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Fusion gene ID: 31021 |
FusionGeneSummary for RFC1_SMIM14 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RFC1_SMIM14 | Fusion gene ID: 31021 | Hgene | Tgene | Gene symbol | RFC1 | SMIM14 | Gene ID | 6573 | 201895 |
| Gene name | solute carrier family 19 member 1 | small integral membrane protein 14 | |
| Synonyms | CHMD|FOLT|IFC-1|IFC1|REFC|RFC|RFC1 | C4orf34 | |
| Cytomap | 21q22.3 | 4p14 | |
| Type of gene | protein-coding | protein-coding | |
| Description | folate transporter 1intestinal folate carrier 1placental folate transporterreduced folate carrier 1reduced folate carrier proteinsolute carrier family 19 (folate transporter), member 1 | small integral membrane protein 14 | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | P35251 | Q96QK8 | |
| Ensembl transtripts involved in fusion gene | ENST00000349703, ENST00000381897, ENST00000418436, | ENST00000295958, ENST00000511809, ENST00000510628, | |
| Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 4 X 2 X 4=32 |
| # samples | 7 | 4 | |
| ** MAII score | log2(7/100*10)=-0.514573172829758 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RFC1 [Title/Abstract] AND SMIM14 [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 | RFC1 | GO:0098838 | folate transmembrane transport | 14609557 |
| 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 | UVM | TCGA-V4-A9EX-01A | RFC1 | chr4 | 39367859 | - | SMIM14 | chr4 | 39574083 | - |
| * 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 | ENST00000349703 | ENST00000295958 | RFC1 | chr4 | 39367859 | - | SMIM14 | chr4 | 39574083 | - |
| In-frame | ENST00000349703 | ENST00000511809 | RFC1 | chr4 | 39367859 | - | SMIM14 | chr4 | 39574083 | - |
| 5CDS-5UTR | ENST00000349703 | ENST00000510628 | RFC1 | chr4 | 39367859 | - | SMIM14 | chr4 | 39574083 | - |
| In-frame | ENST00000381897 | ENST00000295958 | RFC1 | chr4 | 39367859 | - | SMIM14 | chr4 | 39574083 | - |
| In-frame | ENST00000381897 | ENST00000511809 | RFC1 | chr4 | 39367859 | - | SMIM14 | chr4 | 39574083 | - |
| 5CDS-5UTR | ENST00000381897 | ENST00000510628 | RFC1 | chr4 | 39367859 | - | SMIM14 | chr4 | 39574083 | - |
| 5UTR-3CDS | ENST00000418436 | ENST00000295958 | RFC1 | chr4 | 39367859 | - | SMIM14 | chr4 | 39574083 | - |
| 5UTR-3CDS | ENST00000418436 | ENST00000511809 | RFC1 | chr4 | 39367859 | - | SMIM14 | chr4 | 39574083 | - |
| 5UTR-5UTR | ENST00000418436 | ENST00000510628 | RFC1 | chr4 | 39367859 | - | SMIM14 | chr4 | 39574083 | - |
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FusionProtFeatures for RFC1_SMIM14 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RFC1 | SMIM14 |
| The elongation of primed DNA templates by DNA polymerasedelta and epsilon requires the action of the accessory proteinsPCNA and activator 1. This subunit binds to the primer-templatejunction. Binds the PO-B transcription element as well as other GArich DNA sequences. Could play a role in DNA transcriptionregulation as well as DNA replication and/or repair. Can bindsingle- or double-stranded DNA. {ECO:0000269|PubMed:8999859}. Interacts with C-terminus of PCNA. 5' phosphate residueis required for binding of the N-terminal DNA-binding domain toduplex DNA, suggesting a role in recognition of non-primertemplate DNA structures during replication and/or repair.{ECO:0000269|PubMed:8999859}. |
| 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 | >SMIM14 | chr4:39367859 | chr4:39574083 | ENST00000295958 | - | 1 | 5 | 71_99 | 25 | 100 | Topological domain | Cytoplasmic |
| Tgene | >SMIM14 | chr4:39367859 | chr4:39574083 | ENST00000295958 | - | 1 | 5 | 50_70 | 25 | 100 | Transmembrane | Helical |
| - 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 | >RFC1 | chr4:39367859 | chr4:39574083 | ENST00000349703 | - | 1 | 25 | 402_492 | 1 | 1148 | Domain | BRCT |
| Hgene | >RFC1 | chr4:39367859 | chr4:39574083 | ENST00000381897 | - | 1 | 25 | 402_492 | 1 | 1149 | Domain | BRCT |
| Hgene | >RFC1 | chr4:39367859 | chr4:39574083 | ENST00000349703 | - | 1 | 25 | 1120_1124 | 1 | 1148 | Motif | Nuclear localization signal |
| Hgene | >RFC1 | chr4:39367859 | chr4:39574083 | ENST00000381897 | - | 1 | 25 | 1120_1124 | 1 | 1149 | Motif | Nuclear localization signal |
| Hgene | >RFC1 | chr4:39367859 | chr4:39574083 | ENST00000349703 | - | 1 | 25 | 650_657 | 1 | 1148 | Nucleotide binding | ATP |
| Hgene | >RFC1 | chr4:39367859 | chr4:39574083 | ENST00000381897 | - | 1 | 25 | 650_657 | 1 | 1149 | Nucleotide binding | ATP |
| Tgene | SMIM14 | chr4:39367859 | chr4:39574083 | ENST00000295958 | - | 1 | 5 | 1_49 | 25 | 100 | Topological domain | Lumenal |
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FusionGeneSequence for RFC1_SMIM14 |
| 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_RFC1_ENST00000349703_chr4_39367859_-_SMIM14_ENST00000295958_chr4_39574083_-_76aa >In-frame_RFC1_ENST00000349703_chr4_39367859_-_SMIM14_ENST00000511809_chr4_39574083_-_31aa >In-frame_RFC1_ENST00000381897_chr4_39367859_-_SMIM14_ENST00000295958_chr4_39574083_-_76aa >In-frame_RFC1_ENST00000381897_chr4_39367859_-_SMIM14_ENST00000511809_chr4_39574083_-_31aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_RFC1_ENST00000349703_chr4_39367859_-_SMIM14_ENST00000295958_chr4_39574083_-_228nt ATGTTACGGCAGTCCCAGTCCTACTGCACAGACACAGAGTGTCTTCAGGAATTACCGGGACCCTCTGGTGATAATGGCATCAGTGTTACA ATGATCTTGGTAGCCTGGATGGTTATTGCATTGATCTTGTTCTTACTGAGACCTCCTAATCTAAGAGGATCCAGCCTACCTGGAAAGCCA >In-frame_RFC1_ENST00000349703_chr4_39367859_-_SMIM14_ENST00000511809_chr4_39574083_-_93nt ATGTTACGGCAGTCCCAGTCCTACTGCACAGACACAGAGTGTCTTCAGGAATGGACAAGATCCACCAGCTCCTCCTGTGGACTAACTTTG >In-frame_RFC1_ENST00000381897_chr4_39367859_-_SMIM14_ENST00000295958_chr4_39574083_-_228nt ATGTTACGGCAGTCCCAGTCCTACTGCACAGACACAGAGTGTCTTCAGGAATTACCGGGACCCTCTGGTGATAATGGCATCAGTGTTACA ATGATCTTGGTAGCCTGGATGGTTATTGCATTGATCTTGTTCTTACTGAGACCTCCTAATCTAAGAGGATCCAGCCTACCTGGAAAGCCA >In-frame_RFC1_ENST00000381897_chr4_39367859_-_SMIM14_ENST00000511809_chr4_39574083_-_93nt ATGTTACGGCAGTCCCAGTCCTACTGCACAGACACAGAGTGTCTTCAGGAATGGACAAGATCCACCAGCTCCTCCTGTGGACTAACTTTG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_RFC1_ENST00000349703_chr4_39367859_-_SMIM14_ENST00000295958_chr4_39574083_-_6134nt CTTGCACTTCGCGGGAGAAGTTGTTGGCGCGAATGGATCCTGAGCCTCGATAACAGATTCCTCAACCGGCCCACCCGCCAGCCAGCCAGC GCCTTCATCCTGGGGCTGCGATGTTACGGCAGTCCCAGTCCTACTGCACAGACACAGAGTGTCTTCAGGAATTACCGGGACCCTCTGGTG ATAATGGCATCAGTGTTACAATGATCTTGGTAGCCTGGATGGTTATTGCATTGATCTTGTTCTTACTGAGACCTCCTAATCTAAGAGGAT CCAGCCTACCTGGAAAGCCAACCAGTCCTCATAATGGACAAGATCCACCAGCTCCTCCTGTGGACTAACTTTGTGATATGGGAAGTGAAA ATAGTTAACACCTTGCACGACCAAACGAACGAAGATGACCAGAGTACTCTTAACCCCATTAGAACTGTTTTTCCTTTTGTATCTGCAATA TGGGATGGTATTGTTTTCATGAGCTTCTAGAAATTTCACTTGCAAGTTTATTTTTGCTTCCTGTGTTACTGCCATTCCTATTTACAGTAT ATTTGAGTGAATGATTATATTTTTAAAAAGTTACATGGGGCTTTTTTGGTTGTCCTAAACTTACAAACATTCCACTCATTCTGTTTGTAA CTGTGATTATAATTTTTGTGATAATTTCTGGCCTGATTGAAGGAAATTTGAGAGGTCTGCATTTATATATTTTAAATAGATTTGATAGGT TTTTAAATTGCTTTTTTTCATAAGGTATTTATAAAGTTATTTGGGGTTGTCTGGGATTGTGTGAAAGAAAATTAGAACCACGCTGTATTT ACATTTACCTTGGTAGTTTATTTGTGGATGGCAGTTTTCTGTAGTTTTGGGGACTGTGGTAGCTCTTGGATTGTTTTGCAAATTACAGCT GAAATCTGTGTCATGGATTAAACTGGCTTATGTGGCTAGAATAGGAAGAGAGAAAAAATGAAATGGTTGTTTACTAATTTTATACTCCCA TTAAAAATCTCTAATGTTAAGAAAACCTTAAATAAACATGATTGATCAATATGGCAGATGATTTACAGTCCATTATATGACATTTGTAAG CCACTCAACACTAGCCTTACAAGGTTCATGAAAGGAGGAAAACATTAATTCTTTCTGCCTTTGCTGATATAATCCACATAGTAATAATTT AAGCTATAATTTATTTTTAAAATGAGTGCCTCTTGGGAAGCTTCTTTTCTGTTCTAACAGTTCCCTGTTAAAATGAAAATCTTAGGCCAG TGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAA CATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAAATTAGCCAGGGTTGGTGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCCAAA GCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAACCAAGATCGCACCACTGCATTCCAGCCTAAGCAATAGAGCGAGACTC CCTCTCAAAAAAAAAAAAAGAAGAAAATCTTAAAGCTGTATTAGGGCCTGTTAGGTTACTGATATTTGAATGCCTATTTACTTATTTACT ACATTGAGTCTTTTGTTATCCTCTGACCTATAAAATATTTTAATAAATTACTGGTTTACTTCAAGGGAAAAGAAGGAAAATGAGAAACAT ACATCTTTTTTTCACTCCTTATCTCATTCCTGTTTGGTGATGGGATGGATTGGGGTAGGAAGGAATGTTAATATGAGAGAAATTTTAAAA TGTATAAAAAAGTAAAAGGTTGTATTGTTTTGCTCAGTTTGAAATAAAGTGAATACCAATAGCACTTAAAAATGTCTGCATGGGCTGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAAC ATGGTGAAACCTTATCTCTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGTGTGCCTATAATCCCAGCTACTGGGGAAGCTGAGGC AGGAAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTAAGCTGAGATCGTGCCACTGCACTCCAATCAGGGCGACAGAGCGAGACTCTGT CTCAAAATAAATAAATAAATAAAAATGTCTGCATGACCCATATGGTTATGAAGTTTTTTTCCTAGCAAATGATTGCAGATTATTTATGGG GGCTAGAAGATATTTTGCTATCAATGTAAGGATTTTTTTCCCCTTAGGTCAGTCTATTCACTGTTTAGATCTGGTAAATTACTTGTATGA ATTGAATAAATTCTCTGTATCATTGTACTGTTTAATAGTCTCTGATACAATTGTGATACTCATAAGGTATTTTCCCCCCTTTATTATGAT TACATTCTAGATCATAAACATTGTAAGGGCATCTTTTCATTATATAATCCAATATTGATTGTTTGAATTCCTCCTTGTACATCCTGGCTT TGTGCTCAATTTCTTGAAATAATATAACCAACTCTAAATTACTTGTGTTAATAGATCGGTAACATGACACAGGTAAGTTAAATCCTGGAT AAATGAGCCCCACAGAATAAAGGTTTTTCCTCTTGCTGTGGCCTACTGGAAGCCTTCCTAACTCTATAGCTGGTAAAGTAGAGCAGAAAG GGCCAGAATGGCTTAAGATGGAGCTAAATCCCTATAGCATTCCATTTTCTGCTCTTGCCTCTTGAACTTAGAAGGCTTGCCCATATATCC TAACAATCTGTTCTCTGAGCTGTTAGGCCAATCCCTGGCAAGAGATATTGATGTAGTCACTGAATCTATGGCTCACAAATAATTGAAAAT TGGCTTTGGGAGCTGGGCGCAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGGTGGATCACTTGAGGTCAGGAGGTT GAGACCAGCCTGGCCAAGACGGTGAAACCCCGTGCCTACAAAAAATTAGCCGGGTTTGGTGACACGGCCTGTAGTCTTAGCTACTCGGGA GGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGACAGGTTGCAGTAAGCCAAGATCACGCCACTGCACTCCAGCTTGAGTGACAGAGTGA GACCCTGTCTCAAAAAAAAAAGGCTTTAGAAGGCTTTATTGGATGAAATGGCTGAAACTTGGATACAGAATGTCTAGTATTAGACACCTA AAAATCTGGATTCTTTTTGGTTGTTGTTTTGAGATGGAGTTTTGCTCTTTCGCCCAAGCTGGAGTGAAGTGGCGCGACCTTGGCTCACTG CAACATCCACCCCCAGGTTCGAGCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGCCCACCACCACGCCCAGCTAATT TTTGTATCTTTAGTAGAGATGGGGTTTCGCCATGTAGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACTATGGCCTCC CAAAGTGCTAGGATTACAGATGTGAGCCACCGTGCCTGGCCAGAAAATCTGGATTCTTATTCCTAGTTCTTCATTTCTGTCACATGCACT TAGTTGACATTACATCTACATATATTAGCTTTTTCCTACATGAGCCATCTATTTACTTAGTAACCAGTGTTCTTAATGAAGTATTTAGTC TTGGGTTTCTTGTAAAATTTCTCTGCATTCCTTAGACAGTGTACTATACATGAAATATTCTTGTTGACCTAGTAATTTATATTATTCCAT TTAATTCTTAAACCTATGGCCTTTTTATTGAGCACACTCTTAAATCATTATTTGGCTTGTAAACATTCATCTGAAGTGTGGCTACAATCC TCTTTAAATAATCTAGGAAAAAAGAAAGATAAAGCTTACATTTTCACAGTTTTGGCTCTTAAACACATTCCACAAATGCCATTAAGAATT TATTTTGTTTTAGGCCAGTCATGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCTGAGGCAAGAACTGCTTGAGCCCAGGAGTTT GAGACTAGCCTGGGCAACATAGCAAGACCCTGTCTCTACCAAAAAAAAAAAAGTTTATTTTGTTTTAGAGTCATTTAATGTGTTTTTATG CACAATAATAGTGGGAGGTTGTTTTGTTGCATTTGTTTGTTTGTTTTGTTTTGTTTTGTTTTGCTTTCCATGTGGGAAAAGTTAACATTG GAACTGTTTCTAGTAAAAGATTTTTTTCAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGACCGAGGGAGCTGGAT CACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAAAAACTCCATCTCCACTAAAAATACAAAAGTAGCCTGGTGTGGTGGCA CATGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCC ATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGATGTTTTTCATTTTTTTCATGTTATCTATCC AAGCACTGTTCCATGGTCAGCAAGTCATATTTCATAATGTGGATTTTCCAAAATAATTATTGAATACAGCTATTCTATGGCTACTTTTAG TGTTTTTGTGGTATGTGGTGTGGGAGTGTTTATGGAATTACCAGTATCTTAAATTTTCAAAGGAACCTTGGAAGTCTATCACTCTAAATG AAAGTCTGTCACTCTACATGAATTATGTGCTCAAATTTGACCAACTCAGTTTAAGACACAAAACAGTAATTTGAAGAAGGAAAAATGAAG AGAGTTTCTAGTTTAATGGGTTAAATTTTTGTTGTTGCAATAGTAAGTTTAGTCTTCTTATAATATTTCTAAATGAAAAATCATAGGTAT TTGTTACCATGTGTGAAGATTAGTTTGTTAAAAGCAAAAGTGGTCGTGTGATATGCTAAATGTTAATTACTGATTTTATATGTTTAAATC ACGCCAAACAAATTATGTCTGTGCCATCCAGGGTCTGTTGTTAATCTTTTTCTGAGTACTTGGATTGGGATAAAGGGCTTGTACTATGCA CTTTTTATTAATGAATAAATAGAAAACGTTAGTAACACTTTGTGTTTTCTGTTTGGCTTTTGTGGGAAGAGAAGCAAGCATCTTTTGCCT AGTAGATGTTAACATTGTGTATTAAACAGTTTCTTTGTAAGACCTAACTAAAGACATTCCTAAGAGAGAACTTAAGTTTTAAGAAAAGTT GTGAGAAAAATATTCATAAAATATGCAGTATGGGGCCAGTATTCAGAAGTAGAGTTTCTCTCTTGGAAATTAGATTGCAGTCACATTTCT TTGGTTATTTTCTTTCTCTCTCTCTTCCTAGAATACCAGGTAAAATAGACATTTACTTTGAGGGACTAATATCCAATAGTGTTAATTATT TAAGCAGATATATCTAGCTCAAAAGGAACCAGACATGTCACTGTACCAAAAACACACAAAAGTGAAAATTTGCTTCTGTTCTGTGACCTA GAATGTGTCCAGACATTAAAGGTCATGAATACTCATATACATGTAAAAATAGTAACACTGCTCTGGCATGATTTTGACGTCAGTGTTTAT GTAATAACTTCAGTGTTATATTTAAAATAGATAAATTTGTGAAATAACAATTTCTTGGAGACAGTCAACTTTTTATGATTTAATCTAAAG ATTGTCATGTACATGTCAACGGATATCTGAATCCTCAGTGAAACTGTTAAGTTTTCATTAAATGACTCTGCTGCAATACTAGTTTTCTTC TCAGAAAATGGAATTCAAATAAAATAAGTTTTTTGGTCTTGGCATTTCACCTGATGACTTTCTCTGTTCTGGATCTCAATTTGTAGAGTT GTTGGGGGTTCCCCCCCCTCCAAAAGATGCTCCATAAACACCAACTACAATTATCTTTCATGATCATATTTTTAAAAATTGGAGTTACCT GTGTGATCTTTTCCCATTAGTTGCTTGTAGGGGACTTTAGTGTGCGTATCTCTTCTCAGACAAATGTATTATGTTCGTTCAATAAACACT >In-frame_RFC1_ENST00000349703_chr4_39367859_-_SMIM14_ENST00000511809_chr4_39574083_-_678nt CTTGCACTTCGCGGGAGAAGTTGTTGGCGCGAATGGATCCTGAGCCTCGATAACAGATTCCTCAACCGGCCCACCCGCCAGCCAGCCAGC GCCTTCATCCTGGGGCTGCGATGTTACGGCAGTCCCAGTCCTACTGCACAGACACAGAGTGTCTTCAGGAATGGACAAGATCCACCAGCT CCTCCTGTGGACTAACTTTGTGATATGGGAAGTGAAAATAGTTAACACCTTGCACGACCAAACGAACGAAGATGACCAGAGTACTCTTAA CCCCATTAGAACTGTTTTTCCTTTTGTATCTGCAATATGGGATGGTATTGTTTTCATGAGCTTCTAGAAATTTCACTTGCAAGTTTATTT TTGCTTCCTGTGTTACTGCCATTCCTATTTACAGTATATTTGAGTGAATGATTATATTTTTAAAAAGTTACATGGGGCTTTTTTGGTTGT CCTAAACTTACAAACATTCCACTCATTCTGTTTGTAACTGTGATTATAATTTTTGTGATAATTTCTGGCCTGATTGAAGGAAATTTGAGA GGTCTGCATTTATATATTTTAAATAGATTTGATAGGTTTTTAAATTGCTTTTTTTCATAAGGTATTTATAAAGTTATTTGGGGTTGTCTG >In-frame_RFC1_ENST00000381897_chr4_39367859_-_SMIM14_ENST00000295958_chr4_39574083_-_6158nt ACCGCGCGCCACTGTCTTCGCCTTCTTGCACTTCGCGGGAGAAGTTGTTGGCGCGAATGGATCCTGAGCCTCGATAACAGATTCCTCAAC CGGCCCACCCGCCAGCCAGCCAGCGCCTTCATCCTGGGGCTGCGATGTTACGGCAGTCCCAGTCCTACTGCACAGACACAGAGTGTCTTC AGGAATTACCGGGACCCTCTGGTGATAATGGCATCAGTGTTACAATGATCTTGGTAGCCTGGATGGTTATTGCATTGATCTTGTTCTTAC TGAGACCTCCTAATCTAAGAGGATCCAGCCTACCTGGAAAGCCAACCAGTCCTCATAATGGACAAGATCCACCAGCTCCTCCTGTGGACT AACTTTGTGATATGGGAAGTGAAAATAGTTAACACCTTGCACGACCAAACGAACGAAGATGACCAGAGTACTCTTAACCCCATTAGAACT GTTTTTCCTTTTGTATCTGCAATATGGGATGGTATTGTTTTCATGAGCTTCTAGAAATTTCACTTGCAAGTTTATTTTTGCTTCCTGTGT TACTGCCATTCCTATTTACAGTATATTTGAGTGAATGATTATATTTTTAAAAAGTTACATGGGGCTTTTTTGGTTGTCCTAAACTTACAA ACATTCCACTCATTCTGTTTGTAACTGTGATTATAATTTTTGTGATAATTTCTGGCCTGATTGAAGGAAATTTGAGAGGTCTGCATTTAT ATATTTTAAATAGATTTGATAGGTTTTTAAATTGCTTTTTTTCATAAGGTATTTATAAAGTTATTTGGGGTTGTCTGGGATTGTGTGAAA GAAAATTAGAACCACGCTGTATTTACATTTACCTTGGTAGTTTATTTGTGGATGGCAGTTTTCTGTAGTTTTGGGGACTGTGGTAGCTCT TGGATTGTTTTGCAAATTACAGCTGAAATCTGTGTCATGGATTAAACTGGCTTATGTGGCTAGAATAGGAAGAGAGAAAAAATGAAATGG TTGTTTACTAATTTTATACTCCCATTAAAAATCTCTAATGTTAAGAAAACCTTAAATAAACATGATTGATCAATATGGCAGATGATTTAC AGTCCATTATATGACATTTGTAAGCCACTCAACACTAGCCTTACAAGGTTCATGAAAGGAGGAAAACATTAATTCTTTCTGCCTTTGCTG ATATAATCCACATAGTAATAATTTAAGCTATAATTTATTTTTAAAATGAGTGCCTCTTGGGAAGCTTCTTTTCTGTTCTAACAGTTCCCT GTTAAAATGAAAATCTTAGGCCAGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCA GGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAAATTAGCCAGGGTTGGTGCATGTGCCTGTA ATCCCAGCTACTCAGGAGGCCAAAGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAACCAAGATCGCACCACTGCATTCC AGCCTAAGCAATAGAGCGAGACTCCCTCTCAAAAAAAAAAAAAGAAGAAAATCTTAAAGCTGTATTAGGGCCTGTTAGGTTACTGATATT TGAATGCCTATTTACTTATTTACTACATTGAGTCTTTTGTTATCCTCTGACCTATAAAATATTTTAATAAATTACTGGTTTACTTCAAGG GAAAAGAAGGAAAATGAGAAACATACATCTTTTTTTCACTCCTTATCTCATTCCTGTTTGGTGATGGGATGGATTGGGGTAGGAAGGAAT GTTAATATGAGAGAAATTTTAAAATGTATAAAAAAGTAAAAGGTTGTATTGTTTTGCTCAGTTTGAAATAAAGTGAATACCAATAGCACT TAAAAATGTCTGCATGGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGAATCACCTGAGGTCAG GAGTTCGAGACCAGCCTGACCAACATGGTGAAACCTTATCTCTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGTGTGCCTATAAT CCCAGCTACTGGGGAAGCTGAGGCAGGAAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTAAGCTGAGATCGTGCCACTGCACTCCAAT CAGGGCGACAGAGCGAGACTCTGTCTCAAAATAAATAAATAAATAAAAATGTCTGCATGACCCATATGGTTATGAAGTTTTTTTCCTAGC AAATGATTGCAGATTATTTATGGGGGCTAGAAGATATTTTGCTATCAATGTAAGGATTTTTTTCCCCTTAGGTCAGTCTATTCACTGTTT AGATCTGGTAAATTACTTGTATGAATTGAATAAATTCTCTGTATCATTGTACTGTTTAATAGTCTCTGATACAATTGTGATACTCATAAG GTATTTTCCCCCCTTTATTATGATTACATTCTAGATCATAAACATTGTAAGGGCATCTTTTCATTATATAATCCAATATTGATTGTTTGA ATTCCTCCTTGTACATCCTGGCTTTGTGCTCAATTTCTTGAAATAATATAACCAACTCTAAATTACTTGTGTTAATAGATCGGTAACATG ACACAGGTAAGTTAAATCCTGGATAAATGAGCCCCACAGAATAAAGGTTTTTCCTCTTGCTGTGGCCTACTGGAAGCCTTCCTAACTCTA TAGCTGGTAAAGTAGAGCAGAAAGGGCCAGAATGGCTTAAGATGGAGCTAAATCCCTATAGCATTCCATTTTCTGCTCTTGCCTCTTGAA CTTAGAAGGCTTGCCCATATATCCTAACAATCTGTTCTCTGAGCTGTTAGGCCAATCCCTGGCAAGAGATATTGATGTAGTCACTGAATC TATGGCTCACAAATAATTGAAAATTGGCTTTGGGAGCTGGGCGCAGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCAGG TGGATCACTTGAGGTCAGGAGGTTGAGACCAGCCTGGCCAAGACGGTGAAACCCCGTGCCTACAAAAAATTAGCCGGGTTTGGTGACACG GCCTGTAGTCTTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGACAGGTTGCAGTAAGCCAAGATCACGCCACTGC ACTCCAGCTTGAGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGGCTTTAGAAGGCTTTATTGGATGAAATGGCTGAAACTTGGATAC AGAATGTCTAGTATTAGACACCTAAAAATCTGGATTCTTTTTGGTTGTTGTTTTGAGATGGAGTTTTGCTCTTTCGCCCAAGCTGGAGTG AAGTGGCGCGACCTTGGCTCACTGCAACATCCACCCCCAGGTTCGAGCGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTATAAGT GCCCACCACCACGCCCAGCTAATTTTTGTATCTTTAGTAGAGATGGGGTTTCGCCATGTAGGCCAGGCTGGTCTCAAACTCCTGACCTCA GGTGATCCACCCACTATGGCCTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCGTGCCTGGCCAGAAAATCTGGATTCTTATTCCTAG TTCTTCATTTCTGTCACATGCACTTAGTTGACATTACATCTACATATATTAGCTTTTTCCTACATGAGCCATCTATTTACTTAGTAACCA GTGTTCTTAATGAAGTATTTAGTCTTGGGTTTCTTGTAAAATTTCTCTGCATTCCTTAGACAGTGTACTATACATGAAATATTCTTGTTG ACCTAGTAATTTATATTATTCCATTTAATTCTTAAACCTATGGCCTTTTTATTGAGCACACTCTTAAATCATTATTTGGCTTGTAAACAT TCATCTGAAGTGTGGCTACAATCCTCTTTAAATAATCTAGGAAAAAAGAAAGATAAAGCTTACATTTTCACAGTTTTGGCTCTTAAACAC ATTCCACAAATGCCATTAAGAATTTATTTTGTTTTAGGCCAGTCATGGTGGCTCATGCCTGTAATCCCAGCAATTTGGGAGGCTGAGGCA AGAACTGCTTGAGCCCAGGAGTTTGAGACTAGCCTGGGCAACATAGCAAGACCCTGTCTCTACCAAAAAAAAAAAAGTTTATTTTGTTTT AGAGTCATTTAATGTGTTTTTATGCACAATAATAGTGGGAGGTTGTTTTGTTGCATTTGTTTGTTTGTTTTGTTTTGTTTTGTTTTGCTT TCCATGTGGGAAAAGTTAACATTGGAACTGTTTCTAGTAAAAGATTTTTTTCAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAACAC TTTGGGAGACCGAGGGAGCTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGAAAAACTCCATCTCCACTAAAAATA CAAAAGTAGCCTGGTGTGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAG GTTGCAGTGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAAGATGTTTT TCATTTTTTTCATGTTATCTATCCAAGCACTGTTCCATGGTCAGCAAGTCATATTTCATAATGTGGATTTTCCAAAATAATTATTGAATA CAGCTATTCTATGGCTACTTTTAGTGTTTTTGTGGTATGTGGTGTGGGAGTGTTTATGGAATTACCAGTATCTTAAATTTTCAAAGGAAC CTTGGAAGTCTATCACTCTAAATGAAAGTCTGTCACTCTACATGAATTATGTGCTCAAATTTGACCAACTCAGTTTAAGACACAAAACAG TAATTTGAAGAAGGAAAAATGAAGAGAGTTTCTAGTTTAATGGGTTAAATTTTTGTTGTTGCAATAGTAAGTTTAGTCTTCTTATAATAT TTCTAAATGAAAAATCATAGGTATTTGTTACCATGTGTGAAGATTAGTTTGTTAAAAGCAAAAGTGGTCGTGTGATATGCTAAATGTTAA TTACTGATTTTATATGTTTAAATCACGCCAAACAAATTATGTCTGTGCCATCCAGGGTCTGTTGTTAATCTTTTTCTGAGTACTTGGATT GGGATAAAGGGCTTGTACTATGCACTTTTTATTAATGAATAAATAGAAAACGTTAGTAACACTTTGTGTTTTCTGTTTGGCTTTTGTGGG AAGAGAAGCAAGCATCTTTTGCCTAGTAGATGTTAACATTGTGTATTAAACAGTTTCTTTGTAAGACCTAACTAAAGACATTCCTAAGAG AGAACTTAAGTTTTAAGAAAAGTTGTGAGAAAAATATTCATAAAATATGCAGTATGGGGCCAGTATTCAGAAGTAGAGTTTCTCTCTTGG AAATTAGATTGCAGTCACATTTCTTTGGTTATTTTCTTTCTCTCTCTCTTCCTAGAATACCAGGTAAAATAGACATTTACTTTGAGGGAC TAATATCCAATAGTGTTAATTATTTAAGCAGATATATCTAGCTCAAAAGGAACCAGACATGTCACTGTACCAAAAACACACAAAAGTGAA AATTTGCTTCTGTTCTGTGACCTAGAATGTGTCCAGACATTAAAGGTCATGAATACTCATATACATGTAAAAATAGTAACACTGCTCTGG CATGATTTTGACGTCAGTGTTTATGTAATAACTTCAGTGTTATATTTAAAATAGATAAATTTGTGAAATAACAATTTCTTGGAGACAGTC AACTTTTTATGATTTAATCTAAAGATTGTCATGTACATGTCAACGGATATCTGAATCCTCAGTGAAACTGTTAAGTTTTCATTAAATGAC TCTGCTGCAATACTAGTTTTCTTCTCAGAAAATGGAATTCAAATAAAATAAGTTTTTTGGTCTTGGCATTTCACCTGATGACTTTCTCTG TTCTGGATCTCAATTTGTAGAGTTGTTGGGGGTTCCCCCCCCTCCAAAAGATGCTCCATAAACACCAACTACAATTATCTTTCATGATCA TATTTTTAAAAATTGGAGTTACCTGTGTGATCTTTTCCCATTAGTTGCTTGTAGGGGACTTTAGTGTGCGTATCTCTTCTCAGACAAATG >In-frame_RFC1_ENST00000381897_chr4_39367859_-_SMIM14_ENST00000511809_chr4_39574083_-_702nt ACCGCGCGCCACTGTCTTCGCCTTCTTGCACTTCGCGGGAGAAGTTGTTGGCGCGAATGGATCCTGAGCCTCGATAACAGATTCCTCAAC CGGCCCACCCGCCAGCCAGCCAGCGCCTTCATCCTGGGGCTGCGATGTTACGGCAGTCCCAGTCCTACTGCACAGACACAGAGTGTCTTC AGGAATGGACAAGATCCACCAGCTCCTCCTGTGGACTAACTTTGTGATATGGGAAGTGAAAATAGTTAACACCTTGCACGACCAAACGAA CGAAGATGACCAGAGTACTCTTAACCCCATTAGAACTGTTTTTCCTTTTGTATCTGCAATATGGGATGGTATTGTTTTCATGAGCTTCTA GAAATTTCACTTGCAAGTTTATTTTTGCTTCCTGTGTTACTGCCATTCCTATTTACAGTATATTTGAGTGAATGATTATATTTTTAAAAA GTTACATGGGGCTTTTTTGGTTGTCCTAAACTTACAAACATTCCACTCATTCTGTTTGTAACTGTGATTATAATTTTTGTGATAATTTCT GGCCTGATTGAAGGAAATTTGAGAGGTCTGCATTTATATATTTTAAATAGATTTGATAGGTTTTTAAATTGCTTTTTTTCATAAGGTATT |
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FusionGenePPI for RFC1_SMIM14 |
| 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 |
| RFC1 | ATM, BLM, BRCA1, MLH1, MRE11A, MSH2, MSH6, NBN, RAD50, HDAC1, BRD4, PCNA, TP53, RELA, CDK4, CCND1, RB1, XRCC5, RFC3, RAD17, CHTF18, RFC2, RFC4, RFC5, PMS1, SSBP3, ZSCAN1, SAP25, CSNK2B, HDGF, SIRT7, MYOC, LAMP2, RBM14, WDR18, NOTCH1, SMC1A, YWHAQ, RPA1, RPA2, RPA3, SPRTN, NIFK, THBS3, NTRK1, GLYR1, PDS5A, RACGAP1, CDC45, SMC2, SMC4, XRCC6, MUS81, HIST1H2BG, HIST1H3A, DAXX, HNRNPU, EMC2, NOP56, IBTK, C10orf12, NF2, H2AFY2, TEAD2, RRP8, RPL18A, FGF3, UBC, CHEK2, CHEK1 | SMIM14 | ELAVL1, LSM4, FATE1 |
| - 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 RFC1_SMIM14 |
| 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 RFC1_SMIM14 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RFC1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Hgene | RFC1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Hgene | RFC1 | C0029463 | Osteosarcoma | 1 | CTD_human |
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