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Fusion gene ID: 14532 |
FusionGeneSummary for GDF11_BLOC1S1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GDF11_BLOC1S1 | Fusion gene ID: 14532 | Hgene | Tgene | Gene symbol | GDF11 | BLOC1S1 | Gene ID | 10220 | 2647 |
| Gene name | growth differentiation factor 11 | biogenesis of lysosomal organelles complex 1 subunit 1 | |
| Synonyms | BMP-11|BMP11 | BLOS1|BORCS1|GCN5L1|MICoA|RT14 | |
| Cytomap | 12q13.2 | 12q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | growth/differentiation factor 11GDF-11bone morphogenetic protein 11 | biogenesis of lysosome-related organelles complex 1 subunit 1BLOC-1 subunit 1GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1GCN5 general control of amino-acid synthesis 5-like 1GCN5-like protein 1MTA1-interacting coactivator | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O95390 | P78537 | |
| Ensembl transtripts involved in fusion gene | ENST00000257868, | ENST00000257899, ENST00000548925, ENST00000549147, ENST00000547076, ENST00000551926, ENST00000548556, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 7 X 6 X 2=84 |
| # samples | 3 | 7 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/84*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GDF11 [Title/Abstract] AND BLOC1S1 [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 |
| 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 |
| TCGA | LD | BRCA | TCGA-A1-A0SO-01A | GDF11 | chr12 | 56137545 | + | BLOC1S1 | chr12 | 56112875 | + |
| * 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 |
| Frame-shift | ENST00000257868 | ENST00000257899 | GDF11 | chr12 | 56137545 | + | BLOC1S1 | chr12 | 56112875 | + |
| Frame-shift | ENST00000257868 | ENST00000548925 | GDF11 | chr12 | 56137545 | + | BLOC1S1 | chr12 | 56112875 | + |
| Frame-shift | ENST00000257868 | ENST00000549147 | GDF11 | chr12 | 56137545 | + | BLOC1S1 | chr12 | 56112875 | + |
| 5CDS-5UTR | ENST00000257868 | ENST00000547076 | GDF11 | chr12 | 56137545 | + | BLOC1S1 | chr12 | 56112875 | + |
| 5CDS-5UTR | ENST00000257868 | ENST00000551926 | GDF11 | chr12 | 56137545 | + | BLOC1S1 | chr12 | 56112875 | + |
| 5CDS-5UTR | ENST00000257868 | ENST00000548556 | GDF11 | chr12 | 56137545 | + | BLOC1S1 | chr12 | 56112875 | + |
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FusionProtFeatures for GDF11_BLOC1S1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GDF11 | BLOC1S1 |
| Secreted signal that acts globally to specify positionalidentity along the anterior/posterior axis during development. Mayplay critical roles in patterning both mesodermal and neuraltissues and in establishing the skeletal pattern (By similarity).Signals through activin receptors type-2, ACVR2A and ACVR2B, andactivin receptors type-1, ACVR1B, ACVR1C and TGFBR1 leading to thephosphorylation of SMAD2 and SMAD3 (PubMed:28257634).{ECO:0000250|UniProtKB:Q9Z1W4, ECO:0000269|PubMed:28257634}. | Component of the BLOC-1 complex, a complex that isrequired for normal biogenesis of lysosome-related organelles(LRO), such as platelet dense granules and melanosomes. In concertwith the AP-3 complex, the BLOC-1 complex is required to targetmembrane protein cargos into vesicles assembled at cell bodies fordelivery into neurites and nerve terminals. The BLOC-1 complex, inassociation with SNARE proteins, is also proposed to be involvedin neurite extension (PubMed:17182842). As part of the BORCcomplex may play a role in lysosomes movement and localization atthe cell periphery. Associated with the cytosolic face oflysosomes, the BORC complex may recruit ARL8B and couple lysosomesto microtubule plus-end-directed kinesin motor (PubMed:25898167).{ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:25898167}. May negatively regulate aerobic respiration throughmitochondrial protein lysine-acetylation. May counteract theaction of the deacetylase SIRT3 by acetylating and regulatingproteins of the mitochondrial respiratory chain including ATP5F1Aand NDUFA9. {ECO:0000269|PubMed:22309213}. |
| 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 GDF11_BLOC1S1 |
| 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 GDF11_BLOC1S1 |
| 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 |
| GDF11 | ANTXR1, TMEM25, SIAE, ERLEC1, LIPH, CRP, SCGB2A2, DKK3, BMP7, PCDHGA5, LYPD4, APP, PRSS2, TDGF1 | BLOC1S1 | BLOC1S6, DTNBP1, BLOC1S2, BLOC1S3, SNAPIN, PTN, MTA1, PELP1, ESR1, HDAC2, APP, TEX35, C17orf59, BCAS4, CLTC, MUS81, PTEN, SCLT1, TNFRSF8, IKBIP, CCDC53 |
| - 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 GDF11_BLOC1S1 |
| 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 |
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RelatedDiseases for GDF11_BLOC1S1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | BLOC1S1 | C0036341 | Schizophrenia | 1 | PSYGENET |
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