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Fusion gene ID: 7925 |
FusionGeneSummary for COL3A1_AMOT |
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Fusion gene information | Fusion gene name: COL3A1_AMOT | Fusion gene ID: 7925 | Hgene | Tgene | Gene symbol | COL3A1 | AMOT | Gene ID | 1281 | 154796 |
Gene name | collagen type III alpha 1 chain | angiomotin | |
Synonyms | EDS4A|EDSVASC | - | |
Cytomap | 2q32.2 | Xq23 | |
Type of gene | protein-coding | protein-coding | |
Description | collagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1 | angiomotinangiomotin p130 isoformangiomotin p80 isoform | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P02461 | Q4VCS5 | |
Ensembl transtripts involved in fusion gene | ENST00000304636, ENST00000317840, | ENST00000304758, ENST00000524145, ENST00000462114, ENST00000371959, ENST00000371962, ENST00000371958, | |
Fusion gene scores | * DoF score | 24 X 18 X 11=4752 | 2 X 2 X 1=4 |
# samples | 29 | 2 | |
** MAII score | log2(29/4752*10)=-4.03441003078583 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: COL3A1 [Title/Abstract] AND AMOT [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | COL3A1 | GO:0007160 | cell-matrix adhesion | 16912226 |
Hgene | COL3A1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 16360482 |
Hgene | COL3A1 | GO:0009314 | response to radiation | 14736764 |
Hgene | COL3A1 | GO:0018149 | peptide cross-linking | 16754721 |
Hgene | COL3A1 | GO:0034097 | response to cytokine | 9076960|16360482 |
Hgene | COL3A1 | GO:0042060 | wound healing | 1466622 |
Tgene | AMOT | GO:0016525 | negative regulation of angiogenesis | 11257124 |
Tgene | AMOT | GO:0030334 | regulation of cell migration | 11257124 |
Tgene | AMOT | GO:0034613 | cellular protein localization | 21205866 |
![]() (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 | AL599526 | COL3A1 | chr2 | 189839269 | + | AMOT | chrX | 112058970 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-5UTR | ENST00000304636 | ENST00000304758 | COL3A1 | chr2 | 189839269 | + | AMOT | chrX | 112058970 | - |
5CDS-5UTR | ENST00000304636 | ENST00000524145 | COL3A1 | chr2 | 189839269 | + | AMOT | chrX | 112058970 | - |
5CDS-intron | ENST00000304636 | ENST00000462114 | COL3A1 | chr2 | 189839269 | + | AMOT | chrX | 112058970 | - |
5CDS-intron | ENST00000304636 | ENST00000371959 | COL3A1 | chr2 | 189839269 | + | AMOT | chrX | 112058970 | - |
5CDS-intron | ENST00000304636 | ENST00000371962 | COL3A1 | chr2 | 189839269 | + | AMOT | chrX | 112058970 | - |
5CDS-intron | ENST00000304636 | ENST00000371958 | COL3A1 | chr2 | 189839269 | + | AMOT | chrX | 112058970 | - |
5CDS-5UTR | ENST00000317840 | ENST00000304758 | COL3A1 | chr2 | 189839269 | + | AMOT | chrX | 112058970 | - |
5CDS-5UTR | ENST00000317840 | ENST00000524145 | COL3A1 | chr2 | 189839269 | + | AMOT | chrX | 112058970 | - |
5CDS-intron | ENST00000317840 | ENST00000462114 | COL3A1 | chr2 | 189839269 | + | AMOT | chrX | 112058970 | - |
5CDS-intron | ENST00000317840 | ENST00000371959 | COL3A1 | chr2 | 189839269 | + | AMOT | chrX | 112058970 | - |
5CDS-intron | ENST00000317840 | ENST00000371962 | COL3A1 | chr2 | 189839269 | + | AMOT | chrX | 112058970 | - |
5CDS-intron | ENST00000317840 | ENST00000371958 | COL3A1 | chr2 | 189839269 | + | AMOT | chrX | 112058970 | - |
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FusionProtFeatures for COL3A1_AMOT |
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Hgene | Tgene |
COL3A1 | AMOT |
Plays a central role in tight junction maintenance viathe complex formed with ARHGAP17, which acts by regulating theuptake of polarity proteins at tight junctions. Appears toregulate endothelial cell migration and tube formation. May alsoplay a role in the assembly of endothelial cell-cell junctions.{ECO:0000269|PubMed:11257124, ECO:0000269|PubMed:16678097}. |
![]() * 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 COL3A1_AMOT |
![]() (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 COL3A1_AMOT |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for COL3A1_AMOT |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | COL3A1 | P02461 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-1(III) chain | biotech | approved|investigational |
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RelatedDiseases for COL3A1_AMOT |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COL3A1 | C0268338 | Ehlers-Danlos Syndrome, Type IV | 23 | ORPHANET;UNIPROT |
Hgene | COL3A1 | C0023890 | Liver Cirrhosis | 5 | CTD_human |
Hgene | COL3A1 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
Hgene | COL3A1 | C1853365 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 | 2 | ORPHANET;UNIPROT |
Hgene | COL3A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
Hgene | COL3A1 | C0015695 | Fatty Liver | 1 | CTD_human |
Hgene | COL3A1 | C0016059 | Fibrosis | 1 | CTD_human |
Hgene | COL3A1 | C0020443 | Hypercholesterolemia | 1 | CTD_human |
Hgene | COL3A1 | C0020456 | Hyperglycemia | 1 | CTD_human |
Hgene | COL3A1 | C0020459 | Hyperinsulinism | 1 | CTD_human |
Hgene | COL3A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
Hgene | COL3A1 | C0022548 | Keloid | 1 | CTD_human |
Hgene | COL3A1 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
Hgene | COL3A1 | C0023895 | Liver diseases | 1 | CTD_human |
Hgene | COL3A1 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Hgene | COL3A1 | C0036341 | Schizophrenia | 1 | CTD_human |
Hgene | COL3A1 | C0041956 | Ureteral obstruction | 1 | CTD_human |
Hgene | COL3A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
Hgene | COL3A1 | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 1 | CTD_human |
Hgene | COL3A1 | C0268337 | Ehlers-Danlos syndrome, type 3 (disorder) | 1 | CTD_human;UNIPROT |
Hgene | COL3A1 | C0553980 | Endomyocardial Fibrosis | 1 | CTD_human |
Hgene | COL3A1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |