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Fusion Protein:CFTR-SEC23IP |
Fusion Gene and Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: CFTR-SEC23IP | FusionPDB ID: 16156 | FusionGDB2.0 ID: 16156 | Hgene | Tgene | Gene symbol | CFTR | SEC23IP | Gene ID | 1080 | 11196 |
Gene name | CF transmembrane conductance regulator | SEC23 interacting protein | |
Synonyms | ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1 | MSTP053|P125|P125A | |
Cytomap | 7q31.2 | 10q26.11-q26.12 | |
Type of gene | protein-coding | protein-coding | |
Description | cystic fibrosis transmembrane conductance regulatorcAMP-dependent chloride channelchannel conductance-controlling ATPasecystic fibrosis transmembrane conductance regulatingcystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-f | SEC23-interacting protein | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | P13569 Main function of 5'-partner protein: FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810). {ECO:0000269|PubMed:10792060, ECO:0000269|PubMed:11524016, ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:12403779, ECO:0000269|PubMed:12519745, ECO:0000269|PubMed:12529365, ECO:0000269|PubMed:12588899, ECO:0000269|PubMed:14668433, ECO:0000269|PubMed:15010471, ECO:0000269|PubMed:16645176, ECO:0000269|PubMed:17036051, ECO:0000269|PubMed:1712898, ECO:0000269|PubMed:17182731, ECO:0000269|PubMed:19019741, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:19621064, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:26627831, ECO:0000269|PubMed:26823428, ECO:0000269|PubMed:26846474, ECO:0000269|PubMed:27714810, ECO:0000269|PubMed:27941075, ECO:0000269|PubMed:28087700, ECO:0000269|PubMed:8910473, ECO:0000269|PubMed:9804160, ECO:0000305|PubMed:19923167}. | . | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000003084, ENST00000454343, ENST00000608965, | ENST00000475542, ENST00000369075, ENST00000543134, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 6 X 5 X 3=90 | 7 X 9 X 4=252 |
# samples | 6 | 7 | |
** MAII score | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/252*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Fusion gene context | PubMed: CFTR [Title/Abstract] AND SEC23IP [Title/Abstract] AND fusion [Title/Abstract] | ||
Fusion neoantigen context | PubMed: CFTR [Title/Abstract] AND SEC23IP [Title/Abstract] AND neoantigen [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CFTR(117199709)-SEC23IP(121685548), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | CFTR-SEC23IP 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. CFTR-SEC23IP 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. CFTR-SEC23IP 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. CFTR-SEC23IP 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. |
* 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 | CFTR | GO:0015701 | bicarbonate transport | 15010471|19019741 |
Hgene | CFTR | GO:0034976 | response to endoplasmic reticulum stress | 21884936|28067262 |
Hgene | CFTR | GO:1902476 | chloride transmembrane transport | 11524016|11707463|19019741 |
Hgene | CFTR | GO:1902943 | positive regulation of voltage-gated chloride channel activity | 22006324 |
Hgene | CFTR | GO:1904322 | cellular response to forskolin | 15010471|19621064 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr7:117199709/chr10:121685548) - 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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![]() * 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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Fusion Amino Acid Sequences |
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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) |
ENST00000003084 | CFTR | chr7 | 117199709 | + | ENST00000369075 | SEC23IP | chr10 | 121685548 | + | 4179 | 1716 | 87 | 2597 | 836 |
ENST00000003084 | CFTR | chr7 | 117199709 | + | ENST00000543134 | SEC23IP | chr10 | 121685548 | + | 2767 | 1716 | 87 | 2597 | 836 |
ENST00000454343 | CFTR | chr7 | 117199709 | + | ENST00000369075 | SEC23IP | chr10 | 121685548 | + | 3996 | 1533 | 87 | 2414 | 775 |
ENST00000454343 | CFTR | chr7 | 117199709 | + | ENST00000543134 | SEC23IP | chr10 | 121685548 | + | 2584 | 1533 | 87 | 2414 | 775 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000003084 | ENST00000369075 | CFTR | chr7 | 117199709 | + | SEC23IP | chr10 | 121685548 | + | 0.000426627 | 0.9995734 |
ENST00000003084 | ENST00000543134 | CFTR | chr7 | 117199709 | + | SEC23IP | chr10 | 121685548 | + | 0.000857176 | 0.99914277 |
ENST00000454343 | ENST00000369075 | CFTR | chr7 | 117199709 | + | SEC23IP | chr10 | 121685548 | + | 0.000571279 | 0.9994287 |
ENST00000454343 | ENST00000543134 | CFTR | chr7 | 117199709 | + | SEC23IP | chr10 | 121685548 | + | 0.001195157 | 0.9988048 |
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Get the fusion protein sequences from here. |
Fusion protein sequence information is available in the fasta format. >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP |
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Fusion Protein Breakpoint Sequences for CFTR-SEC23IP |
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Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Length(fusion protein) | BP in fusion protein | Peptide |
CFTR | chr7 | 117199709 | SEC23IP | chr10 | 121685548 | 1533 | 482 | RYRSVIKACQLEEKKAASEKKAVAAT |
CFTR | chr7 | 117199709 | SEC23IP | chr10 | 121685548 | 1716 | 543 | RYRSVIKACQLEEKKAASEKKAVAAT |
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Potential FusionNeoAntigen Information of CFTR-SEC23IP in HLA I |
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![]() * We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5) |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA I | FusionNeoAntigen peptide | Binding score | Immunogenic score | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
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Potential FusionNeoAntigen Information of CFTR-SEC23IP in HLA II |
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![]() * We used NetMHCIIpan v4.1 (%rank<0.5). |
Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA II | FusionNeoAntigen peptide | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
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Fusion breakpoint peptide structures of CFTR-SEC23IP |
![]() * The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA. |
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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of CFTR-SEC23IP |
![]() * We used Glide to predict the interaction between HLAs and neoantigens. |
HLA allele | PDB ID | File name | BPseq | Docking score | Glide score |
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Vaccine Design for the FusionNeoAntigens of CFTR-SEC23IP |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide sequence | FusionNeoAntigen RNA sequence |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide | FusionNEoAntigen RNA sequence |
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Information of the samples that have these potential fusion neoantigens of CFTR-SEC23IP |
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Cancer type | Fusion gene | Hchr | Hbp | Henst | Tchr | Tbp | Tenst | Sample |
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Potential target of CAR-T therapy development for CFTR-SEC23IP |
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![]() * Minus value of BPloci means that the break point is located before the CDS. |
- In-frame and retained 'Transmembrane'. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | CFTR | chr7:117199709 | chr10:121685548 | ENST00000003084 | + | 11 | 27 | 123_146 | 528 | 1481.0 | Transmembrane | Helical%3B Name%3D2 |
Hgene | CFTR | chr7:117199709 | chr10:121685548 | ENST00000003084 | + | 11 | 27 | 196_216 | 528 | 1481.0 | Transmembrane | Helical%3B Name%3D3 |
Hgene | CFTR | chr7:117199709 | chr10:121685548 | ENST00000003084 | + | 11 | 27 | 223_243 | 528 | 1481.0 | Transmembrane | Helical%3B Name%3D4 |
Hgene | CFTR | chr7:117199709 | chr10:121685548 | ENST00000003084 | + | 11 | 27 | 299_319 | 528 | 1481.0 | Transmembrane | Helical%3B Name%3D5 |
Hgene | CFTR | chr7:117199709 | chr10:121685548 | ENST00000003084 | + | 11 | 27 | 340_358 | 528 | 1481.0 | Transmembrane | Helical%3B Name%3D6 |
Hgene | CFTR | chr7:117199709 | chr10:121685548 | ENST00000003084 | + | 11 | 27 | 78_98 | 528 | 1481.0 | Transmembrane | Helical%3B Name%3D1 |
Hgene | CFTR | chr7:117199709 | chr10:121685548 | ENST00000454343 | + | 10 | 26 | 123_146 | 467 | 1420.0 | Transmembrane | Helical%3B Name%3D2 |
Hgene | CFTR | chr7:117199709 | chr10:121685548 | ENST00000454343 | + | 10 | 26 | 196_216 | 467 | 1420.0 | Transmembrane | Helical%3B Name%3D3 |
Hgene | CFTR | chr7:117199709 | chr10:121685548 | ENST00000454343 | + | 10 | 26 | 223_243 | 467 | 1420.0 | Transmembrane | Helical%3B Name%3D4 |
Hgene | CFTR | chr7:117199709 | chr10:121685548 | ENST00000454343 | + | 10 | 26 | 299_319 | 467 | 1420.0 | Transmembrane | Helical%3B Name%3D5 |
Hgene | CFTR | chr7:117199709 | chr10:121685548 | ENST00000454343 | + | 10 | 26 | 340_358 | 467 | 1420.0 | Transmembrane | Helical%3B Name%3D6 |
Hgene | CFTR | chr7:117199709 | chr10:121685548 | ENST00000454343 | + | 10 | 26 | 78_98 | 467 | 1420.0 | Transmembrane | Helical%3B Name%3D1 |
![]() * We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image. |
Hgene | Hchr | Hbp | Henst | Tgene | Tchr | Tbp | Tenst | DeepLoc result |
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Related Drugs to CFTR-SEC23IP |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to CFTR-SEC23IP |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |