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Fusion gene ID: 4203 |
FusionGeneSummary for BLCAP_FTH1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BLCAP_FTH1 | Fusion gene ID: 4203 | Hgene | Tgene | Gene symbol | BLCAP | FTH1 | Gene ID | 10904 | 2495 |
| Gene name | BLCAP, apoptosis inducing factor | ferritin heavy chain 1 | |
| Synonyms | BC10 | FHC|FTH|FTHL6|HFE5|PIG15|PLIF | |
| Cytomap | 20q11.23 | 11q12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bladder cancer-associated proteinbladder cancer associated proteinbladder cancer related protein (10kD) | ferritin heavy chainapoferritincell proliferation-inducing gene 15 proteinferritin H subunitferritin, heavy polypeptide 1placenta immunoregulatory factorproliferation-inducing protein 15 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P62952 | P02794 | |
| Ensembl transtripts involved in fusion gene | ENST00000411780, ENST00000397137, ENST00000373537, ENST00000414542, ENST00000397135, ENST00000397134, ENST00000397131, | ENST00000529631, ENST00000529191, ENST00000273550, ENST00000526640, ENST00000532601, | |
| Fusion gene scores | * DoF score | 6 X 6 X 1=36 | 5 X 5 X 1=25 |
| # samples | 6 | 5 | |
| ** MAII score | log2(6/36*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/25*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: BLCAP [Title/Abstract] AND FTH1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | BLCAP | GO:0030262 | apoptotic nuclear changes | 17031575 |
| Tgene | FTH1 | GO:0006880 | intracellular sequestering of iron ion | 9924025 |
| Tgene | FTH1 | GO:0048147 | negative regulation of fibroblast proliferation | 9924025 |
| 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 |
| ChiTaRS3.1 | BC001481 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| * 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 |
| intron-5UTR | ENST00000411780 | ENST00000529631 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000411780 | ENST00000529191 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000411780 | ENST00000273550 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000411780 | ENST00000526640 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000411780 | ENST00000532601 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000397137 | ENST00000529631 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000397137 | ENST00000529191 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000397137 | ENST00000273550 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000397137 | ENST00000526640 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000397137 | ENST00000532601 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000373537 | ENST00000529631 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000373537 | ENST00000529191 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000373537 | ENST00000273550 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000373537 | ENST00000526640 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000373537 | ENST00000532601 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000414542 | ENST00000529631 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000414542 | ENST00000529191 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000414542 | ENST00000273550 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000414542 | ENST00000526640 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000414542 | ENST00000532601 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000397135 | ENST00000529631 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000397135 | ENST00000529191 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000397135 | ENST00000273550 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000397135 | ENST00000526640 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000397135 | ENST00000532601 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000397134 | ENST00000529631 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000397134 | ENST00000529191 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000397134 | ENST00000273550 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000397134 | ENST00000526640 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000397134 | ENST00000532601 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000397131 | ENST00000529631 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000397131 | ENST00000529191 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-5UTR | ENST00000397131 | ENST00000273550 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000397131 | ENST00000526640 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
| intron-intron | ENST00000397131 | ENST00000532601 | BLCAP | chr20 | 36146457 | - | FTH1 | chr11 | 61735089 | - |
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FusionProtFeatures for BLCAP_FTH1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BLCAP | FTH1 |
| May regulate cell proliferation and coordinate apoptosisand cell cycle progression via a novel mechanism independent ofboth p53/TP53 and NF-kappa-B. {ECO:0000269|PubMed:17031575}. | Stores iron in a soluble, non-toxic, readily availableform. Important for iron homeostasis. Has ferroxidase activity.Iron is taken up in the ferrous form and deposited as ferrichydroxides after oxidation. Also plays a role in delivery of ironto cells. Mediates iron uptake in capsule cells of the developingkidney (By similarity). {ECO:0000250}. |
| 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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FusionGeneSequence for BLCAP_FTH1 |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for BLCAP_FTH1 |
| 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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RelatedDrugs for BLCAP_FTH1 |
| 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 |
| Tgene | FTH1 | P02794 | DB01592 | Iron | Ferritin heavy chain | small molecule | approved |
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RelatedDiseases for BLCAP_FTH1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | FTH1 | C0011581 | Depressive disorder | 1 | CTD_human |
| Tgene | FTH1 | C0011616 | Contact Dermatitis | 1 | CTD_human |
| Tgene | FTH1 | C0017638 | Glioma | 1 | CTD_human |
| Tgene | FTH1 | C0022548 | Keloid | 1 | CTD_human |
| Tgene | FTH1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | FTH1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Tgene | FTH1 | C0282193 | Iron Overload | 1 | CTD_human |
| Tgene | FTH1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Tgene | FTH1 | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |
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