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Fusion gene ID: 15493 |
FusionGeneSummary for GRSF1_COL3A1 |
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Fusion gene information | Fusion gene name: GRSF1_COL3A1 | Fusion gene ID: 15493 | Hgene | Tgene | Gene symbol | GRSF1 | COL3A1 | Gene ID | 2926 | 1281 |
Gene name | G-rich RNA sequence binding factor 1 | collagen type III alpha 1 chain | |
Synonyms | - | EDS4A|EDSVASC | |
Cytomap | 4q13.3 | 2q32.2 | |
Type of gene | protein-coding | protein-coding | |
Description | G-rich sequence factor 1GRSF-1 | collagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q12849 | P02461 | |
Ensembl transtripts involved in fusion gene | ENST00000254799, ENST00000439371, ENST00000502323, ENST00000545193, ENST00000508091, | ENST00000304636, ENST00000317840, | |
Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 13 X 17 X 4=884 |
# samples | 4 | 17 | |
** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(17/884*10)=-2.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: GRSF1 [Title/Abstract] AND COL3A1 [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 |
Tgene | COL3A1 | GO:0007160 | cell-matrix adhesion | 16912226 |
Tgene | COL3A1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 16360482 |
Tgene | COL3A1 | GO:0009314 | response to radiation | 14736764 |
Tgene | COL3A1 | GO:0018149 | peptide cross-linking | 16754721 |
Tgene | COL3A1 | GO:0034097 | response to cytokine | 9076960|16360482 |
Tgene | COL3A1 | GO:0042060 | wound healing | 1466622 |
![]() (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 | AW081998 | GRSF1 | chr4 | 71686580 | + | COL3A1 | chr2 | 189857667 | - |
* 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 |
intron-intron | ENST00000254799 | ENST00000304636 | GRSF1 | chr4 | 71686580 | + | COL3A1 | chr2 | 189857667 | - |
intron-intron | ENST00000254799 | ENST00000317840 | GRSF1 | chr4 | 71686580 | + | COL3A1 | chr2 | 189857667 | - |
intron-intron | ENST00000439371 | ENST00000304636 | GRSF1 | chr4 | 71686580 | + | COL3A1 | chr2 | 189857667 | - |
intron-intron | ENST00000439371 | ENST00000317840 | GRSF1 | chr4 | 71686580 | + | COL3A1 | chr2 | 189857667 | - |
intron-intron | ENST00000502323 | ENST00000304636 | GRSF1 | chr4 | 71686580 | + | COL3A1 | chr2 | 189857667 | - |
intron-intron | ENST00000502323 | ENST00000317840 | GRSF1 | chr4 | 71686580 | + | COL3A1 | chr2 | 189857667 | - |
intron-intron | ENST00000545193 | ENST00000304636 | GRSF1 | chr4 | 71686580 | + | COL3A1 | chr2 | 189857667 | - |
intron-intron | ENST00000545193 | ENST00000317840 | GRSF1 | chr4 | 71686580 | + | COL3A1 | chr2 | 189857667 | - |
intron-intron | ENST00000508091 | ENST00000304636 | GRSF1 | chr4 | 71686580 | + | COL3A1 | chr2 | 189857667 | - |
intron-intron | ENST00000508091 | ENST00000317840 | GRSF1 | chr4 | 71686580 | + | COL3A1 | chr2 | 189857667 | - |
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FusionProtFeatures for GRSF1_COL3A1 |
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Hgene | Tgene |
GRSF1 | COL3A1 |
Regulator of post-transcriptional mitochondrial geneexpression, required for assembly of the mitochondrial ribosomeand for recruitment of mRNA and lncRNA. Binds RNAs containing the14 base G-rich element. Preferentially binds RNAs transcribed fromthree contiguous genes on the light strand of mtDNA, the ND6 mRNA,and the long non-coding RNAs for MT-CYB and MT-ND5, each of whichcontains multiple consensus binding sequences.{ECO:0000269|PubMed:23473033, ECO:0000269|PubMed:23473034}. |
![]() * 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 GRSF1_COL3A1 |
![]() (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 GRSF1_COL3A1 |
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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 GRSF1_COL3A1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | COL3A1 | P02461 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-1(III) chain | biotech | approved|investigational |
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RelatedDiseases for GRSF1_COL3A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | COL3A1 | C0268338 | Ehlers-Danlos Syndrome, Type IV | 23 | ORPHANET;UNIPROT |
Tgene | COL3A1 | C0023890 | Liver Cirrhosis | 5 | CTD_human |
Tgene | COL3A1 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
Tgene | COL3A1 | C1853365 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 | 2 | ORPHANET;UNIPROT |
Tgene | COL3A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
Tgene | COL3A1 | C0015695 | Fatty Liver | 1 | CTD_human |
Tgene | COL3A1 | C0016059 | Fibrosis | 1 | CTD_human |
Tgene | COL3A1 | C0020443 | Hypercholesterolemia | 1 | CTD_human |
Tgene | COL3A1 | C0020456 | Hyperglycemia | 1 | CTD_human |
Tgene | COL3A1 | C0020459 | Hyperinsulinism | 1 | CTD_human |
Tgene | COL3A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
Tgene | COL3A1 | C0022548 | Keloid | 1 | CTD_human |
Tgene | COL3A1 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
Tgene | COL3A1 | C0023895 | Liver diseases | 1 | CTD_human |
Tgene | COL3A1 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Tgene | COL3A1 | C0036341 | Schizophrenia | 1 | CTD_human |
Tgene | COL3A1 | C0041956 | Ureteral obstruction | 1 | CTD_human |
Tgene | COL3A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
Tgene | COL3A1 | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 1 | CTD_human |
Tgene | COL3A1 | C0268337 | Ehlers-Danlos syndrome, type 3 (disorder) | 1 | CTD_human;UNIPROT |
Tgene | COL3A1 | C0553980 | Endomyocardial Fibrosis | 1 | CTD_human |
Tgene | COL3A1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |