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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ACTN4-SPINT2 (FusionGDB2 ID:HG81TG10653) |
Fusion Gene Summary for ACTN4-SPINT2 |
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Fusion gene information | Fusion gene name: ACTN4-SPINT2 | Fusion gene ID: hg81tg10653 | 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 | ('ACTN4')('SPINT2') 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 | 20200327 | 20200315 | |
UniProtAcc | O43707 | . | |
Ensembl transtripts involved in fusion gene | ENST00000252699, ENST00000390009, ENST00000424234, ENST00000497637, | ENST00000390009, ENST00000497637, ENST00000252699, ENST00000424234, | |
Fusion gene scores | * DoF score | 42 X 60 X 18=45360 | 11 X 6 X 8=528 |
# samples | 77 | 13 | |
** MAII score | log2(77/45360*10)=-5.88041838424733 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/528*10)=-2.02202630633 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] | ||
Most frequent breakpoint | ACTN4(39208714)-SPINT2(38774267), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | ACTN4-SPINT2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ACTN4-SPINT2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ACTN4-SPINT2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ACTN4-SPINT2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. SPINT2-ACTN4 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. SPINT2-ACTN4 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ACTN4 | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 25411248 |
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 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | UCS | TCGA-N8-A56S-01A | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
ChimerDB4 | UCS | TCGA-N8-A56S | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
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Fusion Gene ORF analysis for ACTN4-SPINT2 |
![]() * 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 |
5CDS-5UTR | ENST00000252699 | ENST00000587090 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
5CDS-5UTR | ENST00000390009 | ENST00000587090 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
5CDS-intron | ENST00000252699 | ENST00000454580 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
5CDS-intron | ENST00000390009 | ENST00000454580 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
In-frame | ENST00000252699 | ENST00000301244 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
In-frame | ENST00000390009 | ENST00000301244 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
intron-3CDS | ENST00000424234 | ENST00000301244 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
intron-3CDS | ENST00000497637 | ENST00000301244 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
intron-5UTR | ENST00000424234 | ENST00000587090 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
intron-5UTR | ENST00000497637 | ENST00000587090 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
intron-intron | ENST00000424234 | ENST00000454580 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
intron-intron | ENST00000497637 | ENST00000454580 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000252699 | ACTN4 | chr19 | 39208714 | + | ENST00000301244 | SPINT2 | chr19 | 38774267 | + | 2628 | 1367 | 76 | 2019 | 647 |
ENST00000390009 | ACTN4 | chr19 | 39208714 | + | ENST00000301244 | SPINT2 | chr19 | 38774267 | + | 1903 | 642 | 8 | 1294 | 428 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000252699 | ENST00000301244 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + | 0.013842542 | 0.9861574 |
ENST00000390009 | ENST00000301244 | ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774267 | + | 0.005631338 | 0.9943686 |
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Fusion Genomic Features for ACTN4-SPINT2 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774266 | + | 1.40E-06 | 0.99999857 |
ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774266 | + | 1.40E-06 | 0.99999857 |
ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774266 | + | 1.40E-06 | 0.99999857 |
ACTN4 | chr19 | 39208714 | + | SPINT2 | chr19 | 38774266 | + | 1.40E-06 | 0.99999857 |
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Fusion Protein Features for ACTN4-SPINT2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:39208714/chr19:38774267) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
ACTN4 | . |
FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778). {ECO:0000250|UniProtKB:P57780, ECO:0000269|PubMed:15772161, ECO:0000269|PubMed:22351778, ECO:0000305|PubMed:9508771}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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 | 912.0 | Compositional bias | Poly-Gly |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 19_26 | 211 | 693.0 | Compositional bias | Poly-Gly |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 163_269 | 430 | 912.0 | Domain | Calponin-homology (CH) 2 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 50_154 | 430 | 912.0 | Domain | Calponin-homology (CH) 1 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 50_154 | 211 | 693.0 | Domain | Calponin-homology (CH) 1 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 84_88 | 430 | 912.0 | Motif | LXXLL motif |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 84_88 | 211 | 693.0 | Motif | LXXLL motif |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 177_192 | 430 | 912.0 | Region | Polyphosphoinositide (PIP2)-binding |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 1_269 | 430 | 912.0 | Region | Note=Actin-binding |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 177_192 | 211 | 693.0 | Region | Polyphosphoinositide (PIP2)-binding |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 293_403 | 430 | 912.0 | Repeat | Spectrin 1 |
Tgene | SPINT2 | chr19:39208714 | chr19:38774267 | ENST00000301244 | 0 | 7 | 219_252 | 35 | 253.0 | Topological domain | Cytoplasmic | |
Tgene | SPINT2 | chr19:39208714 | chr19:38774267 | ENST00000454580 | 0 | 6 | 219_252 | 0 | 196.0 | Topological domain | Cytoplasmic | |
Tgene | SPINT2 | chr19:39208714 | chr19:38774267 | ENST00000454580 | 0 | 6 | 28_197 | 0 | 196.0 | Topological domain | Extracellular | |
Tgene | SPINT2 | chr19:39208714 | chr19:38774267 | ENST00000301244 | 0 | 7 | 198_218 | 35 | 253.0 | Transmembrane | Helical | |
Tgene | SPINT2 | chr19:39208714 | chr19:38774267 | ENST00000454580 | 0 | 6 | 198_218 | 0 | 196.0 | 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 | 912.0 | Calcium binding | 1 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 819_830 | 430 | 912.0 | Calcium binding | 2 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 778_789 | 211 | 693.0 | Calcium binding | 1 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 819_830 | 211 | 693.0 | Calcium binding | 2 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 765_800 | 430 | 912.0 | Domain | EF-hand 1 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 806_841 | 430 | 912.0 | Domain | EF-hand 2 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 163_269 | 211 | 693.0 | Domain | Calponin-homology (CH) 2 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 765_800 | 211 | 693.0 | Domain | EF-hand 1 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 806_841 | 211 | 693.0 | Domain | EF-hand 2 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 1_269 | 211 | 693.0 | Region | Note=Actin-binding |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 413_518 | 430 | 912.0 | Repeat | Spectrin 2 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 528_639 | 430 | 912.0 | Repeat | Spectrin 3 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 649_752 | 430 | 912.0 | Repeat | Spectrin 4 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 293_403 | 211 | 693.0 | Repeat | Spectrin 1 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 413_518 | 211 | 693.0 | Repeat | Spectrin 2 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 528_639 | 211 | 693.0 | Repeat | Spectrin 3 |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 649_752 | 211 | 693.0 | Repeat | Spectrin 4 |
Tgene | SPINT2 | chr19:39208714 | chr19:38774267 | ENST00000301244 | 0 | 7 | 28_197 | 35 | 253.0 | Topological domain | Extracellular |
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Fusion Gene Sequence for ACTN4-SPINT2 |
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>1801_1801_1_ACTN4-SPINT2_ACTN4_chr19_39208714_ENST00000252699_SPINT2_chr19_38774267_ENST00000301244_length(transcript)=2628nt_BP=1367nt 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 >1801_1801_1_ACTN4-SPINT2_ACTN4_chr19_39208714_ENST00000252699_SPINT2_chr19_38774267_ENST00000301244_length(amino acids)=647AA_BP=430 MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEV ISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSG AQKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTL QTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDDFCLVSKVVGRCRASMPRWW YNVTDGSCQLFVYGGCDGNSNNYLTKEECLKKCATVTENATGDLATSRNAADSSVPSAPRRQDSEDHSSDMFNYEEYCTANAVTGPCRAS FPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACMLRCFRQQENPPLPLGSKVVVLAGLFVMVLILFLGASMVYLIRVARRNQERALRTV -------------------------------------------------------------- >1801_1801_2_ACTN4-SPINT2_ACTN4_chr19_39208714_ENST00000390009_SPINT2_chr19_38774267_ENST00000301244_length(transcript)=1903nt_BP=642nt GCGGCGGAATGGTGGACTACCACGCGGCGAACCAGTCGTACCAGTACGGCCCCAGCAGCGCGGGCAATGGCGCTGGCGGCGGGGGCAGCA TGGGCGACTACATGGCCCAGGAGGACGACTGGGACCGGGACCTGCTGCTGGACCCGGCCTGGGAGAAGCAGCAGCGCAAGGCTGAAACTG CCGCCAACCGGATCTGTAAGGTGCTGGCTGTCAACCAAGAGAACGAGCACCTGATGGAGGACTACGAGAAGCTGGCCAGCGACCTCCTGG AGTGGATCCGGCGCACCATCCCCTGGCTGGAGGACCGTGTGCCCCAAAAGACTATCCAGGAGATGCAGCAGAAGCTGGAGGACTTCCGCG ACTACCGGCGTGTGCACAAGCCGCCCAAGGTGCAGGAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGCCTCA GCAACCGGCCCGCCTTCATGCCCTCCGAGGGCAAGATGGTCTCGGACATCAACAATGGCTGGCAGCACTTGGAGCAGGCTGAGAAGGGCT ACGAGGAGTGGCTGCTGAATGAGATCCGCAGGCTGGAGCGGCTCGACCACCTGGCAGAGAAGTTCCGGCAGAAGGCCTCCATCCACGAGG CCTGGACTGACGACTTCTGCCTGGTGTCGAAGGTGGTGGGCAGATGCCGGGCCTCCATGCCTAGGTGGTGGTACAATGTCACTGACGGAT CCTGCCAGCTGTTTGTGTATGGGGGCTGTGACGGAAACAGCAATAATTACCTGACCAAGGAGGAGTGCCTCAAGAAATGTGCCACTGTCA CAGAGAATGCCACGGGTGACCTGGCCACCAGCAGGAATGCAGCGGATTCCTCTGTCCCAAGTGCTCCCAGAAGGCAGGATTCTGAAGACC ACTCCAGCGATATGTTCAACTATGAAGAATACTGCACCGCCAACGCAGTCACTGGGCCTTGCCGTGCATCCTTCCCACGCTGGTACTTTG ACGTGGAGAGGAACTCCTGCAATAACTTCATCTATGGAGGCTGCCGGGGCAATAAGAACAGCTACCGCTCTGAGGAGGCCTGCATGCTCC GCTGCTTCCGCCAGCAGGAGAATCCTCCCCTGCCCCTTGGCTCAAAGGTGGTGGTTCTGGCGGGGCTGTTCGTGATGGTGTTGATCCTCT TCCTGGGAGCCTCCATGGTCTACCTGATCCGGGTGGCACGGAGGAACCAGGAGCGTGCCCTGCGCACCGTCTGGAGCTCCGGAGATGACA AGGAGCAGCTGGTGAAGAACACATATGTCCTGTGACCGCCCTGTCGCCAAGAGGACTGGGGAAGGGAGGGGAGACTATGTGTGAGCTTTT TTTAAATAGAGGGATTGACTCGGATTTGAGTGATCATTAGGGCTGAGGTCTGTTTCTCTGGGAGGTAGGACGGCTGCTTCCTGGTCTGGC AGGGATGGGTTTGCTTTGGAAATCCTCTAGGAGGCTCCTCCTCGCATGGCCTGCAGTCTGGCAGCAGCCCCGAGTTGTTTCCTCGCTGAT CGATTTCTTTCCTCCAGGTAGAGTTTTCTTTGCTTATGTTGAATTCCATTGCCTCTTTTCTCATCACAGAAGTGATGTTGGAATCGTTTC TTTTGTTTGTCTGATTTATGGTTTTTTTAAGTATAAACAAAAGTTTTTTATTAGCATTCTGAAAGAAGGAAAGTAAAATGTACAAGTTTA ATAAAAAGGGGCCTTCCCCTTTAGAATAAATTTCAGCATGTGCTTTCTTTATGGGAGTCCTAATTTCAACCCTACCAAAATGATCACAAG ACACTATCTGAGGTGTCCCATTCTAGAAATAGACCCCTCAAAATAGCGTCTTTCAGATCTTTTTGAATGAATCCACAAGATGAAATAAAT >1801_1801_2_ACTN4-SPINT2_ACTN4_chr19_39208714_ENST00000390009_SPINT2_chr19_38774267_ENST00000301244_length(amino acids)=428AA_BP=211 MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWI RRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEE WLLNEIRRLERLDHLAEKFRQKASIHEAWTDDFCLVSKVVGRCRASMPRWWYNVTDGSCQLFVYGGCDGNSNNYLTKEECLKKCATVTEN ATGDLATSRNAADSSVPSAPRRQDSEDHSSDMFNYEEYCTANAVTGPCRASFPRWYFDVERNSCNNFIYGGCRGNKNSYRSEEACMLRCF -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for ACTN4-SPINT2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 | 430.3333333333333 | 912.0 | VCL |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 12_26 | 430.3333333333333 | 912.0 | VCL |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000252699 | + | 11 | 21 | 40_61 | 430.3333333333333 | 912.0 | VCL |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 108_126 | 211.33333333333334 | 693.0 | VCL |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 12_26 | 211.33333333333334 | 693.0 | VCL |
Hgene | ACTN4 | chr19:39208714 | chr19:38774267 | ENST00000390009 | + | 4 | 14 | 40_61 | 211.33333333333334 | 693.0 | VCL |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ACTN4-SPINT2 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ACTN4-SPINT2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ACTN4 | C4551527 | Focal segmental glomerulosclerosis 1 | 9 | GENOMICS_ENGLAND;UNIPROT |
Hgene | ACTN4 | C0007097 | Carcinoma | 1 | CTD_human |
Hgene | ACTN4 | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | ACTN4 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | ACTN4 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Hgene | ACTN4 | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
Hgene | ACTN4 | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
Hgene | ACTN4 | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
Hgene | ACTN4 | C0205699 | Carcinomatosis | 1 | CTD_human |
Hgene | ACTN4 | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | ACTN4 | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Hgene | ACTN4 | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | ACTN4 | C1868672 | NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE | 1 | ORPHANET |
Hgene | ACTN4 | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | ACTN4 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | ACTN4 | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Tgene | C0267663 | Congenital secretory diarrhea, sodium type (disorder) | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0007097 | Carcinoma | 1 | CTD_human | |
Tgene | C0011999 | Diastematomyelia | 1 | CTD_human | |
Tgene | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human | |
Tgene | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human | |
Tgene | C0027794 | Neural Tube Defects | 1 | CTD_human | |
Tgene | C0027806 | Neurenteric Cyst | 1 | CTD_human | |
Tgene | C0032045 | Placenta Disorders | 1 | CTD_human | |
Tgene | C0080218 | Tethered Cord Syndrome | 1 | CTD_human | |
Tgene | C0152234 | Iniencephaly | 1 | CTD_human | |
Tgene | C0152426 | Craniorachischisis | 1 | CTD_human | |
Tgene | C0152427 | Polydactyly | 1 | GENOMICS_ENGLAND | |
Tgene | C0155299 | Coloboma of optic disc | 1 | GENOMICS_ENGLAND | |
Tgene | C0205696 | Anaplastic carcinoma | 1 | CTD_human | |
Tgene | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human | |
Tgene | C0205698 | Undifferentiated carcinoma | 1 | CTD_human | |
Tgene | C0205699 | Carcinomatosis | 1 | CTD_human | |
Tgene | C0266453 | Exencephaly | 1 | CTD_human | |
Tgene | C0302246 | Hexadactyly | 1 | GENOMICS_ENGLAND | |
Tgene | C0344479 | Spinal Cord Myelodysplasia | 1 | CTD_human | |
Tgene | C0702169 | Acrania | 1 | CTD_human | |
Tgene | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human | |
Tgene | C4275062 | Intestinal epithelial dysplasia | 1 | GENOMICS_ENGLAND |