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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DLK1-C1QB (FusionGDB2 ID:HG8788TG713)

Fusion Gene Summary for DLK1-C1QB

check button Fusion gene summary
Fusion gene informationFusion gene name: DLK1-C1QB
Fusion gene ID: hg8788tg713
HgeneTgene
Gene symbol

DLK1

C1QB

Gene ID

8788

713

Gene namedelta like non-canonical Notch ligand 1complement C1q B chain
SynonymsDLK|DLK-1|Delta1|FA1|PREF1|Pref-1|ZOG|pG2-
Cytomap('DLK1')('C1QB')

14q32.2

1p36.12

Type of geneprotein-codingprotein-coding
Descriptionprotein delta homolog 1delta-like 1 homologfetal antigen 1preadipocyte factor 1secredeltincomplement C1q subcomponent subunit Bcomplement C1q chain Bcomplement component 1, q subcomponent, B chaincomplement component 1, q subcomponent, beta polypeptidecomplement component C1q, B chaincomplement subcomponent C1q chain B
Modification date2020032920200313
UniProtAcc.

P02746

Ensembl transtripts involved in fusion geneENST00000331224, ENST00000341267, 
ENST00000556051, 
Fusion gene scores* DoF score8 X 7 X 4=2243 X 3 X 3=27
# samples 93
** MAII scorelog2(9/224*10)=-1.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DLK1 [Title/Abstract] AND C1QB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDLK1(101198516)-C1QB(22987904), # samples:9
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneDLK1

GO:0045746

negative regulation of Notch signaling pathway

25093684



check button Fusion gene information
* 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
ChimerDB4ACCTCGA-OR-A5JR-01ADLK1chr14

101198516

+C1QBchr1

22987904

+
ChimerDB4ACCTCGA-OR-A5JV-01ADLK1chr14

101198516

+C1QBchr1

22987904

+
ChimerDB4ACCTCGA-OR-A5JX-01ADLK1chr14

101198516

+C1QBchr1

22987904

+
ChimerDB4LIHCTCGA-CC-A7II-01ADLK1chr14

101198516

+C1QBchr1

22987904

+
ChimerDB4PCPGTCGA-P7-A5NY-05ADLK1chr14

101198516

+C1QBchr1

22987904

+
ChimerDB4PCPGTCGA-QR-A706-01ADLK1chr14

101198516

+C1QBchr1

22987904

+
ChimerDB4PCPGTCGA-QR-A70G-01BDLK1chr14

101198516

+C1QBchr1

22987904

+
ChimerDB4PCPGTCGA-QT-A5XL-01ADLK1chr14

101198516

+C1QBchr1

22987904

+
ChimerDB4PCPGTCGA-TT-A6YP-01ADLK1chr14

101198516

+C1QBchr1

22987904

+


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Fusion Gene ORF analysis for DLK1-C1QB

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000331224ENST00000314933DLK1chr14

101198516

+C1QBchr1

22987904

+
5CDS-3UTRENST00000331224ENST00000509305DLK1chr14

101198516

+C1QBchr1

22987904

+
5CDS-3UTRENST00000341267ENST00000314933DLK1chr14

101198516

+C1QBchr1

22987904

+
5CDS-3UTRENST00000341267ENST00000509305DLK1chr14

101198516

+C1QBchr1

22987904

+
intron-3UTRENST00000556051ENST00000314933DLK1chr14

101198516

+C1QBchr1

22987904

+
intron-3UTRENST00000556051ENST00000509305DLK1chr14

101198516

+C1QBchr1

22987904

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

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

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Fusion Genomic Features for DLK1-C1QB


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for DLK1-C1QB


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/:101198516/:22987904)
- 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
.C1QB

P02746

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for DLK1-C1QB


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for DLK1-C1QB


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for DLK1-C1QB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneC1QBP02746DB00002CetuximabBiotechApproved
TgeneC1QBP02746DB14548Zinc sulfate, unspecified formModulatorSmall moleculeApproved|Experimental
TgeneC1QBP02746DB00110PalivizumabBiotechApproved|Investigational
TgeneC1QBP02746DB00112BevacizumabBiotechApproved|Investigational
TgeneC1QBP02746DB01593ZincSmall moleculeApproved|Investigational
TgeneC1QBP02746DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneC1QBP02746DB14533Zinc chlorideModulatorSmall moleculeApproved|Investigational

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Related Diseases for DLK1-C1QB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDLK1C0015934Fetal Growth Retardation1CTD_human
HgeneDLK1C0342544Idiopathic central precocious puberty1ORPHANET
HgeneDLK1C1842466Uniparental disomy, paternal, chromosome 141ORPHANET
HgeneDLK1C2713368Hematopoetic Myelodysplasia1CTD_human
HgeneDLK1C3463824MYELODYSPLASTIC SYNDROME1CTD_human
TgeneC3150902C1q DEFICIENCY2CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0003257Antibody Deficiency Syndrome1CTD_human
TgeneC0010093Corpus Luteum Cyst1CTD_human
TgeneC0017661IGA Glomerulonephritis1CTD_human
TgeneC0021051Immunologic Deficiency Syndromes1CTD_human
TgeneC0023890Liver Cirrhosis1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0024141Lupus Erythematosus, Systemic1GENOMICS_ENGLAND
TgeneC0029927Ovarian Cysts1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0151744Myocardial Ischemia1CTD_human
TgeneC0239946Fibrosis, Liver1CTD_human
TgeneC0272242Complement deficiency disease1GENOMICS_ENGLAND