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Fusion gene ID: 604 |
FusionGeneSummary for ACTN4_SPINT2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACTN4_SPINT2 | Fusion gene ID: 604 | Hgene | Tgene | Gene symbol | ACTN4 | SPINT2 | Gene ID | 81 | 10653 |
| Gene name | actinin alpha 4 | serine peptidase inhibitor, Kunitz type 2 | |
| Synonyms | ACTININ-4|FSGS|FSGS1 | DIAR3|HAI-2|HAI2|Kop|PB | |
| Cytomap | 19q13.2 | 19q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | alpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4 | kunitz-type protease inhibitor 2hepatocyte growth factor activator inhibitor type 2serine protease inhibitor, Kunitz type, 2testicular tissue protein Li 183 | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | O43707 | O43291 | |
| Ensembl transtripts involved in fusion gene | ENST00000252699, ENST00000424234, ENST00000390009, ENST00000497637, | ENST00000301244, ENST00000587090, ENST00000454580, | |
| Fusion gene scores | * DoF score | 28 X 17 X 13=6188 | 8 X 2 X 7=112 |
| # samples | 30 | 8 | |
| ** MAII score | log2(30/6188*10)=-4.36643879095316 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/112*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ACTN4 [Title/Abstract] AND SPINT2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | ACTN4 | GO:0035357 | peroxisome proliferator activated receptor signaling pathway | 22351778 |
| Hgene | ACTN4 | GO:0048384 | retinoic acid receptor signaling pathway | 22351778 |
| Hgene | ACTN4 | GO:0051272 | positive regulation of cellular component movement | 9508771 |
| Tgene | SPINT2 | GO:0022408 | negative regulation of cell-cell adhesion | 19592578 |
| Tgene | SPINT2 | GO:2000146 | negative regulation of cell motility | 19592578 |
| 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 | UCS | TCGA-N8-A56S-01A | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
| * 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 | ENST00000252699 | ENST00000301244 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-5UTR | ENST00000252699 | ENST00000587090 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-intron | ENST00000252699 | ENST00000454580 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
| intron-3CDS | ENST00000424234 | ENST00000301244 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
| intron-5UTR | ENST00000424234 | ENST00000587090 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
| intron-intron | ENST00000424234 | ENST00000454580 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
| In-frame | ENST00000390009 | ENST00000301244 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-5UTR | ENST00000390009 | ENST00000587090 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
| 5CDS-intron | ENST00000390009 | ENST00000454580 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
| intron-3CDS | ENST00000497637 | ENST00000301244 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
| intron-5UTR | ENST00000497637 | ENST00000587090 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
| intron-intron | ENST00000497637 | ENST00000454580 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
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FusionProtFeatures for ACTN4_SPINT2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACTN4 | SPINT2 |
| F-actin cross-linking protein which is thought to anchoractin to a variety of intracellular structures. This is a bundlingprotein (Probable). Probably involved in vesicular trafficking viaits association with the CART complex. The CART complex isnecessary for efficient transferrin receptor recycling but not forEGFR degradation (PubMed:15772161). Involved in tight junctionassembly in epithelial cells probably through interaction withMICALL2. Links MICALL2 to the actin cytoskeleton and recruits itto the tight junctions (By similarity). May also function as atranscriptional coactivator, stimulating transcription mediated bythe nuclear hormone receptors PPARG and RARA (PubMed:22351778).{ECO:0000250|UniProtKB:P57780, ECO:0000269|PubMed:15772161,ECO:0000269|PubMed:22351778, ECO:0000305|PubMed:9508771}. | Inhibitor of HGF activator. Also inhibits plasmin,plasma and tissue kallikrein, and factor XIa. |
| 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 | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 19_26 | 430 | 912 | Compositional bias | Poly-Gly |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 19_26 | 211 | 693 | Compositional bias | Poly-Gly |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 163_269 | 430 | 912 | Domain | Calponin-homology (CH) 2 |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 50_154 | 430 | 912 | Domain | Calponin-homology (CH) 1 |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 50_154 | 211 | 693 | Domain | Calponin-homology (CH) 1 |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 84_88 | 430 | 912 | Motif | LXXLL motif |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 84_88 | 211 | 693 | Motif | LXXLL motif |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 177_192 | 430 | 912 | Region | Polyphosphoinositide (PIP2)-binding |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 1_269 | 430 | 912 | Region | Note=Actin-binding |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 177_192 | 211 | 693 | Region | Polyphosphoinositide (PIP2)-binding |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 293_403 | 430 | 912 | Repeat | Spectrin 1 |
| Tgene | >SPINT2 | chr19:39208714 | chr19:38774267 | ENST00000301244 | + | 0 | 7 | 219_252 | 35 | 253 | Topological domain | Cytoplasmic |
| Tgene | >SPINT2 | chr19:39208714 | chr19:38774267 | ENST00000454580 | + | 0 | 6 | 219_252 | -106 | 196 | Topological domain | Cytoplasmic |
| Tgene | >SPINT2 | chr19:39208714 | chr19:38774267 | ENST00000454580 | + | 0 | 6 | 28_197 | -106 | 196 | Topological domain | Extracellular |
| Tgene | >SPINT2 | chr19:39208714 | chr19:38774267 | ENST00000301244 | + | 0 | 7 | 198_218 | 35 | 253 | Transmembrane | Helical |
| Tgene | >SPINT2 | chr19:39208714 | chr19:38774267 | ENST00000454580 | + | 0 | 6 | 198_218 | -106 | 196 | 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 | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 778_789 | 430 | 912 | Calcium binding | 1 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 819_830 | 430 | 912 | Calcium binding | 2 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 778_789 | 211 | 693 | Calcium binding | 1 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 819_830 | 211 | 693 | Calcium binding | 2 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 765_800 | 430 | 912 | Domain | EF-hand 1 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 806_841 | 430 | 912 | Domain | EF-hand 2 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 163_269 | 211 | 693 | Domain | Calponin-homology (CH) 2 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 765_800 | 211 | 693 | Domain | EF-hand 1 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 806_841 | 211 | 693 | Domain | EF-hand 2 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 1_269 | 211 | 693 | Region | Note=Actin-binding |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 413_518 | 430 | 912 | Repeat | Spectrin 2 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 528_639 | 430 | 912 | Repeat | Spectrin 3 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 649_752 | 430 | 912 | Repeat | Spectrin 4 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 293_403 | 211 | 693 | Repeat | Spectrin 1 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 413_518 | 211 | 693 | Repeat | Spectrin 2 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 528_639 | 211 | 693 | Repeat | Spectrin 3 |
| Hgene | >ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 649_752 | 211 | 693 | Repeat | Spectrin 4 |
| Tgene | SPINT2 | chr19:39208714 | chr19:38774267 | ENST00000301244 | + | 0 | 7 | 28_197 | 35 | 253 | Topological domain | Extracellular |
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FusionGeneSequence for ACTN4_SPINT2 |
| 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_ACTN4_ENST00000252699_chr19_39208714_+_SPINT2_ENST00000301244_chr19_38774267_+_648aa MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEV ISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSG AQKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTL QTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDDFCLVSKVVGRCRASMPRWW YNVTDGSCQLFVYGGCDGNSNNYLTKEECLKKCATVTENATGDLATSRNAADSSVPSAPRRQDSEDHSSDMFNYEEYCTANAVTGPCRAS FPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACMLRCFRQQENPPLPLGSKVVVLAGLFVMVLILFLGASMVYLIRVARRNQERALRTV >In-frame_ACTN4_ENST00000390009_chr19_39208714_+_SPINT2_ENST00000301244_chr19_38774267_+_429aa MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWI RRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEE WLLNEIRRLERLDHLAEKFRQKASIHEAWTDDFCLVSKVVGRCRASMPRWWYNVTDGSCQLFVYGGCDGNSNNYLTKEECLKKCATVTEN ATGDLATSRNAADSSVPSAPRRQDSEDHSSDMFNYEEYCTANAVTGPCRASFPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACMLRCF |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ACTN4_ENST00000252699_chr19_39208714_+_SPINT2_ENST00000301244_chr19_38774267_+_1944nt ATGGTGGACTACCACGCGGCGAACCAGTCGTACCAGTACGGCCCCAGCAGCGCGGGCAATGGCGCTGGCGGCGGGGGCAGCATGGGCGAC TACATGGCCCAGGAGGACGACTGGGACCGGGACCTGCTGCTGGACCCGGCCTGGGAGAAGCAGCAGCGCAAGACCTTCACGGCATGGTGC AACTCCCACCTGCGGAAGGCAGGCACACAGATCGAGAACATTGATGAGGACTTCCGAGACGGGCTCAAGCTCATGCTGCTCCTGGAGGTC ATATCAGGGGAGCGGTTACCTAAGCCGGAGCGGGGGAAGATGAGAGTGCACAAAATCAACAATGTGAACAAAGCGCTGGACTTTATTGCC AGCAAAGGCGTCAAGCTGGTCTCCATCGGGGCAGAAGAGATTGTGGACGGCAACGCAAAGATGACCCTGGGAATGATCTGGACCATCATC CTTAGGTTCGCCATCCAGGACATCTCCGTGGAAGAGACCTCGGCCAAGGAAGGGCTCCTTCTCTGGTGCCAGAGAAAGACAGCCCCGTAT AAGAACGTCAATGTGCAGAACTTCCACATCAGCTGGAAGGATGGTCTTGCCTTCAATGCCCTGATCCACCGGCACAGACCAGAGCTGATT GAGTATGACAAGCTGAGGAAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATG CTGGATGCAGAGGACATCGTGAACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTGTCCAGCTTCTACCATGCCTTTTCAGGA GCGCAGAAGGCTGAAACTGCCGCCAACCGGATCTGTAAGGTGCTGGCTGTCAACCAAGAGAACGAGCACCTGATGGAGGACTACGAGAAG CTGGCCAGCGACCTCCTGGAGTGGATCCGGCGCACCATCCCCTGGCTGGAGGACCGTGTGCCCCAAAAGACTATCCAGGAGATGCAGCAG AAGCTGGAGGACTTCCGCGACTACCGGCGTGTGCACAAGCCGCCCAAGGTGCAGGAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTG CAGACCAAGCTGCGCCTCAGCAACCGGCCCGCCTTCATGCCCTCCGAGGGCAAGATGGTCTCGGACATCAACAATGGCTGGCAGCACTTG GAGCAGGCTGAGAAGGGCTACGAGGAGTGGCTGCTGAATGAGATCCGCAGGCTGGAGCGGCTCGACCACCTGGCAGAGAAGTTCCGGCAG AAGGCCTCCATCCACGAGGCCTGGACTGACGACTTCTGCCTGGTGTCGAAGGTGGTGGGCAGATGCCGGGCCTCCATGCCTAGGTGGTGG TACAATGTCACTGACGGATCCTGCCAGCTGTTTGTGTATGGGGGCTGTGACGGAAACAGCAATAATTACCTGACCAAGGAGGAGTGCCTC AAGAAATGTGCCACTGTCACAGAGAATGCCACGGGTGACCTGGCCACCAGCAGGAATGCAGCGGATTCCTCTGTCCCAAGTGCTCCCAGA AGGCAGGATTCTGAAGACCACTCCAGCGATATGTTCAACTATGAAGAATACTGCACCGCCAACGCAGTCACTGGGCCTTGCCGTGCATCC TTCCCACGCTGGTACTTTGACGTGGAGAGGAACTCCTGCAATAACTTCATCTATGGAGGCTGCCGGGGCAATAAGAACAGCTACCGCTCT GAGGAGGCCTGCATGCTCCGCTGCTTCCGCCAGCAGGAGAATCCTCCCCTGCCCCTTGGCTCAAAGGTGGTGGTTCTGGCGGGGCTGTTC GTGATGGTGTTGATCCTCTTCCTGGGAGCCTCCATGGTCTACCTGATCCGGGTGGCACGGAGGAACCAGGAGCGTGCCCTGCGCACCGTC >In-frame_ACTN4_ENST00000390009_chr19_39208714_+_SPINT2_ENST00000301244_chr19_38774267_+_1287nt ATGGTGGACTACCACGCGGCGAACCAGTCGTACCAGTACGGCCCCAGCAGCGCGGGCAATGGCGCTGGCGGCGGGGGCAGCATGGGCGAC TACATGGCCCAGGAGGACGACTGGGACCGGGACCTGCTGCTGGACCCGGCCTGGGAGAAGCAGCAGCGCAAGGCTGAAACTGCCGCCAAC CGGATCTGTAAGGTGCTGGCTGTCAACCAAGAGAACGAGCACCTGATGGAGGACTACGAGAAGCTGGCCAGCGACCTCCTGGAGTGGATC CGGCGCACCATCCCCTGGCTGGAGGACCGTGTGCCCCAAAAGACTATCCAGGAGATGCAGCAGAAGCTGGAGGACTTCCGCGACTACCGG CGTGTGCACAAGCCGCCCAAGGTGCAGGAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGCCTCAGCAACCGG CCCGCCTTCATGCCCTCCGAGGGCAAGATGGTCTCGGACATCAACAATGGCTGGCAGCACTTGGAGCAGGCTGAGAAGGGCTACGAGGAG TGGCTGCTGAATGAGATCCGCAGGCTGGAGCGGCTCGACCACCTGGCAGAGAAGTTCCGGCAGAAGGCCTCCATCCACGAGGCCTGGACT GACGACTTCTGCCTGGTGTCGAAGGTGGTGGGCAGATGCCGGGCCTCCATGCCTAGGTGGTGGTACAATGTCACTGACGGATCCTGCCAG CTGTTTGTGTATGGGGGCTGTGACGGAAACAGCAATAATTACCTGACCAAGGAGGAGTGCCTCAAGAAATGTGCCACTGTCACAGAGAAT GCCACGGGTGACCTGGCCACCAGCAGGAATGCAGCGGATTCCTCTGTCCCAAGTGCTCCCAGAAGGCAGGATTCTGAAGACCACTCCAGC GATATGTTCAACTATGAAGAATACTGCACCGCCAACGCAGTCACTGGGCCTTGCCGTGCATCCTTCCCACGCTGGTACTTTGACGTGGAG AGGAACTCCTGCAATAACTTCATCTATGGAGGCTGCCGGGGCAATAAGAACAGCTACCGCTCTGAGGAGGCCTGCATGCTCCGCTGCTTC CGCCAGCAGGAGAATCCTCCCCTGCCCCTTGGCTCAAAGGTGGTGGTTCTGGCGGGGCTGTTCGTGATGGTGTTGATCCTCTTCCTGGGA GCCTCCATGGTCTACCTGATCCGGGTGGCACGGAGGAACCAGGAGCGTGCCCTGCGCACCGTCTGGAGCTCCGGAGATGACAAGGAGCAG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ACTN4_ENST00000252699_chr19_39208714_+_SPINT2_ENST00000301244_chr19_38774267_+_2628nt GCGGCGGCGGCTCGGGCAGAGGGGCGGGAGCTGAGGCGGGAGCGGACAGGCTGGTGGGCGAGCGAGAGGCGGCGGAATGGTGGACTACCA CGCGGCGAACCAGTCGTACCAGTACGGCCCCAGCAGCGCGGGCAATGGCGCTGGCGGCGGGGGCAGCATGGGCGACTACATGGCCCAGGA GGACGACTGGGACCGGGACCTGCTGCTGGACCCGGCCTGGGAGAAGCAGCAGCGCAAGACCTTCACGGCATGGTGCAACTCCCACCTGCG GAAGGCAGGCACACAGATCGAGAACATTGATGAGGACTTCCGAGACGGGCTCAAGCTCATGCTGCTCCTGGAGGTCATATCAGGGGAGCG GTTACCTAAGCCGGAGCGGGGGAAGATGAGAGTGCACAAAATCAACAATGTGAACAAAGCGCTGGACTTTATTGCCAGCAAAGGCGTCAA GCTGGTCTCCATCGGGGCAGAAGAGATTGTGGACGGCAACGCAAAGATGACCCTGGGAATGATCTGGACCATCATCCTTAGGTTCGCCAT CCAGGACATCTCCGTGGAAGAGACCTCGGCCAAGGAAGGGCTCCTTCTCTGGTGCCAGAGAAAGACAGCCCCGTATAAGAACGTCAATGT GCAGAACTTCCACATCAGCTGGAAGGATGGTCTTGCCTTCAATGCCCTGATCCACCGGCACAGACCAGAGCTGATTGAGTATGACAAGCT GAGGAAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGA CATCGTGAACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTGTCCAGCTTCTACCATGCCTTTTCAGGAGCGCAGAAGGCTGA AACTGCCGCCAACCGGATCTGTAAGGTGCTGGCTGTCAACCAAGAGAACGAGCACCTGATGGAGGACTACGAGAAGCTGGCCAGCGACCT CCTGGAGTGGATCCGGCGCACCATCCCCTGGCTGGAGGACCGTGTGCCCCAAAAGACTATCCAGGAGATGCAGCAGAAGCTGGAGGACTT CCGCGACTACCGGCGTGTGCACAAGCCGCCCAAGGTGCAGGAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCG CCTCAGCAACCGGCCCGCCTTCATGCCCTCCGAGGGCAAGATGGTCTCGGACATCAACAATGGCTGGCAGCACTTGGAGCAGGCTGAGAA GGGCTACGAGGAGTGGCTGCTGAATGAGATCCGCAGGCTGGAGCGGCTCGACCACCTGGCAGAGAAGTTCCGGCAGAAGGCCTCCATCCA CGAGGCCTGGACTGACGACTTCTGCCTGGTGTCGAAGGTGGTGGGCAGATGCCGGGCCTCCATGCCTAGGTGGTGGTACAATGTCACTGA CGGATCCTGCCAGCTGTTTGTGTATGGGGGCTGTGACGGAAACAGCAATAATTACCTGACCAAGGAGGAGTGCCTCAAGAAATGTGCCAC TGTCACAGAGAATGCCACGGGTGACCTGGCCACCAGCAGGAATGCAGCGGATTCCTCTGTCCCAAGTGCTCCCAGAAGGCAGGATTCTGA AGACCACTCCAGCGATATGTTCAACTATGAAGAATACTGCACCGCCAACGCAGTCACTGGGCCTTGCCGTGCATCCTTCCCACGCTGGTA CTTTGACGTGGAGAGGAACTCCTGCAATAACTTCATCTATGGAGGCTGCCGGGGCAATAAGAACAGCTACCGCTCTGAGGAGGCCTGCAT GCTCCGCTGCTTCCGCCAGCAGGAGAATCCTCCCCTGCCCCTTGGCTCAAAGGTGGTGGTTCTGGCGGGGCTGTTCGTGATGGTGTTGAT CCTCTTCCTGGGAGCCTCCATGGTCTACCTGATCCGGGTGGCACGGAGGAACCAGGAGCGTGCCCTGCGCACCGTCTGGAGCTCCGGAGA TGACAAGGAGCAGCTGGTGAAGAACACATATGTCCTGTGACCGCCCTGTCGCCAAGAGGACTGGGGAAGGGAGGGGAGACTATGTGTGAG CTTTTTTTAAATAGAGGGATTGACTCGGATTTGAGTGATCATTAGGGCTGAGGTCTGTTTCTCTGGGAGGTAGGACGGCTGCTTCCTGGT CTGGCAGGGATGGGTTTGCTTTGGAAATCCTCTAGGAGGCTCCTCCTCGCATGGCCTGCAGTCTGGCAGCAGCCCCGAGTTGTTTCCTCG CTGATCGATTTCTTTCCTCCAGGTAGAGTTTTCTTTGCTTATGTTGAATTCCATTGCCTCTTTTCTCATCACAGAAGTGATGTTGGAATC GTTTCTTTTGTTTGTCTGATTTATGGTTTTTTTAAGTATAAACAAAAGTTTTTTATTAGCATTCTGAAAGAAGGAAAGTAAAATGTACAA GTTTAATAAAAAGGGGCCTTCCCCTTTAGAATAAATTTCAGCATGTGCTTTCTTTATGGGAGTCCTAATTTCAACCCTACCAAAATGATC ACAAGACACTATCTGAGGTGTCCCATTCTAGAAATAGACCCCTCAAAATAGCGTCTTTCAGATCTTTTTGAATGAATCCACAAGATGAAA >In-frame_ACTN4_ENST00000390009_chr19_39208714_+_SPINT2_ENST00000301244_chr19_38774267_+_1903nt GCGGCGGAATGGTGGACTACCACGCGGCGAACCAGTCGTACCAGTACGGCCCCAGCAGCGCGGGCAATGGCGCTGGCGGCGGGGGCAGCA TGGGCGACTACATGGCCCAGGAGGACGACTGGGACCGGGACCTGCTGCTGGACCCGGCCTGGGAGAAGCAGCAGCGCAAGGCTGAAACTG CCGCCAACCGGATCTGTAAGGTGCTGGCTGTCAACCAAGAGAACGAGCACCTGATGGAGGACTACGAGAAGCTGGCCAGCGACCTCCTGG AGTGGATCCGGCGCACCATCCCCTGGCTGGAGGACCGTGTGCCCCAAAAGACTATCCAGGAGATGCAGCAGAAGCTGGAGGACTTCCGCG ACTACCGGCGTGTGCACAAGCCGCCCAAGGTGCAGGAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGCCTCA GCAACCGGCCCGCCTTCATGCCCTCCGAGGGCAAGATGGTCTCGGACATCAACAATGGCTGGCAGCACTTGGAGCAGGCTGAGAAGGGCT ACGAGGAGTGGCTGCTGAATGAGATCCGCAGGCTGGAGCGGCTCGACCACCTGGCAGAGAAGTTCCGGCAGAAGGCCTCCATCCACGAGG CCTGGACTGACGACTTCTGCCTGGTGTCGAAGGTGGTGGGCAGATGCCGGGCCTCCATGCCTAGGTGGTGGTACAATGTCACTGACGGAT CCTGCCAGCTGTTTGTGTATGGGGGCTGTGACGGAAACAGCAATAATTACCTGACCAAGGAGGAGTGCCTCAAGAAATGTGCCACTGTCA CAGAGAATGCCACGGGTGACCTGGCCACCAGCAGGAATGCAGCGGATTCCTCTGTCCCAAGTGCTCCCAGAAGGCAGGATTCTGAAGACC ACTCCAGCGATATGTTCAACTATGAAGAATACTGCACCGCCAACGCAGTCACTGGGCCTTGCCGTGCATCCTTCCCACGCTGGTACTTTG ACGTGGAGAGGAACTCCTGCAATAACTTCATCTATGGAGGCTGCCGGGGCAATAAGAACAGCTACCGCTCTGAGGAGGCCTGCATGCTCC GCTGCTTCCGCCAGCAGGAGAATCCTCCCCTGCCCCTTGGCTCAAAGGTGGTGGTTCTGGCGGGGCTGTTCGTGATGGTGTTGATCCTCT TCCTGGGAGCCTCCATGGTCTACCTGATCCGGGTGGCACGGAGGAACCAGGAGCGTGCCCTGCGCACCGTCTGGAGCTCCGGAGATGACA AGGAGCAGCTGGTGAAGAACACATATGTCCTGTGACCGCCCTGTCGCCAAGAGGACTGGGGAAGGGAGGGGAGACTATGTGTGAGCTTTT TTTAAATAGAGGGATTGACTCGGATTTGAGTGATCATTAGGGCTGAGGTCTGTTTCTCTGGGAGGTAGGACGGCTGCTTCCTGGTCTGGC AGGGATGGGTTTGCTTTGGAAATCCTCTAGGAGGCTCCTCCTCGCATGGCCTGCAGTCTGGCAGCAGCCCCGAGTTGTTTCCTCGCTGAT CGATTTCTTTCCTCCAGGTAGAGTTTTCTTTGCTTATGTTGAATTCCATTGCCTCTTTTCTCATCACAGAAGTGATGTTGGAATCGTTTC TTTTGTTTGTCTGATTTATGGTTTTTTTAAGTATAAACAAAAGTTTTTTATTAGCATTCTGAAAGAAGGAAAGTAAAATGTACAAGTTTA ATAAAAAGGGGCCTTCCCCTTTAGAATAAATTTCAGCATGTGCTTTCTTTATGGGAGTCCTAATTTCAACCCTACCAAAATGATCACAAG ACACTATCTGAGGTGTCCCATTCTAGAAATAGACCCCTCAAAATAGCGTCTTTCAGATCTTTTTGAATGAATCCACAAGATGAAATAAAT |
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FusionGenePPI for ACTN4_SPINT2 |
| 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 |
| ACTN4 | MYOZ2, MYOZ1, PDLIM1, USP6NL, SLC9A3R2, COL17A1, TRIM3, MAGI1, GSN, CAMK2A, CAMK2B, INO80, UBTF, STAT1, HDAC7, MEF2A, UCHL5, TJP1, ATXN7, HDAC5, VDR, ESR1, PSMA3, ELAVL1, SIRT7, SLC2A4, ISG15, COIL, SACS, HGS, UBASH3B, SHC1, NOS3, ACTN2, ACTN1, FMNL1, TRAF3IP1, FN1, VCAM1, CDH1, ITGA4, SVIL, CD81, IGSF8, ICAM1, TXN, RPS27, POT1, KPNA2, MAPK7, CDKN2A, VCP, SF3A3, GNB2, HUWE1, ACTN3, BMP7, ALK, CUL7, OBSL1, CCDC8, EGFR, LUZP4, RARA, HSPB1, AHNAK, ALDOA, ALDOC, IDH3A, MYH15, MYH2, MYH7B, NCAPG2, PSMA6, PSMB5, PUS7, TPM2, TSG101, CKB, CYC1, ECSIT, MCFD2, PSMB8, TPM1, TPM3, TPM4, NTRK1, CAPZA2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, IQGAP1, PDLIM7, SYNPO, MAPRE1, SIN3B, MYEF2, LIMA1, ANLN, MYO5C, MYO19, MYO18A, CTNNB1, MCM2, NFYA, CDC73, DDIAS, SSH1, NCL, DLD, DNM1L, PDHA1, SOD1, TRIM25, TES | SPINT2 | ITIH2, APP, TUBG1, MOV10, CUL7, ILK, TUBGCP2, LSR, ATP12A, LIN54, TBC1D9B, TBC1D15, ATP2A3, ITPRIPL1, FNDC3A, ZNF696, OCRL, ABCA3, RPS7, TMEM214, NCAPD3, SREBF2, THAP11, IQCB1, TSC2, WDR44, LEMD3, POM121, UBR3, TBL2, ATP8B2, DIP2A, NFRKB, SACM1L, ZDHHC13, RETSAT, DHRS7, SPTLC2, ARFGEF1, CCZ1, ACVR1B, CYP51A1, PRR14, LRIF1, MAP7D3, CDC20, TYW1, C20orf24, SMC2, DNAJC16, MOSPD2, BAG3, KIF14, EPHX1, TAF6L, ALG5, NOP9, OSBPL8, NUS1, SLC35F5, TEX264, CKAP5, TMUB1, POLE2, HMGCR, UPK3BL, FNDC3B, VRK2, MZT2B, SLC39A10, SEC22A, ELF2, SLC39A6, C1orf112, USP33, NDC1, SLC30A7, LMF1, GOLGA5, GTPBP3, DAGLB, VANGL2, FAM189B, DPH1, FRMD5, CHD8, PI4K2B, SLC27A3, CMTM6, EGFL7, PKMYT1, LRP10, CNTNAP1, ZDHHC18, CTU1, TIGD5, KLHL26, LRP12, ASPHD2, SCARF2, HGFAC, RNF13, MARC1, GPN3, ARL6IP6 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 108_126 | 430 | 912 | VCL |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 12_26 | 430 | 912 | VCL |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 40_61 | 430 | 912 | VCL |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 108_126 | 211 | 693 | VCL |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 12_26 | 211 | 693 | VCL |
| Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 40_61 | 211 | 693 | VCL |
| - 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 ACTN4_SPINT2 |
| 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 ACTN4_SPINT2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ACTN4 | C0333497 | Segmental glomerulosclerosis | 3 | UNIPROT |
| Hgene | ACTN4 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | ACTN4 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Tgene | SPINT2 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | SPINT2 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Tgene | SPINT2 | C0027794 | Neural Tube Defects | 1 | CTD_human |
| Tgene | SPINT2 | C0032045 | Placenta Disorders | 1 | CTD_human |
| Tgene | SPINT2 | C0267663 | Congenital secretory diarrhea, sodium type (disorder) | 1 | CTD_human;ORPHANET;UNIPROT |
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