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Fusion gene ID: 7863 |
FusionGeneSummary for COL1A1_AEBP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL1A1_AEBP1 | Fusion gene ID: 7863 | Hgene | Tgene | Gene symbol | COL1A1 | AEBP1 | Gene ID | 1277 | 165 |
| Gene name | collagen type I alpha 1 chain | AE binding protein 1 | |
| Synonyms | EDSARTH1|EDSC|OI1|OI2|OI3|OI4 | ACLP | |
| Cytomap | 17q21.33 | 7p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I pro | adipocyte enhancer-binding protein 1aortic carboxypeptidase-like protein | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P02452 | Q8IUX7 | |
| Ensembl transtripts involved in fusion gene | ENST00000225964, | ENST00000223357, ENST00000454218, ENST00000450684, | |
| Fusion gene scores | * DoF score | 28 X 47 X 4=5264 | 4 X 4 X 3=48 |
| # samples | 52 | 4 | |
| ** MAII score | log2(52/5264*10)=-3.33957596070679 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: COL1A1 [Title/Abstract] AND AEBP1 [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 |
| Hgene | COL1A1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 20018240 |
| Hgene | COL1A1 | GO:0030335 | positive regulation of cell migration | 20018240 |
| Hgene | COL1A1 | GO:0034504 | protein localization to nucleus | 20018240 |
| Hgene | COL1A1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20018240 |
| Hgene | COL1A1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 20018240 |
| 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 |
| TCGA | LD | BRCA | TCGA-AR-A250-01A | COL1A1 | chr17 | 48273845 | - | AEBP1 | chr7 | 44151741 | + |
| * 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 |
| In-frame | ENST00000225964 | ENST00000223357 | COL1A1 | chr17 | 48273845 | - | AEBP1 | chr7 | 44151741 | + |
| 5CDS-intron | ENST00000225964 | ENST00000454218 | COL1A1 | chr17 | 48273845 | - | AEBP1 | chr7 | 44151741 | + |
| 5CDS-intron | ENST00000225964 | ENST00000450684 | COL1A1 | chr17 | 48273845 | - | AEBP1 | chr7 | 44151741 | + |
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FusionProtFeatures for COL1A1_AEBP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COL1A1 | AEBP1 |
| May positively regulate MAP-kinase activity inadipocytes, leading to enhanced adipocyte proliferation andreduced adipocyte differentiation. May also positively regulateNF-kappa-B activity in macrophages by promoting thephosphorylation and subsequent degradation of I-kappa-B-alpha(NFKBIA), leading to enhanced macrophage inflammatoryresponsiveness. Can act as a transcriptional repressor.{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 |
| Hgene | COL1A1 | chr17:48273845 | chr7:44151741 | ENST00000225964 | - | 13 | 51 | 38_96 | 301 | 1465 | Domain | VWFC |
| Hgene | COL1A1 | chr17:48273845 | chr7:44151741 | ENST00000225964 | - | 13 | 51 | 162_178 | 301 | 1465 | Region | Note=Nonhelical region (N-terminal) |
| Tgene | >AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000223357 | + | 15 | 21 | 1079_1136 | 679 | 1159 | Compositional bias | Note=Glu-rich |
| Tgene | >AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000450684 | + | 2 | 8 | 1079_1136 | 254 | 734 | Compositional bias | Note=Glu-rich |
| Tgene | >AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000450684 | + | 2 | 8 | 383_540 | 254 | 734 | Domain | F5/8 type C |
| Tgene | >AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000223357 | + | 15 | 21 | 941_1158 | 679 | 1159 | Region | Required for transcriptional repression |
| Tgene | >AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000450684 | + | 2 | 8 | 941_1158 | 254 | 734 | Region | Required for transcriptional repression |
| - 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 |
| Hgene | >COL1A1 | chr17:48273845 | chr7:44151741 | ENST00000225964 | - | 13 | 51 | 1229_1464 | 301 | 1465 | Domain | Fibrillar collagen NC1 |
| Hgene | >COL1A1 | chr17:48273845 | chr7:44151741 | ENST00000225964 | - | 13 | 51 | 1093_1095 | 301 | 1465 | Motif | Cell attachment site |
| Hgene | >COL1A1 | chr17:48273845 | chr7:44151741 | ENST00000225964 | - | 13 | 51 | 745_747 | 301 | 1465 | Motif | Cell attachment site |
| Hgene | >COL1A1 | chr17:48273845 | chr7:44151741 | ENST00000225964 | - | 13 | 51 | 1193_1218 | 301 | 1465 | Region | Note=Nonhelical region (C-terminal) |
| Hgene | >COL1A1 | chr17:48273845 | chr7:44151741 | ENST00000225964 | - | 13 | 51 | 179_1192 | 301 | 1465 | Region | Note=Triple-helical region |
| Tgene | AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000223357 | + | 15 | 21 | 47_326 | 679 | 1159 | Compositional bias | Note=Pro-rich |
| Tgene | AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000450684 | + | 2 | 8 | 47_326 | 254 | 734 | Compositional bias | Note=Pro-rich |
| Tgene | AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000223357 | + | 15 | 21 | 383_540 | 679 | 1159 | Domain | F5/8 type C |
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FusionGeneSequence for COL1A1_AEBP1 |
| 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. |
| >In-frame_COL1A1_ENST00000225964_chr17_48273845_-_AEBP1_ENST00000223357_chr7_44151741_+_781aa MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSTGTDEKSTGGISVPGP MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGSEFGNWALGLWTEEGFDIFEDFPDLNSVLWGAEERKWVPYRVPNNNLPIPERYLSPDA TVSTEVRAIIAWMEKNPFVLGANLNGGERLVSYPYDMARTPTQEQLLAAAMAAARGEDEDEVSEAQETPDHAIFRWLAISFASAHLTLTE PYRGGCQAQDYTGGMGIVNGAKWNPRTGTINDFSYLHTNCLELSFYLGCDKFPHESELPREWENNKEALLTFMEQVHRGIKGVVTDEQGI PIANATISVSGINHGVKTASGGDYWRILNPGEYRVTAHAEGYTPSAKTCNVDTDIGATQCNFILARSNWKRIREIMAMNGNRPIPHIDPS RPMTPQQRRLQQRRLQHRLRLRAQMRLRRLNATTTLGPHTVPPTLPPAPATTLSTTIEPWGLIPPTTAGWEESETETYTEVVTEFGTEVE |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_COL1A1_ENST00000225964_chr17_48273845_-_AEBP1_ENST00000223357_chr7_44151741_+_2343nt ATGTTCAGCTTTGTGGACCTCCGGCTCCTGCTCCTCTTAGCGGCCACCGCCCTCCTGACGCACGGCCAAGAGGAAGGCCAAGTCGAGGGC CAAGACGAAGACATCCCACCAATCACCTGCGTACAGAACGGCCTCAGGTACCATGACCGAGACGTGTGGAAACCCGAGCCCTGCCGGATC TGCGTCTGCGACAACGGCAAGGTGTTGTGCGATGACGTGATCTGTGACGAGACCAAGAACTGCCCCGGCGCCGAAGTCCCCGAGGGCGAG TGCTGTCCCGTCTGCCCCGACGGCTCAGAGTCACCCACCGACCAAGAAACCACCGGCGTCGAGGGACCCAAGGGAGACACTGGCCCCCGA GGCCCAAGGGGACCCGCAGGCCCCCCTGGCCGAGATGGCATCCCTGGACAGCCTGGACTTCCCGGACCCCCCGGACCCCCCGGACCTCCC GGACCCCCTGGCCTCGGAGGAAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCC ATGGGTCCCTCTGGTCCTCGTGGTCTCCCTGGCCCCCCTGGTGCACCTGGTCCCCAAGGCTTCCAAGGTCCCCCTGGTGAGCCTGGCGAG CCTGGAGCTTCAGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAGATGATGGGGAAGCTGGAAAACCTGGTCGT CCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGAGGTTTC AGTGGTTTGGATGGTGCCAAGGGAGATGCTGGTCCTGCTGGTCCTAAGGGTGAGCCTGGCAGCCCTGGTGAAAATGGAGCTCCTGGTCAG ATGGGCTCAGAGTTTGGGAACTGGGCGCTGGGACTGTGGACTGAGGAGGGCTTTGACATCTTTGAAGATTTCCCGGATCTCAACTCTGTG CTCTGGGGAGCTGAGGAGAGGAAATGGGTCCCCTACCGGGTCCCCAACAATAACTTGCCCATCCCTGAACGCTACCTTTCGCCAGATGCC ACGGTATCCACGGAGGTCCGGGCCATCATTGCCTGGATGGAGAAGAACCCCTTCGTGCTGGGAGCAAATCTGAACGGCGGCGAGCGGCTA GTATCCTACCCCTACGATATGGCCCGCACGCCTACCCAGGAGCAGCTGCTGGCCGCAGCCATGGCAGCAGCCCGGGGGGAGGATGAGGAC GAGGTCTCCGAGGCCCAGGAGACTCCAGACCACGCCATCTTCCGGTGGCTTGCCATCTCCTTCGCCTCCGCACACCTCACCTTGACCGAG CCCTACCGCGGAGGCTGCCAAGCCCAGGACTACACCGGCGGCATGGGCATCGTCAACGGGGCCAAGTGGAACCCCCGGACCGGGACTATC AATGACTTCAGTTACCTGCATACCAACTGCCTGGAGCTCTCCTTCTACCTGGGCTGTGACAAGTTCCCTCATGAGAGTGAGCTGCCCCGC GAGTGGGAGAACAACAAGGAGGCGCTGCTCACCTTCATGGAGCAGGTGCACCGCGGCATTAAGGGGGTGGTGACGGACGAGCAAGGCATC CCCATTGCCAACGCCACCATCTCTGTGAGTGGCATTAATCACGGCGTGAAGACAGCCAGTGGTGGTGATTACTGGCGAATCTTGAACCCG GGTGAGTACCGCGTGACAGCCCACGCGGAGGGCTACACCCCGAGCGCCAAGACCTGCAATGTTGACTATGACATCGGGGCCACTCAGTGC AACTTCATCCTGGCTCGCTCCAACTGGAAGCGCATCCGGGAGATCATGGCCATGAACGGGAACCGGCCTATCCCACACATAGACCCATCG CGCCCTATGACCCCCCAACAGCGACGCCTGCAGCAGCGACGCCTACAACACCGCCTGCGGCTTCGGGCACAGATGCGGCTGCGGCGCCTC AACGCCACCACCACCCTAGGCCCCCACACTGTGCCTCCCACGCTGCCCCCTGCCCCTGCCACCACCCTGAGCACTACCATAGAGCCCTGG GGCCTCATACCGCCAACCACCGCTGGCTGGGAGGAGTCGGAGACTGAGACCTACACAGAGGTGGTGACAGAGTTTGGGACCGAGGTGGAG CCCGAGTTTGGGACCAAGGTGGAGCCCGAGTTTGAGACCCAGTTGGAGCCTGAGTTTGAGACCCAGCTGGAACCCGAGTTTGAGGAAGAG GAGGAGGAGGAGAAAGAGGAGGAGATAGCCACTGGCCAGGCATTCCCCTTCACAACAGTAGAGACCTACACAGTGAACTTTGGGGACTTC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_COL1A1_ENST00000225964_chr17_48273845_-_AEBP1_ENST00000223357_chr7_44151741_+_2761nt AGCAGACGGGAGTTTCTCCTCGGGGTCGGAGCAGGAGGCACGCGGAGTGTGAGGCCACGCATGAGCGGACGCTAACCCCCTCCCCAGCCA CAAAGAGTCTACATGTCTAGGGTCTAGACATGTTCAGCTTTGTGGACCTCCGGCTCCTGCTCCTCTTAGCGGCCACCGCCCTCCTGACGC ACGGCCAAGAGGAAGGCCAAGTCGAGGGCCAAGACGAAGACATCCCACCAATCACCTGCGTACAGAACGGCCTCAGGTACCATGACCGAG ACGTGTGGAAACCCGAGCCCTGCCGGATCTGCGTCTGCGACAACGGCAAGGTGTTGTGCGATGACGTGATCTGTGACGAGACCAAGAACT GCCCCGGCGCCGAAGTCCCCGAGGGCGAGTGCTGTCCCGTCTGCCCCGACGGCTCAGAGTCACCCACCGACCAAGAAACCACCGGCGTCG AGGGACCCAAGGGAGACACTGGCCCCCGAGGCCCAAGGGGACCCGCAGGCCCCCCTGGCCGAGATGGCATCCCTGGACAGCCTGGACTTC CCGGACCCCCCGGACCCCCCGGACCTCCCGGACCCCCTGGCCTCGGAGGAAACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAAT CAACCGGAGGAATTTCCGTGCCTGGCCCCATGGGTCCCTCTGGTCCTCGTGGTCTCCCTGGCCCCCCTGGTGCACCTGGTCCCCAAGGCT TCCAAGGTCCCCCTGGTGAGCCTGGCGAGCCTGGAGCTTCAGGTCCCATGGGTCCCCGAGGTCCCCCAGGTCCCCCTGGAAAGAATGGAG ATGATGGGGAAGCTGGAAAACCTGGTCGTCCTGGTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCC TCCCTGGAATGAAGGGACACAGAGGTTTCAGTGGTTTGGATGGTGCCAAGGGAGATGCTGGTCCTGCTGGTCCTAAGGGTGAGCCTGGCA GCCCTGGTGAAAATGGAGCTCCTGGTCAGATGGGCTCAGAGTTTGGGAACTGGGCGCTGGGACTGTGGACTGAGGAGGGCTTTGACATCT TTGAAGATTTCCCGGATCTCAACTCTGTGCTCTGGGGAGCTGAGGAGAGGAAATGGGTCCCCTACCGGGTCCCCAACAATAACTTGCCCA TCCCTGAACGCTACCTTTCGCCAGATGCCACGGTATCCACGGAGGTCCGGGCCATCATTGCCTGGATGGAGAAGAACCCCTTCGTGCTGG GAGCAAATCTGAACGGCGGCGAGCGGCTAGTATCCTACCCCTACGATATGGCCCGCACGCCTACCCAGGAGCAGCTGCTGGCCGCAGCCA TGGCAGCAGCCCGGGGGGAGGATGAGGACGAGGTCTCCGAGGCCCAGGAGACTCCAGACCACGCCATCTTCCGGTGGCTTGCCATCTCCT TCGCCTCCGCACACCTCACCTTGACCGAGCCCTACCGCGGAGGCTGCCAAGCCCAGGACTACACCGGCGGCATGGGCATCGTCAACGGGG CCAAGTGGAACCCCCGGACCGGGACTATCAATGACTTCAGTTACCTGCATACCAACTGCCTGGAGCTCTCCTTCTACCTGGGCTGTGACA AGTTCCCTCATGAGAGTGAGCTGCCCCGCGAGTGGGAGAACAACAAGGAGGCGCTGCTCACCTTCATGGAGCAGGTGCACCGCGGCATTA AGGGGGTGGTGACGGACGAGCAAGGCATCCCCATTGCCAACGCCACCATCTCTGTGAGTGGCATTAATCACGGCGTGAAGACAGCCAGTG GTGGTGATTACTGGCGAATCTTGAACCCGGGTGAGTACCGCGTGACAGCCCACGCGGAGGGCTACACCCCGAGCGCCAAGACCTGCAATG TTGACTATGACATCGGGGCCACTCAGTGCAACTTCATCCTGGCTCGCTCCAACTGGAAGCGCATCCGGGAGATCATGGCCATGAACGGGA ACCGGCCTATCCCACACATAGACCCATCGCGCCCTATGACCCCCCAACAGCGACGCCTGCAGCAGCGACGCCTACAACACCGCCTGCGGC TTCGGGCACAGATGCGGCTGCGGCGCCTCAACGCCACCACCACCCTAGGCCCCCACACTGTGCCTCCCACGCTGCCCCCTGCCCCTGCCA CCACCCTGAGCACTACCATAGAGCCCTGGGGCCTCATACCGCCAACCACCGCTGGCTGGGAGGAGTCGGAGACTGAGACCTACACAGAGG TGGTGACAGAGTTTGGGACCGAGGTGGAGCCCGAGTTTGGGACCAAGGTGGAGCCCGAGTTTGAGACCCAGTTGGAGCCTGAGTTTGAGA CCCAGCTGGAACCCGAGTTTGAGGAAGAGGAGGAGGAGGAGAAAGAGGAGGAGATAGCCACTGGCCAGGCATTCCCCTTCACAACAGTAG AGACCTACACAGTGAACTTTGGGGACTTCTGAGATCAGCGTCCTACCAAGACCCCAGCCCAACTCAAGCTACAGCAGCAGCACTTCCCAA GCCTGCTGACCACAGTCACATCACCCATCAGCACATGGAAGGCCCCTGGTATGGACACTGAAAGGAAGGGCTGGTCCTGCCCCTTTGAGG GGGTGCAAACATGACTGGGACCTAAGAGCCAGAGGCTGTGTAGAGGCTCCTGCTCCACCTGCCAGTCTCGTAAGAGATGGGGTTGCTGCA |
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FusionGenePPI for COL1A1_AEBP1 |
| 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 |
| COL1A1 | IGFBP3, TXN, ITGA2, ITGB1, NID1, NID2, SPARC, PRELP, PKD1, VWF, THBS1, MMP2, COL7A1, MATN2, MAG, ELAVL1, ATP13A2, C12orf57, RNH1, BARD1, BRCA1, UBC, CAPN1, COL1A1, COL1A2, PDGFA, PDGFB, GIPC2, UBXN11, DNM3, CD200R1, TMTC4, ERAL1, CAMKMT, TMEM180, OTUB1, EGFR, COLGALT2, P4HA2, PLOD1, LIN9, TIMM44, RASGEF1B, TLE3, YAF2, LPAR1, CYLD, MCPH1 | AEBP1 | GRB2 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| Tgene | AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000223357 | + | 15 | 21 | 1006_1158 | 679 | 1159 | MAPK1 and MAPK3 |
| Tgene | AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000450684 | + | 2 | 8 | 1006_1158 | 254 | 734 | MAPK1 and MAPK3 |
| Tgene | AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000450684 | + | 2 | 8 | 421_624 | 254 | 734 | MAPK1 and MAPK3 |
| Tgene | AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000450684 | + | 2 | 8 | 555_985 | 254 | 734 | PTEN |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Tgene | AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000223357 | + | 15 | 21 | 421_624 | 679 | 1159 | MAPK1 and MAPK3 |
| Tgene | AEBP1 | chr17:48273845 | chr7:44151741 | ENST00000223357 | + | 15 | 21 | 555_985 | 679 | 1159 | PTEN |
| - 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 COL1A1_AEBP1 |
| 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 |
| Hgene | COL1A1 | P02452 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-1(I) chain | biotech | approved|investigational |
| Hgene | COL1A1 | P02452 | DB13133 | Von Willebrand Factor Human | Collagen alpha-1(I) chain | biotech | approved|investigational |
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RelatedDiseases for COL1A1_AEBP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COL1A1 | C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 39 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL1A1 | C0268362 | Osteogenesis imperfecta type III (disorder) | 18 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL1A1 | C0268363 | Osteogenesis imperfecta type IV (disorder) | 14 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL1A1 | C0023931 | Lobstein's Disease | 12 | ORPHANET;UNIPROT |
| Hgene | COL1A1 | C0023890 | Liver Cirrhosis | 4 | CTD_human |
| Hgene | COL1A1 | C0023893 | Liver Cirrhosis, Experimental | 3 | CTD_human |
| Hgene | COL1A1 | C4225429 | Ehlers-Danlos syndrome classic type | 2 | UNIPROT |
| Hgene | COL1A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | COL1A1 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
| Hgene | COL1A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
| Hgene | COL1A1 | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| Hgene | COL1A1 | C0006663 | Calcinosis | 1 | CTD_human |
| Hgene | COL1A1 | C0008311 | Cholangitis | 1 | CTD_human |
| Hgene | COL1A1 | C0016059 | Fibrosis | 1 | CTD_human |
| Hgene | COL1A1 | C0018824 | Heart valve disease | 1 | CTD_human |
| Hgene | COL1A1 | C0020497 | Cortical Congenital Hyperostosis | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL1A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | COL1A1 | C0022548 | Keloid | 1 | CTD_human |
| Hgene | COL1A1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
| Hgene | COL1A1 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
| Hgene | COL1A1 | C0029434 | Osteogenesis Imperfecta | 1 | CTD_human |
| Hgene | COL1A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Hgene | COL1A1 | C1619692 | Nephrogenic Fibrosing Dermopathy | 1 | CTD_human |
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