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Fusion gene ID: 26359 |
FusionGeneSummary for PDCD6_ZNF605 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PDCD6_ZNF605 | Fusion gene ID: 26359 | Hgene | Tgene | Gene symbol | PDCD6 | ZNF605 | Gene ID | 10016 | 100289635 |
Gene name | programmed cell death 6 | zinc finger protein 605 | |
Synonyms | ALG-2|ALG2|PEF1B | - | |
Cytomap | 5p15.33 | 12q24.33 | |
Type of gene | protein-coding | protein-coding | |
Description | programmed cell death protein 6apoptosis-linked gene 2 proteinapoptosis-linked gene 2 protein homologprobable calcium-binding protein ALG-2 | zinc finger protein 605 | |
Modification date | 20180519 | 20180522 | |
UniProtAcc | O75340 | Q86T29 | |
Ensembl transtripts involved in fusion gene | ENST00000264933, ENST00000505221, ENST00000509581, ENST00000507528, ENST00000511482, | ENST00000360187, ENST00000392321, ENST00000331711, | |
Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 3 X 3 X 3=27 |
# samples | 6 | 3 | |
** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: PDCD6 [Title/Abstract] AND ZNF605 [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 | PDCD6 | GO:0001938 | positive regulation of endothelial cell proliferation | 21893193 |
Hgene | PDCD6 | GO:0006886 | intracellular protein transport | 21122810 |
Hgene | PDCD6 | GO:0010595 | positive regulation of endothelial cell migration | 21893193 |
Hgene | PDCD6 | GO:0030948 | negative regulation of vascular endothelial growth factor receptor signaling pathway | 21893193 |
Hgene | PDCD6 | GO:0032007 | negative regulation of TOR signaling | 21893193 |
Hgene | PDCD6 | GO:0034605 | cellular response to heat | 21122810 |
Hgene | PDCD6 | GO:0036324 | vascular endothelial growth factor receptor-2 signaling pathway | 21893193 |
Hgene | PDCD6 | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 16132846 |
Hgene | PDCD6 | GO:0045766 | positive regulation of angiogenesis | 21893193 |
Hgene | PDCD6 | GO:0051898 | negative regulation of protein kinase B signaling | 21893193 |
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 | CF528651 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
* 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 |
5CDS-intron | ENST00000264933 | ENST00000360187 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
5CDS-intron | ENST00000264933 | ENST00000392321 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
5CDS-intron | ENST00000264933 | ENST00000331711 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
3UTR-intron | ENST00000505221 | ENST00000360187 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
3UTR-intron | ENST00000505221 | ENST00000392321 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
3UTR-intron | ENST00000505221 | ENST00000331711 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
intron-intron | ENST00000509581 | ENST00000360187 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
intron-intron | ENST00000509581 | ENST00000392321 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
intron-intron | ENST00000509581 | ENST00000331711 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
5CDS-intron | ENST00000507528 | ENST00000360187 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
5CDS-intron | ENST00000507528 | ENST00000392321 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
5CDS-intron | ENST00000507528 | ENST00000331711 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
3UTR-intron | ENST00000511482 | ENST00000360187 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
3UTR-intron | ENST00000511482 | ENST00000392321 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
3UTR-intron | ENST00000511482 | ENST00000331711 | PDCD6 | chr5 | 314573 | - | ZNF605 | chr12 | 133511642 | + |
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FusionProtFeatures for PDCD6_ZNF605 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PDCD6 | ZNF605 |
Calcium sensor that plays a key role in processes suchas endoplasmic reticulum (ER)-Golgi vesicular transport, endosomalbiogenesis or membrane repair. Acts as an adapter that bridgesunrelated proteins or stabilizes weak protein-protein complexes inresponse to calcium: calcium-binding triggers exposure of apolarsurface, promoting interaction with different sets of proteinsthanks to 3 different hydrophobic pockets, leading totranslocation to membranes (PubMed:20691033, PubMed:25667979).Involved in ER-Golgi transport by promoting the associationbetween PDCD6IP and TSG101, thereby bridging together the ESCRT-III and ESCRT-I complexes (PubMed:19520058). Together with PEF1,acts as calcium-dependent adapter for the BCR(KLHL12) complex, acomplex involved in ER-Golgi transport by regulating the size ofCOPII coats (PubMed:27716508). In response to cytosolic calciumincrease, the heterodimer formed with PEF1 interacts with, andbridges together the BCR(KLHL12) complex and SEC31 (SEC31A orSEC31B), promoting monoubiquitination of SEC31 and subsequentcollagen export, which is required for neural crest specification(PubMed:27716508). Involved in the regulation of the distributionand function of MCOLN1 in the endosomal pathway (PubMed:19864416).Promotes localization and polymerization of TFG at endoplasmicreticulum exit site (PubMed:27813252). Required for T-cellreceptor-, Fas-, and glucocorticoid-induced apoptosis (Bysimilarity). May mediate Ca(2+)-regulated signals along the deathpathway: interaction with DAPK1 can accelerate apoptotic celldeath by increasing caspase-3 activity (PubMed:16132846). Its rolein apoptosis may however be indirect, as suggested by knockoutexperiments (By similarity). May inhibit KDR/VEGFR2-dependentangiogenesis; the function involves inhibition of VEGF-inducedphosphorylation of the Akt signaling pathway (PubMed:21893193). Incase of infection by HIV-1 virus, indirectly inhibits HIV-1production by affecting viral Gag expression and distribution(PubMed:27784779). {ECO:0000250|UniProtKB:P12815,ECO:0000269|PubMed:16132846, ECO:0000269|PubMed:19520058,ECO:0000269|PubMed:19864416, ECO:0000269|PubMed:20691033,ECO:0000269|PubMed:21893193, ECO:0000269|PubMed:25667979,ECO:0000269|PubMed:27716508, ECO:0000269|PubMed:27784779,ECO:0000269|PubMed:27813252}. Isoform 2: Has a lower Ca(2+) affinity than isoform 1(By similarity). {ECO:0000250|UniProtKB:P12815}. | May be involved in transcriptional regulation. |
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 PDCD6_ZNF605 |
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 PDCD6_ZNF605 |
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 PDCD6_ZNF605 |
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 |
Hgene | PDCD6 | O75340 | DB11093 | Calcium Citrate | Programmed cell death protein 6 | small molecule | approved |
Hgene | PDCD6 | O75340 | DB11348 | Calcium Phosphate | Programmed cell death protein 6 | small molecule | approved |
Hgene | PDCD6 | O75340 | DB01593 | Zinc | Programmed cell death protein 6 | small molecule | approved|investigational |
Hgene | PDCD6 | O75340 | DB01373 | Calcium | Programmed cell death protein 6 | small molecule | approved|nutraceutical |
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RelatedDiseases for PDCD6_ZNF605 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PDCD6 | C0011573 | Endogenous depression | 1 | PSYGENET |