UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:ADAMTS12-C1QTNF3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ADAMTS12-C1QTNF3
FusionPDB ID: 2041
FusionGDB2.0 ID: 2041
HgeneTgene
Gene symbol

ADAMTS12

C1QTNF3

Gene ID

81792

114899

Gene nameADAM metallopeptidase with thrombospondin type 1 motif 12C1q and TNF related 3
SynonymsPRO4389C1ATNF3|CORCS|CORS|CORS-26|CORS26|CTRP3
Cytomap

5p13.3-p13.2

5p13.2

Type of geneprotein-codingprotein-coding
DescriptionA disintegrin and metalloproteinase with thrombospondin motifs 12ADAM-TS 12ADAM-TS12ADAMTS-12a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12complement C1q tumor necrosis factor-related protein 3C1q and tumor necrosis factor related protein 3cartonectincollagenous repeat-containing sequence 26 kDa proteincollagenous repeat-containing sequence of 26-kDasecretory protein CORS26
Modification date2020031320200322
UniProtAcc

P58397

Q9BXJ4

Ensembl transtripts involved in fusion geneENST idsENST00000352040, ENST00000504830, 
ENST00000515401, ENST00000504582, 
ENST00000513065, ENST00000231338, 
ENST00000382065, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 6 X 4=1447 X 3 X 6=126
# samples 68
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/126*10)=-0.655351828612554
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ADAMTS12 [Title/Abstract] AND C1QTNF3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ADAMTS12(33891835)-C1QTNF3(34035863), # samples:1
Anticipated loss of major functional domain due to fusion event.ADAMTS12-C1QTNF3 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.
ADAMTS12-C1QTNF3 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.
ADAMTS12-C1QTNF3 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.
ADAMTS12-C1QTNF3 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneADAMTS12

GO:0030167

proteoglycan catabolic process

17895370

HgeneADAMTS12

GO:0032331

negative regulation of chondrocyte differentiation

22247065

HgeneADAMTS12

GO:0050727

regulation of inflammatory response

23019333

HgeneADAMTS12

GO:0051603

proteolysis involved in cellular protein catabolic process

16611630

HgeneADAMTS12

GO:0071773

cellular response to BMP stimulus

22247065

HgeneADAMTS12

GO:1901509

regulation of endothelial tube morphogenesis

17895370

HgeneADAMTS12

GO:1902203

negative regulation of hepatocyte growth factor receptor signaling pathway

17895370

HgeneADAMTS12

GO:1902548

negative regulation of cellular response to vascular endothelial growth factor stimulus

17895370

HgeneADAMTS12

GO:2001113

negative regulation of cellular response to hepatocyte growth factor stimulus

17895370

TgeneC1QTNF3

GO:0035356

cellular triglyceride homeostasis

20739398

TgeneC1QTNF3

GO:0045721

negative regulation of gluconeogenesis

20952387

TgeneC1QTNF3

GO:0050715

positive regulation of cytokine secretion

18421280

TgeneC1QTNF3

GO:0050728

negative regulation of inflammatory response

16213490

TgeneC1QTNF3

GO:0070165

positive regulation of adiponectin secretion

18421280

TgeneC1QTNF3

GO:0071638

negative regulation of monocyte chemotactic protein-1 production

20739398

TgeneC1QTNF3

GO:1900165

negative regulation of interleukin-6 secretion

16213490

TgeneC1QTNF3

GO:1901223

negative regulation of NIK/NF-kappaB signaling

16213490


check buttonFusion gene breakpoints across ADAMTS12 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across C1QTNF3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-AN-A0AR-01AADAMTS12chr5

33891835

-C1QTNF3chr5

34035863

-


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000504830ADAMTS12chr533891835-ENST00000382065C1QTNF3chr534035863-22554633611119252
ENST00000504830ADAMTS12chr533891835-ENST00000231338C1QTNF3chr534035863-22504633611119252
ENST00000352040ADAMTS12chr533891835-ENST00000382065C1QTNF3chr534035863-2004212110868252
ENST00000352040ADAMTS12chr533891835-ENST00000231338C1QTNF3chr534035863-1999212110868252
ENST00000515401ADAMTS12chr533891835-ENST00000382065C1QTNF3chr534035863-2082290188946252
ENST00000515401ADAMTS12chr533891835-ENST00000231338C1QTNF3chr534035863-2077290188946252

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000504830ENST00000382065ADAMTS12chr533891835-C1QTNF3chr534035863-0.0012352430.99876475
ENST00000504830ENST00000231338ADAMTS12chr533891835-C1QTNF3chr534035863-0.0012410350.99875903
ENST00000352040ENST00000382065ADAMTS12chr533891835-C1QTNF3chr534035863-0.001027780.9989722
ENST00000352040ENST00000231338ADAMTS12chr533891835-C1QTNF3chr534035863-0.0010461530.9989538
ENST00000515401ENST00000382065ADAMTS12chr533891835-C1QTNF3chr534035863-0.0010181150.9989819
ENST00000515401ENST00000231338ADAMTS12chr533891835-C1QTNF3chr534035863-0.0010380270.9989619

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>2041_2041_1_ADAMTS12-C1QTNF3_ADAMTS12_chr5_33891835_ENST00000352040_C1QTNF3_chr5_34035863_ENST00000231338_length(amino acids)=252AA_BP=34
MQTFPWWLSSLTLGRFAMGDSLSQARFASRTGGKSPQTGGLPPDCSKCCHGDYSFRGYQGPPGPPGPPGIPGNHGNNGNNGATGHEGAKG
EKGDKGDLGPRGERGQHGPKGEKGYPGIPPELQIAFMASLATHFSNQNSGIIFSSVETNIGNFFDVMTGRFGAPVSGVYFFTFSMMKHED

--------------------------------------------------------------

>2041_2041_2_ADAMTS12-C1QTNF3_ADAMTS12_chr5_33891835_ENST00000352040_C1QTNF3_chr5_34035863_ENST00000382065_length(amino acids)=252AA_BP=34
MQTFPWWLSSLTLGRFAMGDSLSQARFASRTGGKSPQTGGLPPDCSKCCHGDYSFRGYQGPPGPPGPPGIPGNHGNNGNNGATGHEGAKG
EKGDKGDLGPRGERGQHGPKGEKGYPGIPPELQIAFMASLATHFSNQNSGIIFSSVETNIGNFFDVMTGRFGAPVSGVYFFTFSMMKHED

--------------------------------------------------------------

>2041_2041_3_ADAMTS12-C1QTNF3_ADAMTS12_chr5_33891835_ENST00000504830_C1QTNF3_chr5_34035863_ENST00000231338_length(amino acids)=252AA_BP=34
MQTFPWWLSSLTLGRFAMGDSLSQARFASRTGGKSPQTGGLPPDCSKCCHGDYSFRGYQGPPGPPGPPGIPGNHGNNGNNGATGHEGAKG
EKGDKGDLGPRGERGQHGPKGEKGYPGIPPELQIAFMASLATHFSNQNSGIIFSSVETNIGNFFDVMTGRFGAPVSGVYFFTFSMMKHED

--------------------------------------------------------------

>2041_2041_4_ADAMTS12-C1QTNF3_ADAMTS12_chr5_33891835_ENST00000504830_C1QTNF3_chr5_34035863_ENST00000382065_length(amino acids)=252AA_BP=34
MQTFPWWLSSLTLGRFAMGDSLSQARFASRTGGKSPQTGGLPPDCSKCCHGDYSFRGYQGPPGPPGPPGIPGNHGNNGNNGATGHEGAKG
EKGDKGDLGPRGERGQHGPKGEKGYPGIPPELQIAFMASLATHFSNQNSGIIFSSVETNIGNFFDVMTGRFGAPVSGVYFFTFSMMKHED

--------------------------------------------------------------

>2041_2041_5_ADAMTS12-C1QTNF3_ADAMTS12_chr5_33891835_ENST00000515401_C1QTNF3_chr5_34035863_ENST00000231338_length(amino acids)=252AA_BP=34
MQTFPWWLSSLTLGRFAMGDSLSQARFASRTGGKSPQTGGLPPDCSKCCHGDYSFRGYQGPPGPPGPPGIPGNHGNNGNNGATGHEGAKG
EKGDKGDLGPRGERGQHGPKGEKGYPGIPPELQIAFMASLATHFSNQNSGIIFSSVETNIGNFFDVMTGRFGAPVSGVYFFTFSMMKHED

--------------------------------------------------------------

>2041_2041_6_ADAMTS12-C1QTNF3_ADAMTS12_chr5_33891835_ENST00000515401_C1QTNF3_chr5_34035863_ENST00000382065_length(amino acids)=252AA_BP=34
MQTFPWWLSSLTLGRFAMGDSLSQARFASRTGGKSPQTGGLPPDCSKCCHGDYSFRGYQGPPGPPGPPGIPGNHGNNGNNGATGHEGAKG
EKGDKGDLGPRGERGQHGPKGEKGYPGIPPELQIAFMASLATHFSNQNSGIIFSSVETNIGNFFDVMTGRFGAPVSGVYFFTFSMMKHED

--------------------------------------------------------------

Top

Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:33891835/chr5:34035863)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ADAMTS12

P58397

C1QTNF3

Q9BXJ4

FUNCTION: Metalloprotease that may play a role in the degradation of COMP. Cleaves also alpha-2 macroglobulin and aggregan. Has anti-tumorigenic properties. {ECO:0000269|PubMed:16611630, ECO:0000269|PubMed:17895370, ECO:0000269|PubMed:18485748}.

check buttonRetention 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

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneC1QTNF3chr5:33891835chr5:34035863ENST0000023133806113_24628.0247.0DomainC1q
TgeneC1QTNF3chr5:33891835chr5:34035863ENST000002313380651_11328.0247.0DomainNote=Collagen-like
TgeneC1QTNF3chr5:33891835chr5:34035863ENST0000038206506113_246101.0320.0DomainC1q

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-122302_30542.3333333333333361510.0Compositional biasNote=Poly-Glu
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-122597_70042.3333333333333361510.0Compositional biasNote=Cys-rich
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-124302_30542.3333333333333361595.0Compositional biasNote=Poly-Glu
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-124597_70042.3333333333333361595.0Compositional biasNote=Cys-rich
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-1221313_136642.3333333333333361510.0DomainTSP type-1 5
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-1221368_142242.3333333333333361510.0DomainTSP type-1 6
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-1221423_147142.3333333333333361510.0DomainTSP type-1 7
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-1221472_153242.3333333333333361510.0DomainTSP type-1 8
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-1221535_157542.3333333333333361510.0DomainPLAC
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-122246_45642.3333333333333361510.0DomainPeptidase M12B
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-122465_54442.3333333333333361510.0DomainNote=Disintegrin
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-122542_59742.3333333333333361510.0DomainTSP type-1 1
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-122823_88342.3333333333333361510.0DomainTSP type-1 2
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-122887_94342.3333333333333361510.0DomainTSP type-1 3
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-122944_99742.3333333333333361510.0DomainTSP type-1 4
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-1241313_136642.3333333333333361595.0DomainTSP type-1 5
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-1241368_142242.3333333333333361595.0DomainTSP type-1 6
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-1241423_147142.3333333333333361595.0DomainTSP type-1 7
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-1241472_153242.3333333333333361595.0DomainTSP type-1 8
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-1241535_157542.3333333333333361595.0DomainPLAC
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-124246_45642.3333333333333361595.0DomainPeptidase M12B
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-124465_54442.3333333333333361595.0DomainNote=Disintegrin
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-124542_59742.3333333333333361595.0DomainTSP type-1 1
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-124823_88342.3333333333333361595.0DomainTSP type-1 2
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-124887_94342.3333333333333361595.0DomainTSP type-1 3
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-124944_99742.3333333333333361595.0DomainTSP type-1 4
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-122208_21342.3333333333333361510.0MotifCysteine switch
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-124208_21342.3333333333333361595.0MotifCysteine switch
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-122701_82742.3333333333333361510.0RegionNote=Spacer 1
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000352040-122997_131642.3333333333333361510.0RegionNote=Spacer 2
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-124701_82742.3333333333333361595.0RegionNote=Spacer 1
HgeneADAMTS12chr5:33891835chr5:34035863ENST00000504830-124997_131642.3333333333333361595.0RegionNote=Spacer 2
TgeneC1QTNF3chr5:33891835chr5:34035863ENST000003820650651_113101.0320.0DomainNote=Collagen-like


Top

Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ADAMTS12
C1QTNF3


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to ADAMTS12-C1QTNF3


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to ADAMTS12-C1QTNF3


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource