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Fusion Protein:COL3A1-DYNC1H1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: COL3A1-DYNC1H1 | FusionPDB ID: 18299 | FusionGDB2.0 ID: 18299 | Hgene | Tgene | Gene symbol | COL3A1 | DYNC1H1 | Gene ID | 1281 | 1778 |
Gene name | collagen type III alpha 1 chain | dynein cytoplasmic 1 heavy chain 1 | |
Synonyms | EDS4A|EDSVASC|PMGEDSV | CMT2O|DHC1|DHC1a|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|SMALED1|p22 | |
Cytomap | 2q32.2 | 14q32.31 | |
Type of gene | protein-coding | protein-coding | |
Description | collagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1 | cytoplasmic dynein 1 heavy chain 1dynein heavy chain, cytosolicdynein, cytoplasmic, heavy polypeptide 1 | |
Modification date | 20200313 | 20200328 | |
UniProtAcc | P02461 | Q14204 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000304636, ENST00000317840, | ENST00000556791, ENST00000360184, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 46 X 40 X 15=27600 | 8 X 9 X 3=216 |
# samples | 56 | 9 | |
** MAII score | log2(56/27600*10)=-5.62309762960793 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/216*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: COL3A1 [Title/Abstract] AND DYNC1H1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | COL3A1(189875519)-DYNC1H1(102483567), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | COL3A1-DYNC1H1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. COL3A1-DYNC1H1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. COL3A1-DYNC1H1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. COL3A1-DYNC1H1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* 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 | COL3A1 | GO:0007160 | cell-matrix adhesion | 16912226 |
Hgene | COL3A1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 16360482 |
Hgene | COL3A1 | GO:0009314 | response to radiation | 14736764 |
Hgene | COL3A1 | GO:0018149 | peptide cross-linking | 16754721 |
Hgene | COL3A1 | GO:0034097 | response to cytokine | 9076960|16360482 |
Hgene | COL3A1 | GO:0042060 | wound healing | 1466622 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS5.0 | N/A | BE838936 | COL3A1 | chr2 | 189875519 | + | DYNC1H1 | chr14 | 102483567 | - |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000304636 | COL3A1 | chr2 | 189875519 | + | ENST00000360184 | DYNC1H1 | chr14 | 102483567 | - | 10456 | 4278 | 4210 | 10227 | 2005 |
ENST00000317840 | COL3A1 | chr2 | 189875519 | + | ENST00000360184 | DYNC1H1 | chr14 | 102483567 | - | 9494 | 3316 | 3248 | 9265 | 2005 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000304636 | ENST00000360184 | COL3A1 | chr2 | 189875519 | + | DYNC1H1 | chr14 | 102483567 | - | 0.01341805 | 0.9865819 |
ENST00000317840 | ENST00000360184 | COL3A1 | chr2 | 189875519 | + | DYNC1H1 | chr14 | 102483567 | - | 0.012752612 | 0.98724735 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >18299_18299_1_COL3A1-DYNC1H1_COL3A1_chr2_189875519_ENST00000304636_DYNC1H1_chr14_102483567_ENST00000360184_length(amino acids)=2005AA_BP=23 MKVNSRLKEIANSPTQFWRMVAREINLPDMDKYGTQRVISFIRQMVEHGGFYRTSDQTWVKLERIQFVGACNPPTDPGRKPLSHRFLRHV PVVYVDYPGPASLTQIYGTFNRAMLRLIPSLRTYAEPLTAAMVEFYTMSQERFTQDTQPHYIYSPREMTRWVRGIFEALRPLETLPVEGL IRIWAHEALRLFQDRLVEDEERRWTDENIDTVALKHFPNIDREKAMSRPILYSNWLSKDYIPVDQEELRDYVKARLKVFYEEELDVPLVL FNEVLDHVLRIDRIFRQPQGHLLLIGVSGAGKTTLSRFVAWMNGLSVYQIKVHRKYTGEDFDEDLRTVLRRSGCKNEKIAFIMDESNVLD SGFLERMNTLLANGEVPGLFEGDEYATLMTQCKEGAQKEGLMLDSHEELYKWFTSQVIRNLHVVFTMNPSSEGLKDRAATSPALFNRCVL NWFGDWSTEALYQVGKEFTSKMDLEKPNYIVPDYMPVVYDKLPQPPSHREAIVNSCVFVHQTLHQANARLAKRGGRTMAITPRHYLDFIN HYANLFHEKRSELEEQQMHLNVGLRKIKETVDQVEELRRDLRIKSQELEVKNAAANDKLKKMVKDQQEAEKKKVMSQEIQEQLHKQQEVI ADKQMSVKEDLDKVEPAVIEAQNAVKSIKKQHLVEVRSMANPPAAVKLALESICLLLGESTTDWKQIRSIIMRENFIPTIVNFSAEEISD AIREKMKKNYMSNPSYNYEIVNRASLACGPMVKWAIAQLNYADMLKRVEPLRNELQKLEDDAKDNQQKANEVEQMIRDLEASIARYKEEY AVLISEAQAIKADLAAVEAKVNRSTALLKSLSAERERWEKTSETFKNQMSTIAGDCLLSAAFIAYAGYFDQQMRQNLFTTWSHHLQQANI QFRTDIARTEYLSNADERLRWQASSLPADDLCTENAIMLKRFNRYPLIIDPSGQATEFIMNEYKDRKITRTSFLDDAFRKNLESALRFGN PLLVQDVESYDPVLNPVLNREVRRTGGRVLITLGDQDIDLSPSFVIFLSTRDPTVEFPPDLCSRVTFVNFTVTRSSLQSQCLNEVLKAER PDVDEKRSDLLKLQGEFQLRLRQLEKSLLQALNEVKGRILDDDTIITTLENLKREAAEVTRKVEETDIVMQEVETVSQQYLPLSTACSSI YFTMESLKQIHFLYQYSLQFFLDIYHNVLYENPNLKGVTDHTQRLSIITKDLFQVAFNRVARGMLHQDHITFAMLLARIKLKGTVGEPTY DAEFQHFLRGNEIVLSAGSTPRIQGLTVEQAEAVVRLSCLPAFKDLIAKVQADEQFGIWLDSSSPEQTVPYLWSEETPATPIGQAIHRLL LIQAFRPDRLLAMAHMFVSTNLGESFMSIMEQPLDLTHIVGTEVKPNTPVLMCSVPGYDASGHVEDLAAEQNTQITSIAIGSAEGFNQAD KAINTAVKSGRWVMLKNVHLAPGWLMQLEKKLHSLQPHACFRLFLTMEINPKVPVNLLRAGRIFVFEPPPGVKANMLRTFSSIPVSRICK SPNERARLYFLLAWFHAIIQERLRYAPLGWSKKYEFGESDLRSACDTVDTWLDDTAKGRQNISPDKIPWSALKTLMAQSIYGGRVDNEFD QRLLNTFLERLFTTRSFDSEFKLACKVDGHKDIQMPDGIRREEFVQWVELLPDTQTPSWLGLPNNAERVLLTTQGVDMISKMLKMQMLED EDDLAYAETEKKTRTDSTSDGRPAWMRTLHTTASNWLHLIPQTLSHLKRTVENIKDPLFRFFEREVKMGAKLLQDVRQDLADVVQVCEGK KKQTNYLRTLINELVKGILPRSWSHYTVPAGMTVIQWVSDFSERIKQLQNISLAAASGGAKELKNIHVCLGGLFVPEAYITATRQYVAQA NSWSLEELCLEVNVTTSQGATLDACSFGVTGLKLQGATCNNNKLSLSNAISTALPLTQLRWVKQTNTEKKASVVTLPVYLNFTRADLIFT -------------------------------------------------------------- >18299_18299_2_COL3A1-DYNC1H1_COL3A1_chr2_189875519_ENST00000317840_DYNC1H1_chr14_102483567_ENST00000360184_length(amino acids)=2005AA_BP=23 MKVNSRLKEIANSPTQFWRMVAREINLPDMDKYGTQRVISFIRQMVEHGGFYRTSDQTWVKLERIQFVGACNPPTDPGRKPLSHRFLRHV PVVYVDYPGPASLTQIYGTFNRAMLRLIPSLRTYAEPLTAAMVEFYTMSQERFTQDTQPHYIYSPREMTRWVRGIFEALRPLETLPVEGL IRIWAHEALRLFQDRLVEDEERRWTDENIDTVALKHFPNIDREKAMSRPILYSNWLSKDYIPVDQEELRDYVKARLKVFYEEELDVPLVL FNEVLDHVLRIDRIFRQPQGHLLLIGVSGAGKTTLSRFVAWMNGLSVYQIKVHRKYTGEDFDEDLRTVLRRSGCKNEKIAFIMDESNVLD SGFLERMNTLLANGEVPGLFEGDEYATLMTQCKEGAQKEGLMLDSHEELYKWFTSQVIRNLHVVFTMNPSSEGLKDRAATSPALFNRCVL NWFGDWSTEALYQVGKEFTSKMDLEKPNYIVPDYMPVVYDKLPQPPSHREAIVNSCVFVHQTLHQANARLAKRGGRTMAITPRHYLDFIN HYANLFHEKRSELEEQQMHLNVGLRKIKETVDQVEELRRDLRIKSQELEVKNAAANDKLKKMVKDQQEAEKKKVMSQEIQEQLHKQQEVI ADKQMSVKEDLDKVEPAVIEAQNAVKSIKKQHLVEVRSMANPPAAVKLALESICLLLGESTTDWKQIRSIIMRENFIPTIVNFSAEEISD AIREKMKKNYMSNPSYNYEIVNRASLACGPMVKWAIAQLNYADMLKRVEPLRNELQKLEDDAKDNQQKANEVEQMIRDLEASIARYKEEY AVLISEAQAIKADLAAVEAKVNRSTALLKSLSAERERWEKTSETFKNQMSTIAGDCLLSAAFIAYAGYFDQQMRQNLFTTWSHHLQQANI QFRTDIARTEYLSNADERLRWQASSLPADDLCTENAIMLKRFNRYPLIIDPSGQATEFIMNEYKDRKITRTSFLDDAFRKNLESALRFGN PLLVQDVESYDPVLNPVLNREVRRTGGRVLITLGDQDIDLSPSFVIFLSTRDPTVEFPPDLCSRVTFVNFTVTRSSLQSQCLNEVLKAER PDVDEKRSDLLKLQGEFQLRLRQLEKSLLQALNEVKGRILDDDTIITTLENLKREAAEVTRKVEETDIVMQEVETVSQQYLPLSTACSSI YFTMESLKQIHFLYQYSLQFFLDIYHNVLYENPNLKGVTDHTQRLSIITKDLFQVAFNRVARGMLHQDHITFAMLLARIKLKGTVGEPTY DAEFQHFLRGNEIVLSAGSTPRIQGLTVEQAEAVVRLSCLPAFKDLIAKVQADEQFGIWLDSSSPEQTVPYLWSEETPATPIGQAIHRLL LIQAFRPDRLLAMAHMFVSTNLGESFMSIMEQPLDLTHIVGTEVKPNTPVLMCSVPGYDASGHVEDLAAEQNTQITSIAIGSAEGFNQAD KAINTAVKSGRWVMLKNVHLAPGWLMQLEKKLHSLQPHACFRLFLTMEINPKVPVNLLRAGRIFVFEPPPGVKANMLRTFSSIPVSRICK SPNERARLYFLLAWFHAIIQERLRYAPLGWSKKYEFGESDLRSACDTVDTWLDDTAKGRQNISPDKIPWSALKTLMAQSIYGGRVDNEFD QRLLNTFLERLFTTRSFDSEFKLACKVDGHKDIQMPDGIRREEFVQWVELLPDTQTPSWLGLPNNAERVLLTTQGVDMISKMLKMQMLED EDDLAYAETEKKTRTDSTSDGRPAWMRTLHTTASNWLHLIPQTLSHLKRTVENIKDPLFRFFEREVKMGAKLLQDVRQDLADVVQVCEGK KKQTNYLRTLINELVKGILPRSWSHYTVPAGMTVIQWVSDFSERIKQLQNISLAAASGGAKELKNIHVCLGGLFVPEAYITATRQYVAQA NSWSLEELCLEVNVTTSQGATLDACSFGVTGLKLQGATCNNNKLSLSNAISTALPLTQLRWVKQTNTEKKASVVTLPVYLNFTRADLIFT -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:189875519/chr14:102483567) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
COL3A1 | DYNC1H1 |
FUNCTION: Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12. | FUNCTION: Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mitotic spindle assembly and metaphase plate congression (PubMed:27462074). {ECO:0000269|PubMed:27462074}. |
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- 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 |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 1171_1252 | 0 | 4647.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 1357_1373 | 0 | 4647.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 181_202 | 0 | 4647.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 3189_3275 | 0 | 4647.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 3396_3500 | 0 | 4647.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 3737_3800 | 0 | 4647.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 455_478 | 0 | 4647.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 543_566 | 0 | 4647.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 1906_1913 | 0 | 4647.0 | Nucleotide binding | ATP | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 2224_2231 | 0 | 4647.0 | Nucleotide binding | ATP | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 2595_2602 | 0 | 4647.0 | Nucleotide binding | ATP | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 2937_2944 | 0 | 4647.0 | Nucleotide binding | ATP | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 1868_2099 | 0 | 4647.0 | Region | AAA 1 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 2180_2452 | 0 | 4647.0 | Region | AAA 2 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 2556_2805 | 0 | 4647.0 | Region | AAA 3 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 2899_3168 | 0 | 4647.0 | Region | AAA 4 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 3189_3500 | 0 | 4647.0 | Region | Stalk | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 3553_3782 | 0 | 4647.0 | Region | AAA 5 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 4005_4221 | 0 | 4647.0 | Region | AAA 6 | |
Tgene | DYNC1H1 | chr2:189875519 | chr14:102483567 | ENST00000360184 | 0 | 78 | 53_1867 | 0 | 4647.0 | Region | Stem |
- 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 | COL3A1 | chr2:189875519 | chr14:102483567 | ENST00000304636 | + | 1 | 51 | 1232_1466 | 0 | 1467.0 | Domain | Fibrillar collagen NC1 |
Hgene | COL3A1 | chr2:189875519 | chr14:102483567 | ENST00000304636 | + | 1 | 51 | 30_89 | 0 | 1467.0 | Domain | VWFC |
Hgene | COL3A1 | chr2:189875519 | chr14:102483567 | ENST00000304636 | + | 1 | 51 | 1197_1205 | 0 | 1467.0 | Region | Note=Nonhelical region (C-terminal) |
Hgene | COL3A1 | chr2:189875519 | chr14:102483567 | ENST00000304636 | + | 1 | 51 | 149_167 | 0 | 1467.0 | Region | Note=Nonhelical region (N-terminal) |
Hgene | COL3A1 | chr2:189875519 | chr14:102483567 | ENST00000304636 | + | 1 | 51 | 168_1196 | 0 | 1467.0 | Region | Note=Triple-helical region |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
COL3A1 | |
DYNC1H1 |
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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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Related Drugs to COL3A1-DYNC1H1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to COL3A1-DYNC1H1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |