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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:ANKRD29-NPC1 (FusionGDB2 ID:HG147463TG4864) |
Fusion Gene Summary for ANKRD29-NPC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANKRD29-NPC1 | Fusion gene ID: hg147463tg4864 | Hgene | Tgene | Gene symbol | ANKRD29 | NPC1 | Gene ID | 147463 | 4864 |
| Gene name | ankyrin repeat domain 29 | NPC intracellular cholesterol transporter 1 | |
| Synonyms | - | NPC|POGZ|SLC65A1 | |
| Cytomap | ('ANKRD29')('NPC1') 18q11.2 | 18q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ankyrin repeat domain-containing protein 29 | NPC intracellular cholesterol transporter 1Niemann-Pick C1 proteintruncated Niemann-Pick C1 | |
| Modification date | 20200313 | 20200315 | |
| UniProtAcc | Q8N6D5 | O15118 | |
| Ensembl transtripts involved in fusion gene | ENST00000284207, ENST00000322980, ENST00000592179, ENST00000585908, ENST00000586511, | ENST00000284207, ENST00000585908, ENST00000586511, ENST00000322980, ENST00000592179, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 12 X 11 X 5=660 |
| # samples | 1 | 13 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(13/660*10)=-2.34395440121736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ANKRD29 [Title/Abstract] AND NPC1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ANKRD29(21209817)-NPC1(21102870), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | NPC1-ANKRD29 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. NPC1-ANKRD29 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. NPC1-ANKRD29 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target 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) |
| 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 | NPC1 | GO:0006486 | protein glycosylation | 10821832 |
| Tgene | NPC1 | GO:0030301 | cholesterol transport | 18772377 |
| Tgene | NPC1 | GO:0033344 | cholesterol efflux | 16141411 |
| Tgene | NPC1 | GO:0042632 | cholesterol homeostasis | 12719428 |
| Tgene | NPC1 | GO:0090150 | establishment of protein localization to membrane | 23360953 |
| Fusion gene information * 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 | COAD | TCGA-4N-A93T-01A | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
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Fusion Gene ORF analysis for ANKRD29-NPC1 |
| 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 |
| 5CDS-intron | ENST00000284207 | ENST00000269228 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| 5CDS-intron | ENST00000284207 | ENST00000412552 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| 5CDS-intron | ENST00000284207 | ENST00000540608 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| 5CDS-intron | ENST00000322980 | ENST00000269228 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| 5CDS-intron | ENST00000322980 | ENST00000412552 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| 5CDS-intron | ENST00000322980 | ENST00000540608 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| 5CDS-intron | ENST00000592179 | ENST00000269228 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| 5CDS-intron | ENST00000592179 | ENST00000412552 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| 5CDS-intron | ENST00000592179 | ENST00000540608 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| intron-intron | ENST00000585908 | ENST00000269228 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| intron-intron | ENST00000585908 | ENST00000412552 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| intron-intron | ENST00000585908 | ENST00000540608 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| intron-intron | ENST00000586511 | ENST00000269228 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| intron-intron | ENST00000586511 | ENST00000412552 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| intron-intron | ENST00000586511 | ENST00000540608 | ANKRD29 | chr18 | 21209817 | - | NPC1 | chr18 | 21102870 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ANKRD29-NPC1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ANKRD29-NPC1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:21209817/:21102870) - 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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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ANKRD29 | NPC1 |
| FUNCTION: Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:9211849, PubMed:9927649, PubMed:10821832, PubMed:18772377, PubMed:27238017, PubMed:12554680). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:9211849, PubMed:9927649, PubMed:18772377, PubMed:19563754, PubMed:27238017, PubMed:28784760). Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (PubMed:19563754). Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable). {ECO:0000269|PubMed:10821832, ECO:0000269|PubMed:12554680, ECO:0000269|PubMed:18772377, ECO:0000269|PubMed:19563754, ECO:0000269|PubMed:27238017, ECO:0000269|PubMed:28784760, ECO:0000269|PubMed:9211849, ECO:0000269|PubMed:9927649, ECO:0000305}.; FUNCTION: (Microbial infection) Acts as an endosomal entry receptor for ebolavirus. {ECO:0000269|PubMed:21866103, ECO:0000269|PubMed:25855742, ECO:0000269|PubMed:32855215}. |
| 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 |
| - 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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Fusion Gene Sequence for ANKRD29-NPC1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for ANKRD29-NPC1 |
| 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 |
| - 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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Related Drugs for ANKRD29-NPC1 |
| Drugs targeting genes involved in this fusion gene. (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 ANKRD29-NPC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | C3179455 | Niemann-Pick Disease, Type C1 | 26 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0220756 | Niemann-Pick Disease, Type C | 3 | CTD_human;GENOMICS_ENGLAND | |
| Tgene | C0268247 | Niemann-Pick Disease, Type D | 2 | CTD_human;GENOMICS_ENGLAND | |
| Tgene | C0004134 | Ataxia | 1 | CTD_human | |
| Tgene | C0004153 | Atherosclerosis | 1 | CTD_human | |
| Tgene | C0006309 | Brucellosis | 1 | CTD_human | |
| Tgene | C0013362 | Dysarthria | 1 | CTD_human | |
| Tgene | C0023890 | Liver Cirrhosis | 1 | CTD_human | |
| Tgene | C0023895 | Liver diseases | 1 | CTD_human | |
| Tgene | C0028754 | Obesity | 1 | CTD_human | |
| Tgene | C0029089 | Ophthalmoplegia | 1 | CTD_human | |
| Tgene | C0086565 | Liver Dysfunction | 1 | CTD_human | |
| Tgene | C0162292 | External Ophthalmoplegia | 1 | CTD_human | |
| Tgene | C0238198 | Gastrointestinal Stromal Tumors | 1 | CTD_human | |
| Tgene | C0239946 | Fibrosis, Liver | 1 | CTD_human | |
| Tgene | C0240952 | Dysarthria, Scanning | 1 | CTD_human | |
| Tgene | C0240991 | Ataxia, Sensory | 1 | CTD_human | |
| Tgene | C0278161 | Ataxia, Motor | 1 | CTD_human | |
| Tgene | C0339693 | Internal Ophthalmoplegia | 1 | CTD_human | |
| Tgene | C0427190 | Ataxia, Truncal | 1 | CTD_human | |
| Tgene | C0454596 | Dysarthria, Spastic | 1 | CTD_human | |
| Tgene | C0454597 | Dysarthria, Flaccid | 1 | CTD_human | |
| Tgene | C0454598 | Dysarthria, Mixed | 1 | CTD_human | |
| Tgene | C0520966 | Abnormal coordination | 1 | CTD_human | |
| Tgene | C0750937 | Ataxia, Appendicular | 1 | CTD_human | |
| Tgene | C0750940 | Tremor, Rubral | 1 | CTD_human | |
| Tgene | C0751401 | Ophthalmoparesis | 1 | CTD_human | |
| Tgene | C1563666 | Dysarthria, Guttural | 1 | CTD_human | |
| Tgene | C1563937 | Atherogenesis | 1 | CTD_human | |
| Tgene | C2231324 | Brucellosis, Pulmonary | 1 | CTD_human | |
| Tgene | C3179349 | Gastrointestinal Stromal Sarcoma | 1 | CTD_human |
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