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Fusion gene ID: 7842 |
FusionGeneSummary for COL12A1_TAGLN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL12A1_TAGLN | Fusion gene ID: 7842 | Hgene | Tgene | Gene symbol | COL12A1 | TAGLN | Gene ID | 1303 | 6876 |
| Gene name | collagen type XII alpha 1 chain | transgelin | |
| Synonyms | BA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2 | SM22|SM22-alpha|SMCC|TAGLN1|WS3-10 | |
| Cytomap | 6q13-q14.1 | 11q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen alpha-1(XII) chaincollagen type XII proteoglycancollagen, type XII, alpha 1 | transgelin22 kDa actin-binding proteinsmooth muscle protein 22-alphatransgelin variant 2 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q99715 | Q01995 | |
| Ensembl transtripts involved in fusion gene | ENST00000322507, ENST00000345356, ENST00000416123, ENST00000483888, ENST00000511023, | ENST00000392951, ENST00000530649, ENST00000532870, | |
| Fusion gene scores | * DoF score | 4 X 6 X 2=48 | 8 X 13 X 4=416 |
| # samples | 6 | 16 | |
| ** MAII score | log2(6/48*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(16/416*10)=-1.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: COL12A1 [Title/Abstract] AND TAGLN [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 | TAGLN | GO:0030855 | epithelial cell differentiation | 21492153 |
| 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 | BU945056 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| * 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 |
| intron-3CDS | ENST00000322507 | ENST00000392951 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000322507 | ENST00000530649 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000322507 | ENST00000532870 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000345356 | ENST00000392951 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000345356 | ENST00000530649 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000345356 | ENST00000532870 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000416123 | ENST00000392951 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000416123 | ENST00000530649 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000416123 | ENST00000532870 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000483888 | ENST00000392951 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000483888 | ENST00000530649 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000483888 | ENST00000532870 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000511023 | ENST00000392951 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000511023 | ENST00000530649 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
| intron-3CDS | ENST00000511023 | ENST00000532870 | COL12A1 | chr6 | 75797391 | - | TAGLN | chr11 | 117075021 | + |
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FusionProtFeatures for COL12A1_TAGLN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COL12A1 | TAGLN |
| Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with thesurface of the fibrils, and the COL2 and NC3 domains may belocalized in the perifibrillar matrix. {ECO:0000250}. | Actin cross-linking/gelling protein (By similarity).Involved in calcium interactions and contractile properties of thecell that may contribute to replicative senescence. {ECO:0000250}. |
| 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 COL12A1_TAGLN |
| 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 COL12A1_TAGLN |
| 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 COL12A1_TAGLN |
| 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 COL12A1_TAGLN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COL12A1 | C4225313 | BETHLEM MYOPATHY 2 | 2 | UNIPROT |
| Hgene | COL12A1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | COL12A1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Tgene | TAGLN | C0023794 | Lipoidosis | 3 | CTD_human |
| Tgene | TAGLN | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | TAGLN | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | TAGLN | C0022548 | Keloid | 1 | CTD_human |
| Tgene | TAGLN | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
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