCAGCGTCCGGGCACTCGTGGACTTGCAGTACATCAAG ATCACTCGGCAGCAGTACCAGAACGGGCTGCTGGCTTCTCGCATGGAGAACAGCCCTCAGTTTCCCATAGACGGGTGCACCACCCACATG GAGAACTTGGCCGAGAAGTCTGAGCTGCCTGTGGTGGACGAGACCACAACTCTTCTCAACGAGCGTAACTCCTTGCTGCACAAAGCCTCC CACGAGAATGCCATCTGACAGGAGGGCCCGGGGCCCCCTGCCCACCCTGCGGGGGCCTCCCCAGTGGGCCCACATGAAGAGAGGGAACCT GTTAGTCCAGAAAGGATACGGATAGATAGCCTGTCTGACTGAACAGCCAGATGGCCCCCAGCCTATGGGGGATCTGGCCTCTGCCAGGGA CCTCTGAGTAGCTCTGAGGTGGCACTGTCCAGCCCTGGATAGGGGGGGCAGTGGGCCAGCTACCGTAAGCAAAGGCTGTTTTTTACTGAG AGAATTTCTAAAGTAGGCTCATCACTTTTTTTTAAATATCATTTTGGGAAGGGAAGACAGGGTTAAGGAACTTTATTTAAAAAAAAAATA TTTTTTTCCTAAAAACTATAAAAGAGGAAGGGTTTCTTGTCCCGGGAAGCAACGGACATAATCTGTTCCCAGCCATGGCCTTCCAGCTTG TGTCCCTGATTCAGGGAGCTCTCCCTTCCTCCTCCTCCTCCTCCTCCGGAGGTGGGATCCCAGAGCCTGCCAGTGGAGGCTTATCTGTTG GGAGGAAGACAGCTCTTCACAGAAGCAAAGAACAAAATGGCATGGAGATCAGCTGCCTGAGCACCTGCGCTGTAGCTTATCTGACAACGC TGAGGCCACGAGCTCCTGGGTAGCTGTGATCAGGGACATGATAATCTGAGCTATGCAGAGGAGCACATCTGTTGTCAACTGCTGTACCCA GAAATCTAGAACTCTGCCGACAGCCTCTCCTGGTGAGTCGGGACTCAGCTGAGGACACATCCCCACCCTGCCTCCCATCTGGCCCTTTGG ACAACTGGCCCTTTGTGACAGGGCTGACTCAAGTGTTAGGCAGGGTCTCAGGCCTTTGATTGCTCACCCCTGCTCCCCAGGCCCTGCCCT CACTTTTACCAAAGGTTCTCCCTCGGCGGGAGGGCATCTGTGTTGGAGGTGATTTGTCTGGGTTCTTCCTTTTGGTTCCAGAAGGAACTG TCAGTCATCAGCATCTGCGTTGTTAGCAGTCAGTACCACCCCCGCCCCACAATGACAGTCAAGGCTGACTTGTTGACTGAAGCCTTTTTC CCAGACCCCTTATTTCGAATCCCCAAGCTTCAGTCCCTCTTGGGGGTGGAGACAAGAGGACATGTGGGAAGCCACGGAAGCAGGTTCTTT ATGTCCTCTCCTCTGTGGCTGGCAAGGCTCACCTGGCCTTATCCACCCACTTATGGAACCTCAGGAGAGGAGGGCTCCTCCTAAAGGCAT GCAGCTTGCAGCCCCTCTTTCTCACACGTGTGATCCTAGCGTGAGAGGTCATCCTGCCCTTGCTGAAGTTAGTAGTACTGTACTAAGAGC TCTGCCCTCATGTGAATTCCTGCCCTGGCGCCTCTTCCCTGGGGCTGAATCAGGCCCTGCTGCAAAACTCCAGGCTTCCCAGGGTTGGGG AGGCTGTGGGACCAAGGTCCATGTTGGTCCTTCCACTGGGTGCAGCAGGAGCTGGGTCCCGAGAGCCTGGCAGGTGAAACTCTGCAGGCC TTCCGCCTGATTATTATTTATTCACTCCTTTCCTCACCCCAAGTGCCCTGCTCTCCAGGTGCCTAGAGTATCCTAACTCTTAGGACCAGG GATTGTCTTGCACCAAGTATGCCTACCCCTGGCCAGTCTGAGGTCTCCTAGCCATAGAACTGACTCCTGGAAGCCTGGAGAGAAGGTGGT GACACCCATGGGTTCTCAACTGTAAGGAAAAAAGACACCAGACTTTTGTTCCCTAGTGGGGGAAAGCCCTTAGTCTTGTACAGGAGCAGC TTGCTCCCAAGTCCTTTTGGAAGCTGGCAGAGCTATATTCCTGACAGCCCTGACTGCCAGGTAGAGCAAAAGACATTGGTGGGGGTATGT GAAGCAAAAGGGGCAGGTGCACACACCTCCACAGTGACCTCTGTGCACACGGTTACCACCAACTGGCTGGCCCTCCTCCTCTTCCCTGGC CCATTGATCATCCCTTCTCACAGAGGGTCATCATTATTTCCAAATATTGTTTGTCTGATGACTTCCTCTTCCCAGTGCAATTTTTCCCTT CCTATTTCAACCTCTGGTTCCTGGGATGAGCCATACCCTGGAACTGGCCCACCCACTGTGTCTTCCACGTAAGGGAGACCTTTGCAAAGG GCATCCAAATGGGTAGGCAGGTGACAGCCGCCGTATTTATTTTGCATAATATTTTAATTTGTATATTTTTGTGATTTATTTTGGCGTTAT GAGTTTGACTCTCGGGGAGTTTTGTTGTTATGACTCTTGTGTCTTTTGTCACAAAACAATGATATTTGCTAAACGATATATGGAATTTAT |
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FusionGenePPI for ARID5A_CNNM4 |
| 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 |
| ARID5A | ESR1, THRA, RXRA, AR, ESR2, RARA, ATXN1, CKS1B, DAB1, GOLGA2, MDFI, SOX5, PNMA1, DAZAP2, RBPMS, RHOXF2, KRT40, KRTAP12-2, KRTAP12-4, SH2D2A | CNNM4 | PTP4A2, CUL3, LRRC39, PTCH1, PTP4A1, ARL15, MBLAC2, PTPRO, IQCB1, TRIM25 |
| - 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 |
| Hgene | ARID5A | chr2:97202567 | chr2:97462749 | ENST00000357485 | + | 1 | 7 | 1_300 | 1 | 595 | SOX9 |
| - 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 ARID5A_CNNM4 |
| 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 ARID5A_CNNM4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CNNM4 | C3495589 | Jalili syndrome | 2 | UNIPROT |
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