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Fusion gene ID: 8003 |
FusionGeneSummary for COL6A3_PICALM |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL6A3_PICALM | Fusion gene ID: 8003 | Hgene | Tgene | Gene symbol | COL6A3 | PICALM | Gene ID | 1293 | 8301 |
| Gene name | collagen type VI alpha 3 chain | phosphatidylinositol binding clathrin assembly protein | |
| Synonyms | BTHLM1|DYT27|UCMD1 | CALM|CLTH|LAP | |
| Cytomap | 2q37.3 | 11q14.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen alpha-3(VI) chaincollagen VI, alpha-3 polypeptidecollagen, type VI, alpha 3 | phosphatidylinositol-binding clathrin assembly proteinclathrin assembly lymphoid myeloid leukemia protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P12111 | Q13492 | |
| Ensembl transtripts involved in fusion gene | ENST00000347401, ENST00000353578, ENST00000295550, ENST00000472056, ENST00000409809, ENST00000346358, ENST00000392004, ENST00000392003, ENST00000473258, | ENST00000532317, ENST00000526033, ENST00000393346, ENST00000528398, ENST00000356360, ENST00000528411, | |
| Fusion gene scores | * DoF score | 8 X 8 X 2=128 | 7 X 12 X 4=336 |
| # samples | 10 | 14 | |
| ** MAII score | log2(10/128*10)=-0.356143810225275 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/336*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: COL6A3 [Title/Abstract] AND PICALM [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 | PICALM | GO:0006898 | receptor-mediated endocytosis | 10436022 |
| Tgene | PICALM | GO:0032880 | regulation of protein localization | 10436022 |
| Tgene | PICALM | GO:0045893 | positive regulation of transcription, DNA-templated | 11425879 |
| Tgene | PICALM | GO:0048261 | negative regulation of receptor-mediated endocytosis | 10436022 |
| 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 | DA556762 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| * 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 | ENST00000347401 | ENST00000532317 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000347401 | ENST00000526033 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000347401 | ENST00000393346 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000347401 | ENST00000528398 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000347401 | ENST00000356360 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| 5CDS-intron | ENST00000347401 | ENST00000528411 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000353578 | ENST00000532317 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000353578 | ENST00000526033 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000353578 | ENST00000393346 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000353578 | ENST00000528398 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000353578 | ENST00000356360 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| 5CDS-intron | ENST00000353578 | ENST00000528411 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000295550 | ENST00000532317 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000295550 | ENST00000526033 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000295550 | ENST00000393346 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000295550 | ENST00000528398 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000295550 | ENST00000356360 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| 5CDS-intron | ENST00000295550 | ENST00000528411 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000472056 | ENST00000532317 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000472056 | ENST00000526033 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000472056 | ENST00000393346 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000472056 | ENST00000528398 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000472056 | ENST00000356360 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| 5CDS-intron | ENST00000472056 | ENST00000528411 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000409809 | ENST00000532317 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000409809 | ENST00000526033 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000409809 | ENST00000393346 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000409809 | ENST00000528398 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000409809 | ENST00000356360 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| 5CDS-intron | ENST00000409809 | ENST00000528411 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000346358 | ENST00000532317 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000346358 | ENST00000526033 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000346358 | ENST00000393346 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000346358 | ENST00000528398 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000346358 | ENST00000356360 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| 5CDS-intron | ENST00000346358 | ENST00000528411 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000392004 | ENST00000532317 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000392004 | ENST00000526033 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000392004 | ENST00000393346 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000392004 | ENST00000528398 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000392004 | ENST00000356360 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| 5CDS-intron | ENST00000392004 | ENST00000528411 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000392003 | ENST00000532317 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000392003 | ENST00000526033 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000392003 | ENST00000393346 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000392003 | ENST00000528398 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| Frame-shift | ENST00000392003 | ENST00000356360 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| 5CDS-intron | ENST00000392003 | ENST00000528411 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| intron-3CDS | ENST00000473258 | ENST00000532317 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| intron-3CDS | ENST00000473258 | ENST00000526033 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| intron-3CDS | ENST00000473258 | ENST00000393346 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| intron-3CDS | ENST00000473258 | ENST00000528398 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| intron-3CDS | ENST00000473258 | ENST00000356360 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
| intron-intron | ENST00000473258 | ENST00000528411 | COL6A3 | chr2 | 238305369 | - | PICALM | chr11 | 85695019 | - |
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FusionProtFeatures for COL6A3_PICALM |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COL6A3 | PICALM |
| Assembly protein recruiting clathrin and adapter proteincomplex 2 (AP2) to cell membranes at sites of coated-pit formationand clathrin-vesicle assembly. May be required to determine theamount of membrane to be recycled, possibly by regulating the sizeof the clathrin cage. Involved in AP2-dependent clathrin-mediatedendocytosis at the neuromuscular junction.{ECO:0000269|PubMed:10436022}. |
| 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 COL6A3_PICALM |
| 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 COL6A3_PICALM |
| 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 |
| COL6A3 | GAN | PICALM | PLCG1, CLTC, ITSN1, AP2A1, HIP1R, LAMTOR3, EEF1A1, SEC24D, DNM2, EGFR, FLOT1, SEC24C, ATP6V1E1, ILF3, HNRNPDL, SH3GLB2, ABCC2, ATP6V1F, CD55, SIRT1, FN1, VCAM1, ITGA4, PELI2, KLHL20, SLC25A41, ITLN1, ATF6B, SLC25A32, SOX2, FAM64A, CYP1A1, HNRNPA1, UNK, NTRK1, C14orf166, CARS, CPPED1, HNRNPD, ILVBL, ITGB1, LPP, PAPOLA, DDX1, EWSR1, FERMT2, FUS, ILK, NPLOC4, PFKM, PTPRF, VCL, PXN, STXBP1, TRIM25, UNC13D, XPO1, AP2B1, AP2M1, CLTA, CLTB, DAB2, EPS15, GAK, MYO6, PIK3C2A, SEC13, CLTCL1, CAPZA2, DBN1, MYH9, LIMA1, GTSE1, ANLN, MYO19, MYO18A, CLINT1, SEC16A, TNRC6A, BMP2K, MICAL3, DENND1A, WNK1, PRRC2B, STON2, FCHO2, MCM2, SNW1, CDC5L, SMURF1, CDH1, STAMBPL1, RALBP1, SNRNP27, DLST |
| - 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 COL6A3_PICALM |
| 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 COL6A3_PICALM |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COL6A3 | C1834674 | Bethlem myopathy | 4 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL6A3 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | COL6A3 | C0410179 | Scleroatonic muscular dystrophy | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL6A3 | C4225336 | DYSTONIA 27 | 1 | ORPHANET;UNIPROT |
| Tgene | PICALM | C0002395 | Alzheimer's Disease | 2 | CTD_human |
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