![]() |
||||||
|
![]() | 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:ATF6-VCL (FusionGDB2 ID:HG22926TG7414) |
Fusion Gene Summary for ATF6-VCL |
![]() |
Fusion gene information | Fusion gene name: ATF6-VCL | Fusion gene ID: hg22926tg7414 | Hgene | Tgene | Gene symbol | ATF6 | VCL | Gene ID | 22926 | 7414 |
Gene name | activating transcription factor 6 | vinculin | |
Synonyms | ACHM7|ATF6A | CMD1W|CMH15|HEL114|MV|MVCL | |
Cytomap | ('ATF6')('VCL') 1q23.3 | 10q22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | cyclic AMP-dependent transcription factor ATF-6 alphacAMP-dependent transcription factor ATF-6 alpha | vinculinepididymis luminal protein 114epididymis secretory sperm binding proteinmeta-vinculinmetavinculin | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | P18850 | P18206 | |
Ensembl transtripts involved in fusion gene | ENST00000367942, ENST00000476437, | ENST00000476437, ENST00000367942, | |
Fusion gene scores | * DoF score | 12 X 10 X 8=960 | 10 X 13 X 5=650 |
# samples | 12 | 12 | |
** MAII score | log2(12/960*10)=-3 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/650*10)=-2.4374053123073 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ATF6 [Title/Abstract] AND VCL [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ATF6(161736232)-VCL(75854029), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | ATF6-VCL seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. VCL-ATF6 seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ATF6 | GO:0043065 | positive regulation of apoptotic process | 14752510 |
Hgene | ATF6 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 14973138 |
Hgene | ATF6 | GO:1903893 | positive regulation of ATF6-mediated unfolded protein response | 9837962 |
Hgene | ATF6 | GO:1990440 | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress | 11163209|11256944|16469704 |
Tgene | VCL | GO:1903140 | regulation of establishment of endothelial barrier | 26923917 |
![]() * 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 | PRAD | TCGA-ZG-A9LY-01A | ATF6 | chr1 | 161736232 | - | VCL | chr10 | 75854029 | + |
ChimerDB4 | PRAD | TCGA-ZG-A9LY-01A | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854029 | + |
ChimerDB4 | PRAD | TCGA-ZG-A9LY | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854028 | + |
ChimerDB4 | PRAD | TCGA-ZG-A9LY | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854029 | + |
Top |
Fusion Gene ORF analysis for ATF6-VCL |
![]() * 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 | ENST00000367942 | ENST00000417648 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854029 | + |
5CDS-intron | ENST00000367942 | ENST00000417648 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854028 | + |
5CDS-intron | ENST00000367942 | ENST00000478896 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854029 | + |
5CDS-intron | ENST00000367942 | ENST00000478896 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854028 | + |
Frame-shift | ENST00000367942 | ENST00000211998 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854029 | + |
Frame-shift | ENST00000367942 | ENST00000211998 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854028 | + |
Frame-shift | ENST00000367942 | ENST00000372755 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854029 | + |
Frame-shift | ENST00000367942 | ENST00000372755 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854028 | + |
intron-3CDS | ENST00000476437 | ENST00000211998 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854029 | + |
intron-3CDS | ENST00000476437 | ENST00000211998 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854028 | + |
intron-3CDS | ENST00000476437 | ENST00000372755 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854029 | + |
intron-3CDS | ENST00000476437 | ENST00000372755 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854028 | + |
intron-intron | ENST00000476437 | ENST00000417648 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854029 | + |
intron-intron | ENST00000476437 | ENST00000417648 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854028 | + |
intron-intron | ENST00000476437 | ENST00000478896 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854029 | + |
intron-intron | ENST00000476437 | ENST00000478896 | ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854028 | + |
![]() |
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) |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for ATF6-VCL |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854028 | + | 2.32E-10 | 1 |
ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854028 | + | 2.32E-10 | 1 |
ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854028 | + | 2.32E-10 | 1 |
ATF6 | chr1 | 161736232 | + | VCL | chr10 | 75854028 | + | 2.32E-10 | 1 |
![]() |
![]() |
Top |
Fusion Protein Features for ATF6-VCL |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:161736232/:75854029) - 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. |
![]() |
![]() |
Hgene | Tgene |
ATF6 | VCL |
FUNCTION: [Cyclic AMP-dependent transcription factor ATF-6 alpha]: Precursor of the transcription factor form (Processed cyclic AMP-dependent transcription factor ATF-6 alpha), which is embedded in the endoplasmic reticulum membrane (PubMed:10564271, PubMed:11158310, PubMed:11779464). Endoplasmic reticulum stress promotes processing of this form, releasing the transcription factor form that translocates into the nucleus, where it activates transcription of genes involved in the unfolded protein response (UPR) (PubMed:10564271, PubMed:11158310, PubMed:11779464). {ECO:0000269|PubMed:10564271, ECO:0000269|PubMed:11158310, ECO:0000269|PubMed:11779464}.; FUNCTION: [Processed cyclic AMP-dependent transcription factor ATF-6 alpha]: Transcription factor that initiates the unfolded protein response (UPR) during endoplasmic reticulum stress by activating transcription of genes involved in the UPR (PubMed:10564271, PubMed:11163209, PubMed:11158310, PubMed:11779464). Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3') (PubMed:10564271, PubMed:11158310, PubMed:11779464). Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor (PubMed:10564271, PubMed:11158310, PubMed:11779464). May play a role in foveal development and cone function in the retina (PubMed:26029869). {ECO:0000269|PubMed:10564271, ECO:0000269|PubMed:11158310, ECO:0000269|PubMed:11163209, ECO:0000269|PubMed:11779464, ECO:0000269|PubMed:26029869}. | FUNCTION: Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion. {ECO:0000269|PubMed:20484056}. |
![]() * 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 |
Top |
Fusion Gene Sequence for ATF6-VCL |
![]() |
Top |
Fusion Gene PPI Analysis for ATF6-VCL |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for ATF6-VCL |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for ATF6-VCL |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATF6 | C0152200 | Achromatopsia | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | ATF6 | C4225297 | ACHROMATOPSIA 7 | 2 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ATF6 | C0003949 | Asbestosis | 1 | CTD_human |
Hgene | ATF6 | C0009398 | Color vision defect | 1 | CTD_human |
Hgene | ATF6 | C0022336 | Creutzfeldt-Jakob disease | 1 | CTD_human |
Hgene | ATF6 | C0035334 | Retinitis Pigmentosa | 1 | CTD_human |
Hgene | ATF6 | C0036457 | Scrapie | 1 | CTD_human |
Hgene | ATF6 | C0085636 | Photophobia | 1 | CTD_human |
Hgene | ATF6 | C0155015 | Color Blindness, Red | 1 | CTD_human |
Hgene | ATF6 | C0155016 | Color Blindness, Red-Green | 1 | CTD_human |
Hgene | ATF6 | C0155017 | Color Blindness, Blue | 1 | CTD_human |
Hgene | ATF6 | C0155018 | Color Blindness, Acquired | 1 | CTD_human |
Hgene | ATF6 | C0239777 | Color Blindness, Green | 1 | CTD_human |
Hgene | ATF6 | C0242225 | Color blindness | 1 | CTD_human |
Hgene | ATF6 | C0376329 | New Variant Creutzfeldt-Jakob Disease | 1 | CTD_human |
Hgene | ATF6 | C0700501 | Congenital nystagmus | 1 | CTD_human |
Hgene | ATF6 | C0751042 | Color Blindness, Inherited | 1 | CTD_human |
Hgene | ATF6 | C0751043 | Monochromatopsia | 1 | CTD_human |
Hgene | ATF6 | C0751254 | Creutzfeldt-Jakob Disease, Familial | 1 | CTD_human |
Hgene | ATF6 | C2930617 | Pulmonary Fibrosis - from Asbestos Exposure | 1 | CTD_human |
Hgene | ATF6 | C3489532 | Cone-Rod Dystrophy 2 | 1 | ORPHANET |
Tgene | C1969639 | Cardiomyopathy, Dilated, 1w | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C2750459 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0007194 | Hypertrophic Cardiomyopathy | 3 | CLINGEN | |
Tgene | C0001787 | Osteoporosis, Age-Related | 1 | CTD_human | |
Tgene | C0029456 | Osteoporosis | 1 | CTD_human | |
Tgene | C0029459 | Osteoporosis, Senile | 1 | CTD_human | |
Tgene | C0340427 | Familial dilated cardiomyopathy | 1 | ORPHANET | |
Tgene | C0751406 | Post-Traumatic Osteoporosis | 1 | CTD_human | |
Tgene | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |