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Fusion gene ID: 7863 |
FusionGeneSummary for COL1A1_AEBP1 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_COL1A1_ENST00000225964_chr17_48273845_-_AEBP1_ENST00000223357_chr7_44151741_+_781aa MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGE CCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGF SGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGSEFGNWALGLWTEEGFDIFEDFPDLNSVLWGAEERKWVPYRVPNNNLPIPERYLSPDA TVSTEVRAIIAWMEKNPFVLGANLNGGERLVSYPYDMARTPTQEQLLAAAMAAARGEDEDEVSEAQETPDHAIFRWLAISFASAHLTLTE PYRGGCQAQDYTGGMGIVNGAKWNPRTGTINDFSYLHTNCLELSFYLGCDKFPHESELPREWENNKEALLTFMEQVHRGIKGVVTDEQGI PIANATISVSGINHGVKTASGGDYWRILNPGEYRVTAHAEGYTPSAKTCNVDYDIGATQCNFILARSNWKRIREIMAMNGNRPIPHIDPS 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 |
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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 |
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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 |
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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 |
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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 COL1A1_AEBP1 |
![]() (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 |
![]() (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 |