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Fusion gene ID: 11649 |
FusionGeneSummary for ENTHD1_RNF212 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ENTHD1_RNF212 | Fusion gene ID: 11649 | Hgene | Tgene | Gene symbol | ENTHD1 | RNF212 | Gene ID | 150350 | 285498 |
| Gene name | ENTH domain containing 1 | ring finger protein 212 | |
| Synonyms | CACNA1I|dJ370M22.3 | ZHP3 | |
| Cytomap | 22q13.1 | 4p16.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ENTH domain-containing protein 1dJ370M22.3 (EPSIN 2B)epsin-2B | probable E3 SUMO-protein ligase RNF212probable E3 SUMO-protein transferase RNF212 | |
| Modification date | 20180329 | 20180523 | |
| UniProtAcc | Q8IYW4 | Q495C1 | |
| Ensembl transtripts involved in fusion gene | ENST00000325157, ENST00000490326, | ENST00000382968, ENST00000433731, ENST00000333673, ENST00000505730, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 2=18 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ENTHD1 [Title/Abstract] AND RNF212 [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 |
| 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 | SKCM | TCGA-EE-A2ME-06A | ENTHD1 | chr22 | 40257770 | - | RNF212 | chr4 | 1067450 | - |
| * 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 | ENST00000325157 | ENST00000382968 | ENTHD1 | chr22 | 40257770 | - | RNF212 | chr4 | 1067450 | - |
| In-frame | ENST00000325157 | ENST00000433731 | ENTHD1 | chr22 | 40257770 | - | RNF212 | chr4 | 1067450 | - |
| 5CDS-intron | ENST00000325157 | ENST00000333673 | ENTHD1 | chr22 | 40257770 | - | RNF212 | chr4 | 1067450 | - |
| 5CDS-intron | ENST00000325157 | ENST00000505730 | ENTHD1 | chr22 | 40257770 | - | RNF212 | chr4 | 1067450 | - |
| intron-3CDS | ENST00000490326 | ENST00000382968 | ENTHD1 | chr22 | 40257770 | - | RNF212 | chr4 | 1067450 | - |
| intron-3CDS | ENST00000490326 | ENST00000433731 | ENTHD1 | chr22 | 40257770 | - | RNF212 | chr4 | 1067450 | - |
| intron-intron | ENST00000490326 | ENST00000333673 | ENTHD1 | chr22 | 40257770 | - | RNF212 | chr4 | 1067450 | - |
| intron-intron | ENST00000490326 | ENST00000505730 | ENTHD1 | chr22 | 40257770 | - | RNF212 | chr4 | 1067450 | - |
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FusionProtFeatures for ENTHD1_RNF212 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ENTHD1 | RNF212 |
| SUMO E3 ligase that acts as a regulator of crossing-overduring meiosis: required to couple chromosome synapsis to theformation of crossover-specific recombination complexes. Localizesto recombination sites and stabilizes meiosis-specificrecombination factors, such as MutS-gamma complex proteins (MSH4and MSH5) and TEX11. May mediate sumoylation of target proteinsMSH4 and/or MSH5, leading to enhance their binding torecombination sites. Acts as a limiting factor for crossoverdesignation and/or reinforcement and plays an antagonist role withCCNB1IP1/HEI10 in the regulation of meiotic recombination (Bysimilarity). {ECO:0000250}. |
| 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 |
| Hgene | ENTHD1 | chr22:40257770 | chr4:1067450 | ENST00000325157 | - | 3 | 7 | 9_141 | 197 | 608 | Domain | ENTH |
| Tgene | >RNF212 | chr22:40257770 | chr4:1067450 | ENST00000333673 | - | 0 | 4 | 91_124 | -22 | 274 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | >RNF212 | chr22:40257770 | chr4:1067450 | ENST00000333673 | - | 0 | 4 | 7_46 | -22 | 274 | Zinc finger | RING-type |
| - 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 | >ENTHD1 | chr22:40257770 | chr4:1067450 | ENST00000325157 | - | 3 | 7 | 543_574 | 197 | 608 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | RNF212 | chr22:40257770 | chr4:1067450 | ENST00000382968 | - | 7 | 10 | 91_124 | 170 | 233 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | RNF212 | chr22:40257770 | chr4:1067450 | ENST00000433731 | - | 7 | 10 | 91_124 | 170 | 298 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | RNF212 | chr22:40257770 | chr4:1067450 | ENST00000382968 | - | 7 | 10 | 7_46 | 170 | 233 | Zinc finger | RING-type |
| Tgene | RNF212 | chr22:40257770 | chr4:1067450 | ENST00000433731 | - | 7 | 10 | 7_46 | 170 | 298 | Zinc finger | RING-type |
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FusionGeneSequence for ENTHD1_RNF212 |
| 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_ENTHD1_ENST00000325157_chr22_40257770_-_RNF212_ENST00000382968_chr4_1067450_-_260aa MAFRRQVKNFVKNYSDAEIKVREATSNDPWGPSSSLMLDISDLTFNTISLSEIMNMLWHRLNDHGKNWRHVYKSLTLMDYLIKNGSKKVI QHCREGFCNLQTLKDFQHIDEAGKDQGYYIREKSKQVITLLMDEPLLCKEREVACRTRQRTSHSILFSKRQLGSSNSLTACTSAPTPDIS >In-frame_ENTHD1_ENST00000325157_chr22_40257770_-_RNF212_ENST00000433731_chr4_1067450_-_325aa MAFRRQVKNFVKNYSDAEIKVREATSNDPWGPSSSLMLDISDLTFNTISLSEIMNMLWHRLNDHGKNWRHVYKSLTLMDYLIKNGSKKVI QHCREGFCNLQTLKDFQHIDEAGKDQGYYIREKSKQVITLLMDEPLLCKEREVACRTRQRTSHSILFSKRQLGSSNSLTACTSAPTPDIS ASEKKYKLPKFGRLHNKIXDSSRPCENLHDXSTSRWTNGATSNSFFLFHPMVDLVXAPCARRVCHFQRFTMFLHRRLSSLAAPPSVQFWK |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ENTHD1_ENST00000325157_chr22_40257770_-_RNF212_ENST00000382968_chr4_1067450_-_781nt ATGGCGTTCAGGAGACAAGTGAAAAACTTTGTGAAAAATTACTCAGATGCTGAAATAAAAGTCAGGGAAGCAACTTCTAACGACCCTTGG GGTCCCTCTAGTTCTCTGATGTTAGATATCAGTGACTTGACTTTCAACACAATTTCTCTCTCAGAGATTATGAATATGCTGTGGCACAGA CTCAATGACCATGGGAAGAACTGGCGCCACGTGTATAAATCCCTTACCCTAATGGATTATCTCATCAAGAATGGATCAAAGAAAGTTATT CAGCATTGCAGAGAGGGGTTCTGTAACCTTCAAACACTAAAAGATTTTCAGCACATAGATGAAGCTGGAAAAGACCAAGGTTATTATATC CGGGAAAAATCTAAGCAAGTCATCACATTGCTGATGGATGAACCATTGCTGTGTAAAGAGAGGGAAGTGGCATGTCGGACTAGACAGCGT ACCTCCCACTCTATATTGTTTTCTAAAAGACAACTTGGTTCAAGTAACTCACTGACAGCGTGCACTTCTGCCCCCACACCGGATATTTCT GCTTCAGAGAAGAAGTATAAGCTTCCTAAGTTTGGAAGGTTACATAATAAAATCTGAGATAGCAGCCGGCCCTGCGAGAATCTCCATGAT TAGTCCACCTCAAGATGGACGAATGGCCCCCTGTGCCCGGAGAGTGTGTCATTTCCAGAGGTTCACCATGTTTCTGCATAGACGTCTGTC >In-frame_ENTHD1_ENST00000325157_chr22_40257770_-_RNF212_ENST00000433731_chr4_1067450_-_976nt ATGGCGTTCAGGAGACAAGTGAAAAACTTTGTGAAAAATTACTCAGATGCTGAAATAAAAGTCAGGGAAGCAACTTCTAACGACCCTTGG GGTCCCTCTAGTTCTCTGATGTTAGATATCAGTGACTTGACTTTCAACACAATTTCTCTCTCAGAGATTATGAATATGCTGTGGCACAGA CTCAATGACCATGGGAAGAACTGGCGCCACGTGTATAAATCCCTTACCCTAATGGATTATCTCATCAAGAATGGATCAAAGAAAGTTATT CAGCATTGCAGAGAGGGGTTCTGTAACCTTCAAACACTAAAAGATTTTCAGCACATAGATGAAGCTGGAAAAGACCAAGGTTATTATATC CGGGAAAAATCTAAGCAAGTCATCACATTGCTGATGGATGAACCATTGCTGTGTAAAGAGAGGGAAGTGGCATGTCGGACTAGACAGCGT ACCTCCCACTCTATATTGTTTTCTAAAAGACAACTTGGTTCAAGTAACTCACTGACAGCGTGCACTTCTGCCCCCACACCGGATATTTCT GCTTCAGAGAAGAAGTATAAGCTTCCTAAGTTTGGAAGGTTACATAATAAAATCTGAGATAGCAGCCGGCCCTGCGAGAATCTCCATGAT TAGTCCACCTCAAGATGGACGAATGGGGCCACATCTAACAGCTTCTTTCTGTTTCATCCCATGGTTGACCTTGTCTAAGCCCCCTGTGCC CGGAGAGTGTGTCATTTCCAGAGGTTCACCATGTTTCTGCATAGACGTCTGTCCTCACTGGCTGCTCCTCCTAGCGTTCAGTTCTGGAAG GCACGGGGAACTCACCAACTCTAAAACACTTCCAATATATGCTGAGGTACAAAGGGCCGTCTTGTTTCCGTTCCAGCAGGCTGAGGGCAC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ENTHD1_ENST00000325157_chr22_40257770_-_RNF212_ENST00000382968_chr4_1067450_-_2567nt GGGGACCGGCCTGGGCCCTTGAGCCTGGCTGGAGTAGGTGGAATATCCTGGGGAGAGGAAGTTTGGTCGTTGGGCAGCGGCCGACTTTCC TCTCAGGAAATTGATACTTTATCAACATAGAGATTAATTATTTGTATTTGGGAGCAGCAGAACTGGGGACCAATTACCTGTCAAGAGTTT TATAAACCCGTGACATAAACTGTTATTCCATTGCTTTCATCCTCCATCTCACCTTGGAACTTGTATTACTTATGGCGTTCAGGAGACAAG TGAAAAACTTTGTGAAAAATTACTCAGATGCTGAAATAAAAGTCAGGGAAGCAACTTCTAACGACCCTTGGGGTCCCTCTAGTTCTCTGA TGTTAGATATCAGTGACTTGACTTTCAACACAATTTCTCTCTCAGAGATTATGAATATGCTGTGGCACAGACTCAATGACCATGGGAAGA ACTGGCGCCACGTGTATAAATCCCTTACCCTAATGGATTATCTCATCAAGAATGGATCAAAGAAAGTTATTCAGCATTGCAGAGAGGGGT TCTGTAACCTTCAAACACTAAAAGATTTTCAGCACATAGATGAAGCTGGAAAAGACCAAGGTTATTATATCCGGGAAAAATCTAAGCAAG TCATCACATTGCTGATGGATGAACCATTGCTGTGTAAAGAGAGGGAAGTGGCATGTCGGACTAGACAGCGTACCTCCCACTCTATATTGT TTTCTAAAAGACAACTTGGTTCAAGTAACTCACTGACAGCGTGCACTTCTGCCCCCACACCGGATATTTCTGCTTCAGAGAAGAAGTATA AGCTTCCTAAGTTTGGAAGGTTACATAATAAAATCTGAGATAGCAGCCGGCCCTGCGAGAATCTCCATGATTAGTCCACCTCAAGATGGA CGAATGGCCCCCTGTGCCCGGAGAGTGTGTCATTTCCAGAGGTTCACCATGTTTCTGCATAGACGTCTGTCCTCACTGGCTGCTCCTCCT AGCGTTCAGTTCTGGAAGGCACGGGGAACTCACCAACTCTAAAACACTTCCAATATATGCTGAGGTACAAAGGGCCGTCTTGTTTCCGTT CCAGCAGGCTGAGGGCACCCTGGACACGTTCAGAACACCCGCTGTGTCTGTTGTGTTTCCTCTTTGCCAATTTGAAAGGAAAAAGTCATT TTGATTTGCATTTATGTGACTATTAATGATTCTGAGTGTTTTCAATTTATTCCTCTGTGTTTTTTCTACAAATTATCTGCTTTATTCCTT TGTCATTTATGTGGAAGCCCTCAGTGTGCAGGATATTAACCTTTTACCCAATTTGCTTTGTAATTTTATATTTGACCTTTGAATTTTAGA GACAATATTTTTATGTACTCATATATATTGTTATTATCCCTTTTATTTTATAGGTTCTCATGCTTAGGGAGTTTTTTTTTCACATACTTA AATCATTTTTTTCTAACTGGGTGGTTTTTAAAACTTTTTCTTAGAGCAGTTTTAGGTTCACAGAAAAATTGAAAGGAAGGTACAGATTTC CCATATACACCATGACTCCACACACGCACAGCTCCCCCATCATCCTCATCCTCCACCAGAGCAGTCCATGTGTTAAAACTGATGATCCTA CTTGAATACATCATTATCACCCAACGTCCATGGTTTACATTAGGGTTCACTCTAGGTGTCGAATGTTCTATGGGTTTGAACAAATATCTA GTGACATGTGTCCCCATCGTAGCAGCATATGGAATAGTGCCACACCCTAAAAATCCTCTGTGCGCCACCTGTTCATCCTTCCCCCACCTC CCACCAACCCTTGACAGCCACTGATCTTTTTACGGTCCCTTTTTCAGACTCTCCTGGAGTTGGAATTGTACAGTATGTGGCTTCTCAGAT TGACTCCTTTCACTTAGCAATACACACTTATGGTTCCCCCATCTCTTCTCATGGTTTGCTAGCTCATTTTTTCAGTCACTGAATAATATT CCATTATCTGGATGTATCATAGTTCATCCATTCACCTACTGAAGGGCATCTTGGTTGCTTCCAAGTTTTGGCAATTATGAATTAAGCTGC TATAGATGTCCATGTGCCAGGGTTTTGTGTAGACATGTTTTCAGCTCCTTTGGGTAAATACTAAGGAGTGTGAATGCTGGATCAGATGGT GAGAGGGTGTTTAGTTTTGAAAGAAATTGCCAAACTACCTTCCAAAGTGGCAGCAGCTTTTCGCATTCCCACTAGCAACGAATGAGAGTT CCTGTTGCTCCACGTCCTCACATTTGATGATGTCAGTGTTCTGGATTTTGGCCAGCTGATAGGTATGTAGTGGTATCTTGCTGTTTTATT TTGCATTTCATTGATAACATATGACTAGGAGCATCTTATGCTGATTTTTCATCTGCATATCTTCTTTGCTGAAGTGTCTGTTAAGGTATT TGGCCCATTTTTTAATTGGATTGTTTTCTTATTGTTGAGTTTTAAGAGTCCTGTGTATATTTTGGATGACATTTCTTTTTTGTGTGTCTT >In-frame_ENTHD1_ENST00000325157_chr22_40257770_-_RNF212_ENST00000433731_chr4_1067450_-_1345nt GGGGACCGGCCTGGGCCCTTGAGCCTGGCTGGAGTAGGTGGAATATCCTGGGGAGAGGAAGTTTGGTCGTTGGGCAGCGGCCGACTTTCC TCTCAGGAAATTGATACTTTATCAACATAGAGATTAATTATTTGTATTTGGGAGCAGCAGAACTGGGGACCAATTACCTGTCAAGAGTTT TATAAACCCGTGACATAAACTGTTATTCCATTGCTTTCATCCTCCATCTCACCTTGGAACTTGTATTACTTATGGCGTTCAGGAGACAAG TGAAAAACTTTGTGAAAAATTACTCAGATGCTGAAATAAAAGTCAGGGAAGCAACTTCTAACGACCCTTGGGGTCCCTCTAGTTCTCTGA TGTTAGATATCAGTGACTTGACTTTCAACACAATTTCTCTCTCAGAGATTATGAATATGCTGTGGCACAGACTCAATGACCATGGGAAGA ACTGGCGCCACGTGTATAAATCCCTTACCCTAATGGATTATCTCATCAAGAATGGATCAAAGAAAGTTATTCAGCATTGCAGAGAGGGGT TCTGTAACCTTCAAACACTAAAAGATTTTCAGCACATAGATGAAGCTGGAAAAGACCAAGGTTATTATATCCGGGAAAAATCTAAGCAAG TCATCACATTGCTGATGGATGAACCATTGCTGTGTAAAGAGAGGGAAGTGGCATGTCGGACTAGACAGCGTACCTCCCACTCTATATTGT TTTCTAAAAGACAACTTGGTTCAAGTAACTCACTGACAGCGTGCACTTCTGCCCCCACACCGGATATTTCTGCTTCAGAGAAGAAGTATA AGCTTCCTAAGTTTGGAAGGTTACATAATAAAATCTGAGATAGCAGCCGGCCCTGCGAGAATCTCCATGATTAGTCCACCTCAAGATGGA CGAATGGGGCCACATCTAACAGCTTCTTTCTGTTTCATCCCATGGTTGACCTTGTCTAAGCCCCCTGTGCCCGGAGAGTGTGTCATTTCC AGAGGTTCACCATGTTTCTGCATAGACGTCTGTCCTCACTGGCTGCTCCTCCTAGCGTTCAGTTCTGGAAGGCACGGGGAACTCACCAAC TCTAAAACACTTCCAATATATGCTGAGGTACAAAGGGCCGTCTTGTTTCCGTTCCAGCAGGCTGAGGGCACCCTGGACACGTTCAGAACA CCCGCTGTGTCTGTTGTGTTTCCTCTTTGCCAATTTGAAAGGAAAAAGTCATTTTGATTTGCATTTATGTGACTATTAATGATTCTGAGT |
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FusionGenePPI for ENTHD1_RNF212 |
| 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 |
| ENTHD1 | RNF212 | ELAVL1 |
| - 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 ENTHD1_RNF212 |
| 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 ENTHD1_RNF212 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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