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Fusion Protein:NIPBL-ANKRD17 |
Fusion Gene and Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: NIPBL-ANKRD17 | FusionPDB ID: 59188 | FusionGDB2.0 ID: 59188 | Hgene | Tgene | Gene symbol | NIPBL | ANKRD17 | Gene ID | 25836 | 26057 |
Gene name | NIPBL cohesin loading factor | ankyrin repeat domain 17 | |
Synonyms | CDLS|CDLS1|IDN3|IDN3-B|Scc2 | GTAR|MASK2|NY-BR-16 | |
Cytomap | 5p13.2 | 4q13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | nipped-B-like proteinNipped-B homologSCC2 homologdelanginsister chromatid cohesion 2 homolog | ankyrin repeat domain-containing protein 17gene trap ankyrin repeat proteinserologically defined breast cancer antigen NY-BR-16 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q6KC79 Main function of 5'-partner protein: FUNCTION: Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity). {ECO:0000250|UniProtKB:Q6KCD5, ECO:0000269|PubMed:22628566, ECO:0000269|PubMed:28167679, ECO:0000269|PubMed:28914604}. | O75179 Main function of 5'-partner protein: FUNCTION: Could play pivotal roles in cell cycle and DNA regulation (PubMed:19150984). Involved in innate immune defense against viruse by positively regulating the viral dsRNA receptors DDX58 and IFIH1 signaling pathways (PubMed:22328336). Involves in NOD2- and NOD1-mediated responses to bacteria suggesting a role in innate antibacterial immune pathways too (PubMed:23711367). Target of enterovirus 71 which is the major etiological agent of HFMD (hand, foot and mouth disease) (PubMed:17276651). Could play a central role for the formation and/or maintenance of the blood vessels of the circulation system (By similarity). {ECO:0000250|UniProtKB:Q99NH0, ECO:0000269|PubMed:17276651, ECO:0000269|PubMed:19150984, ECO:0000269|PubMed:22328336, ECO:0000269|PubMed:23711367}. | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000282516, ENST00000448238, ENST00000504430, | ENST00000514252, ENST00000330838, ENST00000358602, ENST00000509867, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 26 X 13 X 16=5408 | 12 X 18 X 5=1080 |
# samples | 43 | 21 | |
** MAII score | log2(43/5408*10)=-3.65268658669272 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(21/1080*10)=-2.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Fusion gene context | PubMed: NIPBL [Title/Abstract] AND ANKRD17 [Title/Abstract] AND fusion [Title/Abstract] | ||
Fusion neoantigen context | PubMed: NIPBL [Title/Abstract] AND ANKRD17 [Title/Abstract] AND neoantigen [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | NIPBL(37010327)-ANKRD17(74043250), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | NIPBL-ANKRD17 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. NIPBL-ANKRD17 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. NIPBL-ANKRD17 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. NIPBL-ANKRD17 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 | NIPBL | GO:0000122 | negative regulation of transcription by RNA polymerase II | 18854353 |
Hgene | NIPBL | GO:0031065 | positive regulation of histone deacetylation | 18854353 |
Hgene | NIPBL | GO:0045892 | negative regulation of transcription, DNA-templated | 18854353 |
Hgene | NIPBL | GO:0071921 | cohesin loading | 22628566 |
Tgene | ANKRD17 | GO:0042742 | defense response to bacterium | 23711367 |
Tgene | ANKRD17 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 22328336 |
Tgene | ANKRD17 | GO:0045087 | innate immune response | 23711367 |
Tgene | ANKRD17 | GO:1900245 | positive regulation of MDA-5 signaling pathway | 22328336 |
Tgene | ANKRD17 | GO:1900246 | positive regulation of RIG-I signaling pathway | 22328336 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:37010327/chr4:74043250) - 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) |
ENST00000282516 | NIPBL | chr5 | 37010327 | + | ENST00000358602 | ANKRD17 | chr4 | 74043250 | - | 15333 | 5059 | 499 | 12477 | 3992 |
ENST00000282516 | NIPBL | chr5 | 37010327 | + | ENST00000509867 | ANKRD17 | chr4 | 74043250 | - | 13023 | 5059 | 499 | 12477 | 3992 |
ENST00000282516 | NIPBL | chr5 | 37010327 | + | ENST00000330838 | ANKRD17 | chr4 | 74043250 | - | 12270 | 5059 | 499 | 11724 | 3741 |
ENST00000448238 | NIPBL | chr5 | 37010327 | + | ENST00000358602 | ANKRD17 | chr4 | 74043250 | - | 15302 | 5028 | 468 | 12446 | 3992 |
ENST00000448238 | NIPBL | chr5 | 37010327 | + | ENST00000509867 | ANKRD17 | chr4 | 74043250 | - | 12992 | 5028 | 468 | 12446 | 3992 |
ENST00000448238 | NIPBL | chr5 | 37010327 | + | ENST00000330838 | ANKRD17 | chr4 | 74043250 | - | 12239 | 5028 | 468 | 11693 | 3741 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000282516 | ENST00000358602 | NIPBL | chr5 | 37010327 | + | ANKRD17 | chr4 | 74043250 | - | 0.00043176 | 0.9995683 |
ENST00000282516 | ENST00000509867 | NIPBL | chr5 | 37010327 | + | ANKRD17 | chr4 | 74043250 | - | 0.000963637 | 0.99903643 |
ENST00000282516 | ENST00000330838 | NIPBL | chr5 | 37010327 | + | ANKRD17 | chr4 | 74043250 | - | 0.00079814 | 0.99920183 |
ENST00000448238 | ENST00000358602 | NIPBL | chr5 | 37010327 | + | ANKRD17 | chr4 | 74043250 | - | 0.000423106 | 0.99957687 |
ENST00000448238 | ENST00000509867 | NIPBL | chr5 | 37010327 | + | ANKRD17 | chr4 | 74043250 | - | 0.000946165 | 0.9990538 |
ENST00000448238 | ENST00000330838 | NIPBL | chr5 | 37010327 | + | ANKRD17 | chr4 | 74043250 | - | 0.000784133 | 0.99921584 |
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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 NIPBL-ANKRD17 |
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Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Length(fusion protein) | BP in fusion protein | Peptide |
NIPBL | chr5 | 37010327 | ANKRD17 | chr4 | 74043250 | 5028 | 1520 | EKDSNAEEDSNKKVESFILDQDDLEN |
NIPBL | chr5 | 37010327 | ANKRD17 | chr4 | 74043250 | 5059 | 1520 | EKDSNAEEDSNKKVESFILDQDDLEN |
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Potential FusionNeoAntigen Information of NIPBL-ANKRD17 in HLA I |
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NIPBL-ANKRD17_37010327_74043250.msa |
![]() * 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) |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B45:01 | AEEDSNKKV | 0.9987 | 0.807 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B50:02 | AEEDSNKKV | 0.9955 | 0.5751 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B14:01 | NKKVESFIL | 0.9569 | 0.5449 | 10 | 19 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B14:02 | NKKVESFIL | 0.9569 | 0.5449 | 10 | 19 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B44:03 | AEEDSNKKV | 0.8977 | 0.9663 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B41:01 | AEEDSNKKV | 0.4178 | 0.8698 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B15:37 | NKKVESFIL | 0.2742 | 0.7451 | 10 | 19 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B50:01 | AEEDSNKKV | 0.1405 | 0.6835 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B44:03 | EEDSNKKVESF | 0.9998 | 0.9522 | 6 | 17 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B40:06 | AEEDSNKKV | 0.9988 | 0.5987 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B39:12 | NKKVESFIL | 0.9163 | 0.9049 | 10 | 19 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B14:03 | DSNKKVESF | 0.4694 | 0.7275 | 8 | 17 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B39:08 | AEEDSNKKV | 0.3475 | 0.8153 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B40:04 | AEEDSNKKV | 0.9896 | 0.7033 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-A25:01 | DSNKKVESF | 0.945 | 0.8247 | 8 | 17 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B44:26 | AEEDSNKKV | 0.8977 | 0.9663 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B44:13 | AEEDSNKKV | 0.8977 | 0.9663 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B44:07 | AEEDSNKKV | 0.8977 | 0.9663 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B35:24 | DSNKKVESF | 0.8626 | 0.8531 | 8 | 17 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B18:04 | DSNKKVESF | 0.5984 | 0.8968 | 8 | 17 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B41:03 | AEEDSNKKV | 0.4577 | 0.5253 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B18:07 | DSNKKVESF | 0.3289 | 0.811 | 8 | 17 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B15:08 | DSNKKVESF | 0.2687 | 0.754 | 8 | 17 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B35:43 | DSNKKVESF | 0.2626 | 0.7533 | 8 | 17 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B15:11 | DSNKKVESF | 0.2608 | 0.7593 | 8 | 17 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B50:05 | AEEDSNKKV | 0.1405 | 0.6835 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B50:04 | AEEDSNKKV | 0.1405 | 0.6835 | 5 | 14 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B44:26 | EEDSNKKVESF | 0.9998 | 0.9522 | 6 | 17 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B44:13 | EEDSNKKVESF | 0.9998 | 0.9522 | 6 | 17 |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 | HLA-B44:07 | EEDSNKKVESF | 0.9998 | 0.9522 | 6 | 17 |
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Potential FusionNeoAntigen Information of NIPBL-ANKRD17 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 NIPBL-ANKRD17 |
![]() * 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. |
File name | BPseq | Hgene | Tgene | Hchr | Hbp | Tchr | Tbp | AAlen |
1639 | EEDSNKKVESFILD | NIPBL | ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5059 |
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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of NIPBL-ANKRD17 |
![]() * We used Glide to predict the interaction between HLAs and neoantigens. |
HLA allele | PDB ID | File name | BPseq | Docking score | Glide score |
HLA-B14:02 | 3BVN | 1639 | EEDSNKKVESFILD | -7.9962 | -8.1096 |
HLA-B14:02 | 3BVN | 1639 | EEDSNKKVESFILD | -5.70842 | -6.74372 |
HLA-B52:01 | 3W39 | 1639 | EEDSNKKVESFILD | -6.83737 | -6.95077 |
HLA-B52:01 | 3W39 | 1639 | EEDSNKKVESFILD | -4.4836 | -5.5189 |
HLA-A11:01 | 4UQ2 | 1639 | EEDSNKKVESFILD | -10.0067 | -10.1201 |
HLA-A11:01 | 4UQ2 | 1639 | EEDSNKKVESFILD | -9.03915 | -10.0745 |
HLA-A24:02 | 5HGA | 1639 | EEDSNKKVESFILD | -6.56204 | -6.67544 |
HLA-A24:02 | 5HGA | 1639 | EEDSNKKVESFILD | -5.42271 | -6.45801 |
HLA-B44:05 | 3DX8 | 1639 | EEDSNKKVESFILD | -7.85648 | -8.89178 |
HLA-B44:05 | 3DX8 | 1639 | EEDSNKKVESFILD | -5.3978 | -5.5112 |
HLA-A02:01 | 6TDR | 1639 | EEDSNKKVESFILD | -3.37154 | -4.40684 |
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Vaccine Design for the FusionNeoAntigens of NIPBL-ANKRD17 |
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Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide sequence | FusionNeoAntigen RNA sequence |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 10 | 19 | NKKVESFIL | AATAAAAAAGTGGAGTCTTTCATTTTG |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 5 | 14 | AEEDSNKKV | GCAGAAGAAGATTCAAATAAAAAAGTG |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 6 | 17 | EEDSNKKVESF | GAAGAAGATTCAAATAAAAAAGTGGAGTCTTTC |
NIPBL-ANKRD17 | chr5 | 37010327 | chr4 | 74043250 | 8 | 17 | DSNKKVESF | GATTCAAATAAAAAAGTGGAGTCTTTC |
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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 NIPBL-ANKRD17 |
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Cancer type | Fusion gene | Hchr | Hbp | Henst | Tchr | Tbp | Tenst | Sample |
BRCA | NIPBL-ANKRD17 | chr5 | 37010327 | ENST00000282516 | chr4 | 74043250 | ENST00000330838 | TCGA-A2-A0T1-01A |
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Potential target of CAR-T therapy development for NIPBL-ANKRD17 |
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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 |
![]() * 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 NIPBL-ANKRD17 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to NIPBL-ANKRD17 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |