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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:HLA-DRB1-C3 (FusionGDB2 ID:36554)

Fusion Gene Summary for HLA-DRB1-C3

check button Fusion gene summary
Fusion gene informationFusion gene name: HLA-DRB1-C3
Fusion gene ID: 36554
HgeneTgene
Gene symbol

HLA-DRB1

C3

Gene ID

3123

718

Gene namemajor histocompatibility complex, class II, DR beta 1complement C3
SynonymsDRB1|HLA-DR1B|HLA-DRB|SS1AHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62p
Cytomap

6p21.32

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionmajor histocompatibility complex, class II, DR beta 1 precursorHLA class II histocompatibility antigen, DR-1 beta chainMHC class II HLA-DR beta 1 chainhuman leucocyte antigen DRB1lymphocyte antigen DRB1complement C3C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1C3a anaphylatoxinacylation-stimulating protein cleavage productcomplement component 3complement component C3acomplement component C3bepididymis secretory sperm binding pr
Modification date2020032720200327
UniProtAcc.

A6NLC5

Ensembl transtripts involved in fusion geneENST00000360004, ENST00000399450, 
ENST00000444645, ENST00000460546, 
ENST00000328980, ENST00000437784, 
ENST00000419393, ENST00000553034, 
ENST00000245907, ENST00000599668, 
Fusion gene scores* DoF score4 X 5 X 1=2022 X 20 X 8=3520
# samples 522
** MAII scorelog2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(22/3520*10)=-4
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HLA-DRB1 [Title/Abstract] AND C3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHLA-DRB1(32546799)-C3(6680201), # samples:1
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
TgeneC3

GO:0001934

positive regulation of protein phosphorylation

15833747

TgeneC3

GO:0010575

positive regulation of vascular endothelial growth factor production

16452172

TgeneC3

GO:0010828

positive regulation of glucose transmembrane transport

9059512|15833747

TgeneC3

GO:0010866

regulation of triglyceride biosynthetic process

10432298

TgeneC3

GO:0010884

positive regulation of lipid storage

9555951

TgeneC3

GO:0045745

positive regulation of G protein-coupled receptor signaling pathway

15833747


check buttonFusion gene breakpoints across HLA-DRB1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across C3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChiTaRS5.0N/ABG951453HLA-DRB1chr6

32546799

+C3chr19

6680201

+


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Fusion Gene ORF analysis for HLA-DRB1-C3

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
intron-3CDSENST00000360004ENST00000245907HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-intronENST00000360004ENST00000599668HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-3CDSENST00000399450ENST00000245907HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-intronENST00000399450ENST00000599668HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-3CDSENST00000444645ENST00000245907HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-intronENST00000444645ENST00000599668HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-3CDSENST00000460546ENST00000245907HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-intronENST00000460546ENST00000599668HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-3CDSENST00000328980ENST00000245907HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-intronENST00000328980ENST00000599668HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-3CDSENST00000437784ENST00000245907HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-intronENST00000437784ENST00000599668HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-3CDSENST00000419393ENST00000245907HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-intronENST00000419393ENST00000599668HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-3CDSENST00000553034ENST00000245907HLA-DRB1chr6

32546799

+C3chr19

6680201

+
intron-intronENST00000553034ENST00000599668HLA-DRB1chr6

32546799

+C3chr19

6680201

+

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 HLA-DRB1-C3


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for HLA-DRB1-C3


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.C3

A6NLC5

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: May play a role in neuronal and neurobehavioral development. {ECO:0000250|UniProtKB:Q1LY84}.

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 HLA-DRB1-C3


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 HLA-DRB1-C3


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 HLA-DRB1-C3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for HLA-DRB1-C3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHLA-DRB1C0024141Lupus Erythematosus, Systemic8CTD_human;ORPHANET
HgeneHLA-DRB1C0003873Rheumatoid Arthritis3CTD_human
HgeneHLA-DRB1C0027404Narcolepsy3CTD_human;ORPHANET
HgeneHLA-DRB1C0751362Narcolepsy-Cataplexy Syndrome3CTD_human;ORPHANET
HgeneHLA-DRB1C0005138Berylliosis2CTD_human
HgeneHLA-DRB1C0027726Nephrotic Syndrome2CTD_human
HgeneHLA-DRB1C0030805Bullous pemphigoid2ORPHANET
HgeneHLA-DRB1C0033687Proteinuria2CTD_human
HgeneHLA-DRB1C0036202Sarcoidosis2CTD_human;ORPHANET
HgeneHLA-DRB1C2350873Beryllium Disease2CTD_human
HgeneHLA-DRB1C0002994Angioedema1CTD_human
HgeneHLA-DRB1C0004096Asthma1CTD_human
HgeneHLA-DRB1C0004352Autistic Disorder1CTD_human
HgeneHLA-DRB1C0005586Bipolar Disorder1PSYGENET
HgeneHLA-DRB1C0009324Ulcerative Colitis1CTD_human
HgeneHLA-DRB1C0010346Crohn Disease1CTD_human;GENOMICS_ENGLAND
HgeneHLA-DRB1C0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
HgeneHLA-DRB1C0013182Drug Allergy1CTD_human
HgeneHLA-DRB1C0017665Membranous glomerulonephritis1CTD_human
HgeneHLA-DRB1C0019193Hepatitis, Toxic1CTD_human
HgeneHLA-DRB1C0020517Hypersensitivity1CTD_human
HgeneHLA-DRB1C0023290Leishmaniasis, Visceral1CTD_human
HgeneHLA-DRB1C0024301Lymphoma, Follicular1ORPHANET
HgeneHLA-DRB1C0024302Reticulosarcoma1CTD_human
HgeneHLA-DRB1C0024304Lymphoma, Mixed-Cell1CTD_human
HgeneHLA-DRB1C0024305Lymphoma, Non-Hodgkin1CTD_human
HgeneHLA-DRB1C0024306Lymphoma, Undifferentiated1CTD_human
HgeneHLA-DRB1C0026654Moyamoya Disease1GENOMICS_ENGLAND
HgeneHLA-DRB1C0026769Multiple Sclerosis1CTD_human
HgeneHLA-DRB1C0029295Oropharyngeal Neoplasms1CTD_human
HgeneHLA-DRB1C0030305Pancreatitis1CTD_human
HgeneHLA-DRB1C0036341Schizophrenia1CTD_human
HgeneHLA-DRB1C0041466Typhoid Fever1CTD_human
HgeneHLA-DRB1C0042109Urticaria1CTD_human
HgeneHLA-DRB1C0079740High Grade Lymphoma (neoplasm)1CTD_human
HgeneHLA-DRB1C0079741Lymphoma, Intermediate-Grade1CTD_human
HgeneHLA-DRB1C0079747Low Grade Lymphoma (neoplasm)1CTD_human
HgeneHLA-DRB1C0079757Diffuse Mixed-Cell Lymphoma1CTD_human
HgeneHLA-DRB1C0079770Lymphoma, Small Noncleaved-Cell1CTD_human
HgeneHLA-DRB1C0085179Eosinophilia-Myalgia Syndrome1CTD_human
HgeneHLA-DRB1C0086445Idiopathic Membranous Glomerulonephritis1CTD_human
HgeneHLA-DRB1C0087031Juvenile-Onset Still Disease1ORPHANET
HgeneHLA-DRB1C0156147Crohn's disease of large bowel1CTD_human
HgeneHLA-DRB1C0205734Diabetes, Autoimmune1CTD_human
HgeneHLA-DRB1C0242380Libman-Sacks Disease1CTD_human
HgeneHLA-DRB1C0267380Crohn's disease of the ileum1CTD_human
HgeneHLA-DRB1C0342302Brittle diabetes1CTD_human
HgeneHLA-DRB1C0678202Regional enteritis1CTD_human
HgeneHLA-DRB1C0751324Multiple Sclerosis, Acute Fulminating1CTD_human
HgeneHLA-DRB1C0751622Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related1CTD_human
HgeneHLA-DRB1C0860207Drug-Induced Liver Disease1CTD_human
HgeneHLA-DRB1C0949272IIeocolitis1CTD_human
HgeneHLA-DRB1C1262760Hepatitis, Drug-Induced1CTD_human
HgeneHLA-DRB1C1384600Systemic onset juvenile chronic arthritis1ORPHANET
HgeneHLA-DRB1C1527304Allergic Reaction1CTD_human
HgeneHLA-DRB1C1704378Heymann Nephritis1CTD_human
HgeneHLA-DRB1C2349952Oropharyngeal Carcinoma1CTD_human
HgeneHLA-DRB1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneHLA-DRB1C3714542Lymphoma, Diffuse1CTD_human
HgeneHLA-DRB1C3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
HgeneHLA-DRB1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneHLA-DRB1C4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneHLA-DRB1C4554117Diabetes Mellitus, Sudden-Onset1CTD_human
HgeneHLA-DRB1C4706583Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies1ORPHANET
HgeneHLA-DRB1C4721532Lymphoma, Non-Hodgkin, Familial1CTD_human
TgeneC3C3151071COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3C0242383Age related macular degeneration4CTD_human;GENOMICS_ENGLAND
TgeneC3C2752037HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 54GENOMICS_ENGLAND;UNIPROT
TgeneC3C1969651Macular Degeneration, Age-Related, 92CTD_human;UNIPROT
TgeneC3C0003257Antibody Deficiency Syndrome1CTD_human
TgeneC3C0007787Transient Ischemic Attack1CTD_human
TgeneC3C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC3C0013221Drug toxicity1CTD_human
TgeneC3C0017665Membranous glomerulonephritis1CTD_human
TgeneC3C0019061Hemolytic-Uremic Syndrome1GENOMICS_ENGLAND
TgeneC3C0019193Hepatitis, Toxic1CTD_human
TgeneC3C0021051Immunologic Deficiency Syndromes1CTD_human
TgeneC3C0021655Insulin Resistance1CTD_human
TgeneC3C0022660Kidney Failure, Acute1CTD_human
TgeneC3C0030524Paratuberculosis1CTD_human
TgeneC3C0030807Pemphigus1CTD_human
TgeneC3C0030809Pemphigus Vulgaris1CTD_human
TgeneC3C0034152Henoch-Schoenlein Purpura1CTD_human
TgeneC3C0041755Adverse reaction to drug1CTD_human
TgeneC3C0042386Vasculitis, Hemorrhagic1CTD_human
TgeneC3C0086445Idiopathic Membranous Glomerulonephritis1CTD_human
TgeneC3C0086922Rheumatoid Purpura1CTD_human
TgeneC3C0238281Middle Cerebral Artery Syndrome1CTD_human
TgeneC3C0242461Purpura, Nonthrombocytopenic1CTD_human
TgeneC3C0263313Pemphigus Foliaceus1CTD_human
TgeneC3C0272242Complement deficiency disease1GENOMICS_ENGLAND
TgeneC3C0376362Purpura Hemorrhagica1CTD_human
TgeneC3C0472381Posterior Circulation Transient Ischemic Attack1CTD_human
TgeneC3C0740376Middle Cerebral Artery Thrombosis1CTD_human
TgeneC3C0740391Middle Cerebral Artery Occlusion1CTD_human
TgeneC3C0740392Infarction, Middle Cerebral Artery1CTD_human
TgeneC3C0751019Carotid Circulation Transient Ischemic Attack1CTD_human
TgeneC3C0751020Transient Ischemic Attack, Vertebrobasilar Circulation1CTD_human
TgeneC3C0751021Crescendo Transient Ischemic Attacks1CTD_human
TgeneC3C0751022Brain Stem Ischemia, Transient1CTD_human
TgeneC3C0751845Middle Cerebral Artery Embolus1CTD_human
TgeneC3C0751846Left Middle Cerebral Artery Infarction1CTD_human
TgeneC3C0751847Embolic Infarction, Middle Cerebral Artery1CTD_human
TgeneC3C0751848Thrombotic Infarction, Middle Cerebral Artery1CTD_human
TgeneC3C0751849Right Middle Cerebral Artery Infarction1CTD_human
TgeneC3C0860207Drug-Induced Liver Disease1CTD_human
TgeneC3C0917805Transient Cerebral Ischemia1CTD_human
TgeneC3C0920563Insulin Sensitivity1CTD_human
TgeneC3C1262760Hepatitis, Drug-Induced1CTD_human
TgeneC3C1332655Complement component 3 deficiency1GENOMICS_ENGLAND
TgeneC3C1527335Transient Ischemic Attack, Anterior Circulation1CTD_human
TgeneC3C1565662Acute Kidney Insufficiency1CTD_human
TgeneC3C1704378Heymann Nephritis1CTD_human
TgeneC3C2609414Acute kidney injury1CTD_human
TgeneC3C2931788Atypical Hemolytic Uremic Syndrome1CTD_human;GENOMICS_ENGLAND
TgeneC3C3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC3C4087273C3 glomerulopathy1GENOMICS_ENGLAND
TgeneC3C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC3C4279912Chemically-Induced Liver Toxicity1CTD_human