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Fusion gene ID: 11035 |
FusionGeneSummary for EFCAB8_TNNC2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EFCAB8_TNNC2 | Fusion gene ID: 11035 | Hgene | Tgene | Gene symbol | EFCAB8 | TNNC2 | Gene ID | 388795 | 7125 |
| Gene name | EF-hand calcium binding domain 8 | troponin C2, fast skeletal type | |
| Synonyms | - | - | |
| Cytomap | 20q11.21 | 20q13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | EF-hand calcium-binding domain-containing protein 8EF-hand domain-containing protein ENSP00000383366 | troponin C, skeletal muscletroponin C type 2 (fast) | |
| Modification date | 20180403 | 20180523 | |
| UniProtAcc | A8MWE9 | P02585 | |
| Ensembl transtripts involved in fusion gene | ENST00000400522, ENST00000524882, | ENST00000372555, ENST00000372557, | |
| 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: EFCAB8 [Title/Abstract] AND TNNC2 [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 |
| Tgene | TNNC2 | GO:0003009 | skeletal muscle contraction | 17194691 |
| 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 | PRAD | TCGA-J9-A8CN-01A | EFCAB8 | chr20 | 31484333 | + | TNNC2 | chr20 | 44453473 | - |
| * 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 | ENST00000400522 | ENST00000372555 | EFCAB8 | chr20 | 31484333 | + | TNNC2 | chr20 | 44453473 | - |
| 5CDS-5UTR | ENST00000400522 | ENST00000372557 | EFCAB8 | chr20 | 31484333 | + | TNNC2 | chr20 | 44453473 | - |
| intron-3CDS | ENST00000524882 | ENST00000372555 | EFCAB8 | chr20 | 31484333 | + | TNNC2 | chr20 | 44453473 | - |
| intron-5UTR | ENST00000524882 | ENST00000372557 | EFCAB8 | chr20 | 31484333 | + | TNNC2 | chr20 | 44453473 | - |
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FusionProtFeatures for EFCAB8_TNNC2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EFCAB8 | TNNC2 |
| Troponin is the central regulatory protein of striatedmuscle contraction. Tn consists of three components: Tn-I which isthe inhibitor of actomyosin ATPase, Tn-T which contains thebinding site for tropomyosin and Tn-C. The binding of calcium toTn-C abolishes the inhibitory action of Tn on actin filaments. |
| 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 | EFCAB8 | chr20:31484333 | chr20:44453473 | ENST00000400522 | + | 10 | 13 | 52_86 | 319 | 395 | Domain | EF-hand 1 |
| Hgene | EFCAB8 | chr20:31484333 | chr20:44453473 | ENST00000400522 | + | 10 | 13 | 87_122 | 319 | 395 | Domain | EF-hand 2 |
| Tgene | >TNNC2 | chr20:31484333 | chr20:44453473 | ENST00000372555 | - | 0 | 6 | 104_115 | 1 | 161 | Calcium binding | Note=3 |
| Tgene | >TNNC2 | chr20:31484333 | chr20:44453473 | ENST00000372555 | - | 0 | 6 | 140_151 | 1 | 161 | Calcium binding | Note=4 |
| Tgene | >TNNC2 | chr20:31484333 | chr20:44453473 | ENST00000372555 | - | 0 | 6 | 28_39 | 1 | 161 | Calcium binding | Note=1 |
| Tgene | >TNNC2 | chr20:31484333 | chr20:44453473 | ENST00000372555 | - | 0 | 6 | 64_75 | 1 | 161 | Calcium binding | Note=2 |
| Tgene | >TNNC2 | chr20:31484333 | chr20:44453473 | ENST00000372555 | - | 0 | 6 | 127_160 | 1 | 161 | Domain | EF-hand 4 |
| Tgene | >TNNC2 | chr20:31484333 | chr20:44453473 | ENST00000372555 | - | 0 | 6 | 15_50 | 1 | 161 | Domain | EF-hand 1 |
| Tgene | >TNNC2 | chr20:31484333 | chr20:44453473 | ENST00000372555 | - | 0 | 6 | 51_86 | 1 | 161 | Domain | EF-hand 2 |
| Tgene | >TNNC2 | chr20:31484333 | chr20:44453473 | ENST00000372555 | - | 0 | 6 | 91_126 | 1 | 161 | Domain | EF-hand 3 |
| - 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 |
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FusionGeneSequence for EFCAB8_TNNC2 |
| 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_EFCAB8_ENST00000400522_chr20_31484333_+_TNNC2_ENST00000372555_chr20_44453473_-_479aa MSSEDLAEIPQLQKLSIPHGFQNKEAASSPTPSITLSQVPDLQPGSQLFTEIHLAKIEKMFEEDINSTGALGMDAFIKAMKKVLSSVSDE MLKELFLKVDSDCEGFVTWQKYVDYMMREFQGKEDMRKSQYRLHFYLPMTVVPLNHGCEVVKVVFLIHRFKKIGCFLTVTKDGILQFWSE SFSLMSSFRLNQTQQLYNQPMWVIDMVCLHNMNLVAVASTRQKIDFFDISDHKCVRAFTFVDLDSCALVMDYWSDYHRGVFCYGDAKGNV IVFTSENMTSGLFNPRILPRASKWDHWIKVSLQKLLNEKSALHRSYRLKTDQQAEARSYLSEEMIAEFKAAFDMFDADGGGDISVKELGT VMRMLGQTPTKEELDAIIEEVDEDGSGTIDFEEFLVMMVRQMKEDAKGKSEEELAECFRIFDRNADGYIDPEELAEIFRASGEHVTDEEI |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_EFCAB8_ENST00000400522_chr20_31484333_+_TNNC2_ENST00000372555_chr20_44453473_-_1437nt ATGTCTTCTGAAGACTTAGCAGAGATCCCTCAACTCCAAAAGCTGTCCATCCCACATGGCTTCCAGAACAAGGAGGCTGCTAGCTCCCCA ACACCATCCATCACCCTTAGCCAGGTGCCTGACCTCCAGCCTGGGTCCCAGCTGTTTACTGAGATACACCTGGCCAAGATAGAGAAAATG TTTGAGGAGGACATCAACTCGACTGGAGCCCTGGGCATGGACGCCTTCATCAAGGCCATGAAGAAGGTTCTGAGCAGTGTGTCGGACGAG ATGCTAAAGGAGCTGTTTTTGAAGGTGGACTCGGACTGTGAAGGCTTTGTCACCTGGCAAAAGTATGTGGATTACATGATGCGTGAGTTC CAGGGAAAAGAGGACATGCGAAAGAGCCAGTACCGCCTGCACTTCTACCTTCCCATGACGGTCGTCCCCCTGAACCATGGCTGTGAGGTG GTGAAGGTGGTGTTTTTAATCCACCGGTTCAAGAAGATCGGGTGTTTCCTGACTGTCACCAAAGACGGGATCCTGCAGTTCTGGTCTGAG TCCTTCTCGCTGATGAGCTCCTTTAGGCTTAACCAGACCCAGCAGCTCTACAACCAGCCGATGTGGGTCATTGACATGGTATGTCTGCAC AATATGAACCTCGTTGCAGTTGCGTCTACCAGGCAAAAGATAGATTTCTTTGATATTAGTGACCACAAATGTGTCCGGGCCTTCACCTTT GTTGATCTGGACAGCTGTGCTCTGGTCATGGACTACTGGTCTGACTATCACAGAGGTGTGTTCTGCTATGGAGACGCCAAAGGCAACGTC ATTGTCTTCACCTCCGAAAACATGACCAGTGGGCTGTTCAACCCCCGTATCCTCCCCAGGGCCTCCAAGTGGGATCACTGGATCAAAGTT TCCTTGCAGAAACTCTTAAATGAGAAGTCTGCTTTGCATAGAAGCTACCGGCTGAAGACGGACCAGCAGGCTGAGGCCAGGTCCTACCTC AGCGAAGAGATGATCGCTGAGTTCAAGGCTGCCTTTGACATGTTTGATGCTGATGGTGGTGGGGACATCAGCGTCAAGGAGTTGGGCACG GTGATGAGGATGCTGGGCCAGACACCCACCAAGGAGGAGCTGGACGCCATCATCGAGGAGGTGGATGAGGACGGCAGCGGCACCATCGAC TTCGAGGAGTTCTTGGTCATGATGGTGCGCCAGATGAAAGAGGACGCGAAAGGGAAGAGCGAGGAGGAGCTGGCCGAGTGCTTCCGCATC TTCGACAGGAATGCAGACGGCTACATCGACCCGGAGGAGCTGGCTGAGATTTTCAGGGCCTCCGGGGAGCACGTGACGGACGAGGAGATC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_EFCAB8_ENST00000400522_chr20_31484333_+_TNNC2_ENST00000372555_chr20_44453473_-_1665nt TTTGTTGAGATGGGAGTTGGAAAGTGTTAGCACTTTGCCAGACTTTGCCAGCAAGATTAACTGAGGAGATCAAATTGAGTCAGGGTCAAG GCTAATGTCTTCTGAAGACTTAGCAGAGATCCCTCAACTCCAAAAGCTGTCCATCCCACATGGCTTCCAGAACAAGGAGGCTGCTAGCTC CCCAACACCATCCATCACCCTTAGCCAGGTGCCTGACCTCCAGCCTGGGTCCCAGCTGTTTACTGAGATACACCTGGCCAAGATAGAGAA AATGTTTGAGGAGGACATCAACTCGACTGGAGCCCTGGGCATGGACGCCTTCATCAAGGCCATGAAGAAGGTTCTGAGCAGTGTGTCGGA CGAGATGCTAAAGGAGCTGTTTTTGAAGGTGGACTCGGACTGTGAAGGCTTTGTCACCTGGCAAAAGTATGTGGATTACATGATGCGTGA GTTCCAGGGAAAAGAGGACATGCGAAAGAGCCAGTACCGCCTGCACTTCTACCTTCCCATGACGGTCGTCCCCCTGAACCATGGCTGTGA GGTGGTGAAGGTGGTGTTTTTAATCCACCGGTTCAAGAAGATCGGGTGTTTCCTGACTGTCACCAAAGACGGGATCCTGCAGTTCTGGTC TGAGTCCTTCTCGCTGATGAGCTCCTTTAGGCTTAACCAGACCCAGCAGCTCTACAACCAGCCGATGTGGGTCATTGACATGGTATGTCT GCACAATATGAACCTCGTTGCAGTTGCGTCTACCAGGCAAAAGATAGATTTCTTTGATATTAGTGACCACAAATGTGTCCGGGCCTTCAC CTTTGTTGATCTGGACAGCTGTGCTCTGGTCATGGACTACTGGTCTGACTATCACAGAGGTGTGTTCTGCTATGGAGACGCCAAAGGCAA CGTCATTGTCTTCACCTCCGAAAACATGACCAGTGGGCTGTTCAACCCCCGTATCCTCCCCAGGGCCTCCAAGTGGGATCACTGGATCAA AGTTTCCTTGCAGAAACTCTTAAATGAGAAGTCTGCTTTGCATAGAAGCTACCGGCTGAAGACGGACCAGCAGGCTGAGGCCAGGTCCTA CCTCAGCGAAGAGATGATCGCTGAGTTCAAGGCTGCCTTTGACATGTTTGATGCTGATGGTGGTGGGGACATCAGCGTCAAGGAGTTGGG CACGGTGATGAGGATGCTGGGCCAGACACCCACCAAGGAGGAGCTGGACGCCATCATCGAGGAGGTGGATGAGGACGGCAGCGGCACCAT CGACTTCGAGGAGTTCTTGGTCATGATGGTGCGCCAGATGAAAGAGGACGCGAAAGGGAAGAGCGAGGAGGAGCTGGCCGAGTGCTTCCG CATCTTCGACAGGAATGCAGACGGCTACATCGACCCGGAGGAGCTGGCTGAGATTTTCAGGGCCTCCGGGGAGCACGTGACGGACGAGGA GATCGAATCTCTGATGAAAGACGGCGACAAGAACAACGACGGCCGCATTGACTTCGACGAGTTCCTGAAGATGATGGAGGGCGTGCAGTA AGGAGTGGACAGTCGCCTCTACCAAGATCGCGTGTCCCTAGGGTGTGGGAGACTCCGCCCTGCCGGGTCCCCACCAGGGAGGCGCGACCC |
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FusionGenePPI for EFCAB8_TNNC2 |
| 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 |
| EFCAB8 | TNNC2 | TNNI3, NOSIP, PIK3R3, KCNAB2 |
| - 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 EFCAB8_TNNC2 |
| 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 |
| Tgene | TNNC2 | P02585 | DB01023 | Felodipine | Troponin C, skeletal muscle | small molecule | approved|investigational |
| Tgene | TNNC2 | P02585 | DB01373 | Calcium | Troponin C, skeletal muscle | small molecule | approved|nutraceutical |
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RelatedDiseases for EFCAB8_TNNC2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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