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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:HPR-C3 (FusionGDB2 ID:37362)

Fusion Gene Summary for HPR-C3

check button Fusion gene summary
Fusion gene informationFusion gene name: HPR-C3
Fusion gene ID: 37362
HgeneTgene
Gene symbol

HPR

C3

Gene ID

3250

718

Gene namehaptoglobin-related proteincomplement C3
SynonymsA-259H10.2|HPAHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62p
Cytomap

16q22.2

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionhaptoglobin-related proteinHaptoglobin-related locuscomplement 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 date2020031320200327
UniProtAcc.

A6NLC5

Ensembl transtripts involved in fusion geneENST00000356967, ENST00000540303, 
ENST00000561690, ENST00000228226, 
ENST00000245907, ENST00000599668, 
Fusion gene scores* DoF score3 X 4 X 3=3622 X 20 X 8=3520
# samples 422
** MAII scorelog2(4/36*10)=0.15200309344505
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: HPR [Title/Abstract] AND C3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHPR(72110851)-C3(6677988), # 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 HPR (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
ChimerDB4LIHCTCGA-DD-AADQHPRchr16

72110851

+C3chr19

6677988

-


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Fusion Gene ORF analysis for HPR-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
In-frameENST00000356967ENST00000245907HPRchr16

72110851

+C3chr19

6677988

-
5CDS-5UTRENST00000356967ENST00000599668HPRchr16

72110851

+C3chr19

6677988

-
In-frameENST00000540303ENST00000245907HPRchr16

72110851

+C3chr19

6677988

-
5CDS-5UTRENST00000540303ENST00000599668HPRchr16

72110851

+C3chr19

6677988

-
intron-3CDSENST00000561690ENST00000245907HPRchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000561690ENST00000599668HPRchr16

72110851

+C3chr19

6677988

-
In-frameENST00000228226ENST00000245907HPRchr16

72110851

+C3chr19

6677988

-
5CDS-5UTRENST00000228226ENST00000599668HPRchr16

72110851

+C3chr19

6677988

-

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)
ENST00000356967HPRchr1672110851+ENST00000245907C3chr196677988-70142730338102
ENST00000540303HPRchr1672110851+ENST00000245907C3chr196677988-868594418816132
ENST00000228226HPRchr1672110851+ENST00000245907C3chr196677988-7825080419139

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
ENST00000356967ENST00000245907HPRchr1672110851+C3chr196677988-0.17727180.82272816
ENST00000540303ENST00000245907HPRchr1672110851+C3chr196677988-0.172360880.8276391
ENST00000228226ENST00000245907HPRchr1672110851+C3chr196677988-0.35909220.6409078

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Fusion Genomic Features for HPR-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 HPR-C3


check button Go to

FGviewer for the breakpoints of chr16:72110851-chr19:6677988

.
- 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
TgeneC3chr16:72110851chr19:6677988ENST000002459070411518_166101664.0DomainNTR
TgeneC3chr16:72110851chr19:6677988ENST00000245907041693_72801664.0DomainAnaphylatoxin-like

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHPRchr16:72110851chr19:6677988ENST00000228226+14104_3460.0386.0DomainPeptidase S1
HgeneHPRchr16:72110851chr19:6677988ENST00000228226+1434_870.0386.0DomainNote=Sushi
HgeneHPRchr16:72110851chr19:6677988ENST00000356967+15104_3460349.0DomainPeptidase S1
HgeneHPRchr16:72110851chr19:6677988ENST00000356967+1534_870349.0DomainNote=Sushi
HgeneHPRchr16:72110851chr19:6677988ENST00000540303+15104_3460349.0DomainPeptidase S1
HgeneHPRchr16:72110851chr19:6677988ENST00000540303+1534_870349.0DomainNote=Sushi


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Fusion Gene Sequence for HPR-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.
>In-frame_ENST00000356967_ENST00000245907_TCGA-DD-AADQ_HPR_chr16_72110851_+_C3_chr19_6677988_length(transcript)=701nt_BP=427nt
ACTGCTCTTCCAGAGGCAAGACCAACCAAGATGAGTGACCTGGGAGCTGTCATTTCCCTCCTGCTCTGGGGACGACAGCTTTTTGCACTG
TACTCAGGCAATGATGTCACGGATATTTCAGATGACCGCTTCCCGAAGCCCCCTGAGATTGCAAATGGCTATGTGGAGCACTTGTTTCGC
TACCAGTGTAAGAACTACTACAGACTGCGCACAGAAGGAGATGGAGTATACACCTTAAATGATAAGAAGCAGTGGATAAATAAGGCTGTT
GGAGATAAACTTCCTGAATGTGAAGCAGGAGGAGGACACCTGGTACGCGGCTGGGATCCTAAGCTTTGATAAGAGCTGTGCTGTGGCTGA
GTATGGTGTGTATGTGAAGGTGACTTCCATCCAGCACTGGGTTCAGAAGACCATAGCTGAGAACTAAGAGGAGGACGAATGCCAAGACGA
AGAGAACCAGAAACAATGCCAGGACCTCGGCGCCTTCACCGAGAGCATGGTTGTCTTTGGGTGCCCCAACTGACCACACCCCCATTCCCC
CACTCCAGATAAAGCTTCAGTTATATCTCACGTGTCTGGAGTTCTTTGCCAAGAGGGAGAGGCTGAAATCCCCAGCCGCCTCACCTGCAG

>In-frame_ENST00000356967_ENST00000245907_TCGA-DD-AADQ_HPR_chr16_72110851_+_C3_chr19_6677988_length(amino acids)=102AA_start in transcript=30_stop in transcript=338
MSDLGAVISLLLWGRQLFALYSGNDVTDISDDRFPKPPEIANGYVEHLFRYQCKNYYRLRTEGDGVYTLNDKKQWINKAVGDKLPECEAG

--------------------------------------------------------------
>In-frame_ENST00000540303_ENST00000245907_TCGA-DD-AADQ_HPR_chr16_72110851_+_C3_chr19_6677988_length(transcript)=868nt_BP=594nt
GCACTGCTCTTCCAGAGGCAAGACCAACCAAGATGAGTGACCTGGGAGCTGTCATTTCCCTCCTGCTCTGGGGACGACAGCTTTTTGCAC
TGTACTCAGGCAATGATGTCACGGATATTTCAGATGACCGCTTCCCGAAGCCCCCTGAGATTGCAAATGGCTATGTGGAGCACTTGTTTC
GCTACCAGTGTAAGAACTACTACAGACTGCGCACAGAAGGAGATGGAGTATACACCTTAAATGATAAGAAGCAGTGGATAAATAAGGCTG
TTGGAGATAAACTTCCTGAATGTGAAGCAGGAGGAGGACACCTGGTACGCGGCTGGGATCCTAAGCTTTGATAAGAGCTGTGCTGTGGCT
GAGTATGGTGTGTATGTGAAGGTGACTTCCATCCAGCACTGGGTTCAGAAGACCATAGCTGAGAACTAATGCAAGGCTGGCCGGAAGCCC
TTGCCTGAAAGCAAGATTTCAGCCTGGAAGAGGGCAAAGTGGACGGGAGTGGACAGGAGTGGATGCGATAAGATGTGGTTTGAAGCTGAT
GGGTGCCAGCCCTGCATTGCTGAGTCAATCAATAAAGAGCTTTCTTTTGACCCAGAGGAGGACGAATGCCAAGACGAAGAGAACCAGAAA
CAATGCCAGGACCTCGGCGCCTTCACCGAGAGCATGGTTGTCTTTGGGTGCCCCAACTGACCACACCCCCATTCCCCCACTCCAGATAAA
GCTTCAGTTATATCTCACGTGTCTGGAGTTCTTTGCCAAGAGGGAGAGGCTGAAATCCCCAGCCGCCTCACCTGCAGCTCAGCTCCATCC

>In-frame_ENST00000540303_ENST00000245907_TCGA-DD-AADQ_HPR_chr16_72110851_+_C3_chr19_6677988_length(amino acids)=132AA_start in transcript=418_stop in transcript=816
MRTNARLAGSPCLKARFQPGRGQSGREWTGVDAIRCGLKLMGASPALLSQSIKSFLLTQRRTNAKTKRTRNNARTSAPSPRAWLSLGAPT

--------------------------------------------------------------
>In-frame_ENST00000228226_ENST00000245907_TCGA-DD-AADQ_HPR_chr16_72110851_+_C3_chr19_6677988_length(transcript)=782nt_BP=508nt
ATGCATGTGTGTGTGTGCGTGTGTGTGTGTGTGTACATGCCTGTGTGTGTGGATGCATGCATGTGCTGTGAAGCAGGGAGACCAGCTTTC
CGCTCCTTCTTGTTTTCTCTCTGCAGTGACCTGGGAGCTGTCATTTCCCTCCTGCTCTGGGGACGACAGCTTTTTGCACTGTACTCAGGC
AATGATGTCACGGATATTTCAGATGACCGCTTCCCGAAGCCCCCTGAGATTGCAAATGGCTATGTGGAGCACTTGTTTCGCTACCAGTGT
AAGAACTACTACAGACTGCGCACAGAAGGAGATGGAGTATACACCTTAAATGATAAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAA
CTTCCTGAATGTGAAGCAGGAGGAGGACACCTGGTACGCGGCTGGGATCCTAAGCTTTGATAAGAGCTGTGCTGTGGCTGAGTATGGTGT
GTATGTGAAGGTGACTTCCATCCAGCACTGGGTTCAGAAGACCATAGCTGAGAACTAAGAGGAGGACGAATGCCAAGACGAAGAGAACCA
GAAACAATGCCAGGACCTCGGCGCCTTCACCGAGAGCATGGTTGTCTTTGGGTGCCCCAACTGACCACACCCCCATTCCCCCACTCCAGA
TAAAGCTTCAGTTATATCTCACGTGTCTGGAGTTCTTTGCCAAGAGGGAGAGGCTGAAATCCCCAGCCGCCTCACCTGCAGCTCAGCTCC

>In-frame_ENST00000228226_ENST00000245907_TCGA-DD-AADQ_HPR_chr16_72110851_+_C3_chr19_6677988_length(amino acids)=139AA_start in transcript=0_stop in transcript=419
MHVCVCVCVCVYMPVCVDACMCCEAGRPAFRSFLFSLCSDLGAVISLLLWGRQLFALYSGNDVTDISDDRFPKPPEIANGYVEHLFRYQC

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

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Fusion Gene PPI Analysis for HPR-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
TgeneC3chr16:72110851chr19:6677988ENST000002459070411634_165901664.0CFP/properdin


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 HPR-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 HPR-C3


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