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Fusion gene ID: 41395 |
FusionGeneSummary for VCL_ATF6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: VCL_ATF6 | Fusion gene ID: 41395 | Hgene | Tgene | Gene symbol | VCL | ATF6 | Gene ID | 7414 | 22926 |
| Gene name | vinculin | activating transcription factor 6 | |
| Synonyms | CMD1W|CMH15|HEL114|MV|MVCL | ACHM7|ATF6A | |
| Cytomap | 10q22.2 | 1q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | vinculinepididymis luminal protein 114meta-vinculinmetavinculin | cyclic AMP-dependent transcription factor ATF-6 alphacAMP-dependent transcription factor ATF-6 alpha | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | P18206 | P18850 | |
| Ensembl transtripts involved in fusion gene | ENST00000211998, ENST00000372755, ENST00000478896, ENST00000417648, | ENST00000367942, ENST00000476437, | |
| Fusion gene scores | * DoF score | 10 X 7 X 10=700 | 8 X 7 X 7=392 |
| # samples | 12 | 11 | |
| ** MAII score | log2(12/700*10)=-2.54432051622381 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/392*10)=-1.83335013059055 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: VCL [Title/Abstract] AND ATF6 [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 |
| Tgene | ATF6 | GO:0043065 | positive regulation of apoptotic process | 14752510 |
| Tgene | ATF6 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 14973138 |
| Tgene | ATF6 | GO:1903893 | positive regulation of ATF6-mediated unfolded protein response | 9837962 |
| Tgene | ATF6 | GO:1990440 | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress | 11163209|11256944|16469704 |
| 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 | PRAD | TCGA-ZG-A9LY-01A | VCL | chr10 | 75855613 | + | ATF6 | chr1 | 161748034 | + |
| * 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 | ENST00000211998 | ENST00000367942 | VCL | chr10 | 75855613 | + | ATF6 | chr1 | 161748034 | + |
| 5CDS-intron | ENST00000211998 | ENST00000476437 | VCL | chr10 | 75855613 | + | ATF6 | chr1 | 161748034 | + |
| Frame-shift | ENST00000372755 | ENST00000367942 | VCL | chr10 | 75855613 | + | ATF6 | chr1 | 161748034 | + |
| 5CDS-intron | ENST00000372755 | ENST00000476437 | VCL | chr10 | 75855613 | + | ATF6 | chr1 | 161748034 | + |
| intron-3CDS | ENST00000478896 | ENST00000367942 | VCL | chr10 | 75855613 | + | ATF6 | chr1 | 161748034 | + |
| intron-intron | ENST00000478896 | ENST00000476437 | VCL | chr10 | 75855613 | + | ATF6 | chr1 | 161748034 | + |
| intron-3CDS | ENST00000417648 | ENST00000367942 | VCL | chr10 | 75855613 | + | ATF6 | chr1 | 161748034 | + |
| intron-intron | ENST00000417648 | ENST00000476437 | VCL | chr10 | 75855613 | + | ATF6 | chr1 | 161748034 | + |
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FusionProtFeatures for VCL_ATF6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| VCL | ATF6 |
| Actin filament (F-actin)-binding protein involved incell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing bythe E-cadherin complex. May also play important roles in cellmorphology and locomotion. {ECO:0000269|PubMed:20484056}. | Transmembrane glycoprotein of the endoplasmic reticulumthat functions as a transcription activator and initiates theunfolded protein response (UPR) during endoplasmic reticulumstress. Cleaved upon ER stress, the N-terminal processed cyclicAMP-dependent transcription factor ATF-6 alpha translocates to thenucleus where it activates transcription of genes involved in theUPR. Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress responseelement (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3'). Binding to ERSE requires binding of NF-Y toERSE. Could also be involved in activation of transcription by theserum response factor. May play a role in foveal development andcone function in the retina. {ECO:0000269|PubMed:10564271,ECO:0000269|PubMed:11158310, ECO:0000269|PubMed:11779464,ECO:0000269|PubMed:26029869}. |
| 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 VCL_ATF6 |
| 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 VCL_ATF6 |
| 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 |
| VCL | ABI2, C19orf57, TRIP6, CDH1, CTNNB1, PSME1, CORO2B, TGFB1I1, NRAP, PXN, GSN, BCAR1, VASP, SORBS1, SORBS2, CTNNA1, CLTC, DAG1, TUBA1A, SIRT7, CDK2, ITGB1, DNAJC5, TXNL1, SCAF4, URM1, ZC3HAV1L, SVIL, SSU72, SDHAF2, UBR1, VAPB, PGM5, USO1, ATP6V1A, UBA3, TPI1, UFC1, VCP, VCAM1, FN1, PRPF40A, ITGA4, ASNS, CTPS1, ECHS1, EIF5, FERMT2, GINS3, GSS, HSPA5, HSPA9, MSN, PDCD10, PDHA1, PDIA4, PPP1R2, PPP5C, RAP1GDS1, SFN, SNRPF, STK24, TUBB3, UBFD1, DCPS, ERP44, G6PD, GNAI3, ISOC1, PFAS, TBCB, XPO1, YWHAE, YWHAG, YWHAQ, YWHAZ, YWHAH, ASB7, VCL, TEKT1, UNK, PICALM, NTRK1, SELE, EWSR1, FBF1, LPXN, ACTG1, CAPZB, MYO1C, RPS27A, SPTAN1, TLN1, MKNK2, SEC16A, CDCA5, MPDZ, AP3M1, LIMA1, PPHLN1, RBM26, GKAP1, ASCC2, TRIM15, PAK4, FOCAD, TTC21B, UBE2N, HSD17B10, TRIM25, BRCA1 | ATF6 | GTF2I, YY1, ATF6, ATF6B, NFYA, NFYC, SRF, CREB1, SREBF2, WFS1, SYVN1, UBC, SP1, APP, XBP1, BPGM, DDC, NNMT, TNFRSF1A, FBXO6, MAPK14, HLA-E, ERLEC1, APOD, SH3TC1, RFWD2, STK40, ACLY, PARG, PCDH20, CDH5, PCDHAC1, PCDHB11, GABRD, CLEC3A, CLEC2D, CD300E, OS9, MGAT4C, PCDHB16, LRRN2, TRIM25 |
| - 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 VCL_ATF6 |
| 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 VCL_ATF6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | VCL | C1969639 | Cardiomyopathy, Dilated, 1w | 2 | CTD_human;UNIPROT |
| Hgene | VCL | C0029456 | Osteoporosis | 1 | CTD_human |
| Hgene | VCL | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
| Hgene | VCL | C2750459 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 | 1 | CTD_human;UNIPROT |
| Tgene | ATF6 | C0003949 | Asbestosis | 1 | CTD_human |
| Tgene | ATF6 | C0009398 | Color vision defect | 1 | CTD_human |
| Tgene | ATF6 | C0022336 | Creutzfeldt-Jakob disease | 1 | CTD_human |
| Tgene | ATF6 | C0035334 | Retinitis Pigmentosa | 1 | CTD_human |
| Tgene | ATF6 | C0036457 | Scrapie | 1 | CTD_human |
| Tgene | ATF6 | C0085636 | Photophobia | 1 | CTD_human;HPO |
| Tgene | ATF6 | C0700501 | Congenital nystagmus | 1 | CTD_human |
| Tgene | ATF6 | C4225297 | ACHROMATOPSIA 7 | 1 | UNIPROT |
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