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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:HP-C3 (FusionGDB2 ID:HG3240TG718)

Fusion Gene Summary for HP-C3

check button Fusion gene summary
Fusion gene informationFusion gene name: HP-C3
Fusion gene ID: hg3240tg718
HgeneTgene
Gene symbol

HP

C3

Gene ID

3240

718

Gene namehaptoglobincomplement C3
SynonymsBP|HP2ALPHA2|HPA1SAHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62p
Cytomap('HP')('C3')

16q22.2

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionhaptoglobinbinding peptidehaptoglobin alpha(1S)-betahaptoglobin alpha(2FS)-betahaptoglobin, alpha polypeptidehaptoglobin, beta polypeptidezonulincomplement 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

P00738

.
Ensembl transtripts involved in fusion geneENST00000562526, ENST00000355906, 
ENST00000357763, ENST00000398131, 
ENST00000565574, ENST00000570083, 
ENST00000569639, 
ENST00000565574, 
ENST00000569639, ENST00000355906, 
ENST00000357763, ENST00000398131, 
ENST00000562526, ENST00000570083, 
Fusion gene scores* DoF score9 X 11 X 3=29722 X 20 X 8=3520
# samples 1022
** MAII scorelog2(10/297*10)=-1.57046293102604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: HP [Title/Abstract] AND C3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHP(72094660)-C3(6677988), # samples:1
HP(72110851)-C3(6677988), # samples:1
HP(72094669)-C3(6677979), # samples:1
Anticipated loss of major functional domain due to fusion event.C3-HP 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.
C3-HP 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.
HP-C3 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.
HP-C3 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.
HP-C3 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.
HP-C3 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.
C3-HP seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
HP-C3 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
HgeneHP

GO:0010942

positive regulation of cell death

19740759

HgeneHP

GO:0042542

response to hydrogen peroxide

19740759

HgeneHP

GO:0051354

negative regulation of oxidoreductase activity

19740759

HgeneHP

GO:2000296

negative regulation of hydrogen peroxide catabolic process

19740759

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 HP (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 C3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4LIHCTCGA-DD-AADQHPchr16

72094660

+C3chr19

6677988

-
ChimerDB4LIHCTCGA-DD-AADQHPchr16

72110851

+C3chr19

6677988

-
ChimerDB4LIHCTCGA-ZS-A9CE-01AHPchr16

72094669

+C3chr19

6677979

-


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Fusion Gene ORF analysis for HP-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
3UTR-3CDSENST00000562526ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
3UTR-3CDSENST00000562526ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
3UTR-5UTRENST00000562526ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
3UTR-5UTRENST00000562526ENST00000599668HPchr16

72094669

+C3chr19

6677979

-
5CDS-5UTRENST00000355906ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
5CDS-5UTRENST00000355906ENST00000599668HPchr16

72094669

+C3chr19

6677979

-
5CDS-5UTRENST00000357763ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
5CDS-5UTRENST00000357763ENST00000599668HPchr16

72094669

+C3chr19

6677979

-
5CDS-5UTRENST00000398131ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
5CDS-5UTRENST00000398131ENST00000599668HPchr16

72094669

+C3chr19

6677979

-
5CDS-5UTRENST00000565574ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
5CDS-5UTRENST00000565574ENST00000599668HPchr16

72094669

+C3chr19

6677979

-
5CDS-5UTRENST00000570083ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
5CDS-5UTRENST00000570083ENST00000599668HPchr16

72094669

+C3chr19

6677979

-
Frame-shiftENST00000355906ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
Frame-shiftENST00000355906ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
Frame-shiftENST00000398131ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
Frame-shiftENST00000398131ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
Frame-shiftENST00000565574ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
Frame-shiftENST00000565574ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
In-frameENST00000357763ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
In-frameENST00000357763ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
In-frameENST00000570083ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
In-frameENST00000570083ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
intron-3CDSENST00000355906ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-3CDSENST00000357763ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-3CDSENST00000398131ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-3CDSENST00000562526ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-3CDSENST00000565574ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-3CDSENST00000569639ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
intron-3CDSENST00000569639ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-3CDSENST00000569639ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
intron-3CDSENST00000570083ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000355906ENST00000599668HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000357763ENST00000599668HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000398131ENST00000599668HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000562526ENST00000599668HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000565574ENST00000599668HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000569639ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
intron-5UTRENST00000569639ENST00000599668HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000569639ENST00000599668HPchr16

72094669

+C3chr19

6677979

-
intron-5UTRENST00000570083ENST00000599668HPchr16

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)
ENST00000570083HPchr1672094660+ENST00000245907C3chr196677988-894620444842132
ENST00000357763HPchr1672094660+ENST00000245907C3chr196677988-110683227617196
ENST00000570083HPchr1672094669+ENST00000245907C3chr196677979-876611435824129
ENST00000357763HPchr1672094669+ENST00000245907C3chr196677979-108882327608193

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
ENST00000570083ENST00000245907HPchr1672094660+C3chr196677988-0.0740142760.9259857
ENST00000357763ENST00000245907HPchr1672094660+C3chr196677988-0.0076534980.9923465
ENST00000570083ENST00000245907HPchr1672094669+C3chr196677979-0.076953010.923047
ENST00000357763ENST00000245907HPchr1672094669+C3chr196677979-0.008510410.99148965

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Fusion Genomic Features for HP-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.
genomic feature

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Fusion Protein Features for HP-C3


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/chr16:72094660/chr19:6677988)
- 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
HP

P00738

.
FUNCTION: As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine. Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent kidney damage. Haptoglobin also acts as an antioxidant, has antibacterial activity, and plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidly cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal degradation pathway. {ECO:0000269|PubMed:21248165}.; FUNCTION: The uncleaved form of allele alpha-2 (2-2), known as zonulin, plays a role in intestinal permeability, allowing intercellular tight junction disassembly, and controlling the equilibrium between tolerance and immunity to non-self antigens. {ECO:0000269|PubMed:21248165}.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}.

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
TgeneC3chr16:72094660chr19:6677988ENST000002459070411518_166101664.0DomainNTR
TgeneC3chr16:72094660chr19:6677988ENST00000245907041693_72801664.0DomainAnaphylatoxin-like
TgeneC3chr16:72094669chr19:6677979ENST000002459070411518_166101664.0DomainNTR
TgeneC3chr16:72094669chr19:6677979ENST00000245907041693_72801664.0DomainAnaphylatoxin-like

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHPchr16:72094660chr19:6677988ENST00000355906+17162_4040407.0DomainPeptidase S1
HgeneHPchr16:72094660chr19:6677988ENST00000355906+1731_880407.0DomainSushi 1
HgeneHPchr16:72094660chr19:6677988ENST00000355906+1790_1470407.0DomainSushi 2
HgeneHPchr16:72094660chr19:6677988ENST00000398131+15162_4040348.0DomainPeptidase S1
HgeneHPchr16:72094660chr19:6677988ENST00000398131+1531_880348.0DomainSushi 1
HgeneHPchr16:72094660chr19:6677988ENST00000398131+1590_1470348.0DomainSushi 2
HgeneHPchr16:72094660chr19:6677988ENST00000565574+15162_4040348.0DomainPeptidase S1
HgeneHPchr16:72094660chr19:6677988ENST00000565574+1531_880348.0DomainSushi 1
HgeneHPchr16:72094660chr19:6677988ENST00000565574+1590_1470348.0DomainSushi 2
HgeneHPchr16:72094660chr19:6677988ENST00000570083+15162_4040348.0DomainPeptidase S1
HgeneHPchr16:72094660chr19:6677988ENST00000570083+1531_880348.0DomainSushi 1
HgeneHPchr16:72094660chr19:6677988ENST00000570083+1590_1470348.0DomainSushi 2
HgeneHPchr16:72094669chr19:6677979ENST00000355906+17162_4040407.0DomainPeptidase S1
HgeneHPchr16:72094669chr19:6677979ENST00000355906+1731_880407.0DomainSushi 1
HgeneHPchr16:72094669chr19:6677979ENST00000355906+1790_1470407.0DomainSushi 2
HgeneHPchr16:72094669chr19:6677979ENST00000398131+15162_4040348.0DomainPeptidase S1
HgeneHPchr16:72094669chr19:6677979ENST00000398131+1531_880348.0DomainSushi 1
HgeneHPchr16:72094669chr19:6677979ENST00000398131+1590_1470348.0DomainSushi 2
HgeneHPchr16:72094669chr19:6677979ENST00000565574+15162_4040348.0DomainPeptidase S1
HgeneHPchr16:72094669chr19:6677979ENST00000565574+1531_880348.0DomainSushi 1
HgeneHPchr16:72094669chr19:6677979ENST00000565574+1590_1470348.0DomainSushi 2
HgeneHPchr16:72094669chr19:6677979ENST00000570083+15162_4040348.0DomainPeptidase S1
HgeneHPchr16:72094669chr19:6677979ENST00000570083+1531_880348.0DomainSushi 1
HgeneHPchr16:72094669chr19:6677979ENST00000570083+1590_1470348.0DomainSushi 2


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Fusion Gene Sequence for HP-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.
>37485_37485_1_HP-C3_HP_chr16_72094660_ENST00000357763_C3_chr19_6677988_ENST00000245907_length(transcript)=1106nt_BP=832nt
GCTCTTCCAGAGGCAAGACCAACCAAGATGAGTGCCCTGGGAGCTGTCATTGCCCTCCTGCTCTGGGGACAGCTTTTTGCAGTGGACTCA
GGCAATGATGTCACGGATATCGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTGCACATGGCTATGTGGAGCACTCGGTTCGCTACCAG
TGTAAGAACTACTACAAACTGCGCACAGAAGGAGATGGAGTATACACCTTAAATGATAAGAAGCAGTGGATAAATAAGGCTGTTGGAGAT
AAACTTCCTGAATGTGAAGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTGCACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGT
AAGAACTACTACAAACTGCGCACAGAAGGAGATGGGGAGGCGATGCCATGCAGCCTACCTCATGTAAATCTCAGAGTCACATTTACATCT
CCAGCAGATGTGGGAAAAGAAGGAATGCTGATGATGATGTCACCCTCACCTAGAGTGTACACCTTAAACAATGAGAAGCAGTGGATAAAT
AAGGCTGTTGGAGATAAACTTCCTGAATGTGAAGCAGGAGGAGGACACCTGGTATGCGACTGGGATCTTAAGCTTTGATAAGAGCTGTGC
TGTGGCTGAGTATGGTGTGTATGTGAAGGTGACTTCCATCCAGGACTGGGTTCAGAAGACCATAGCTGAGAACTAATGCAAGGCTGGCCG
GAAGCCCTTGCCTGAAAGCAAGATTTCAGCCTGGAAGAGGGCAAAGTGGACGGGAGTGGACAGGAGTGGATGCGATAAGATGTGGTTTGA
AGCTGATGGGTGCCAGCCCTGCGAGGAGGACGAATGCCAAGACGAAGAGAACCAGAAACAATGCCAGGACCTCGGCGCCTTCACCGAGAG
CATGGTTGTCTTTGGGTGCCCCAACTGACCACACCCCCATTCCCCCACTCCAGATAAAGCTTCAGTTATATCTCACGTGTCTGGAGTTCT
TTGCCAAGAGGGAGAGGCTGAAATCCCCAGCCGCCTCACCTGCAGCTCAGCTCCATCCTACTTGAAACCTCACCTGTTCCCACCGCATTT

>37485_37485_1_HP-C3_HP_chr16_72094660_ENST00000357763_C3_chr19_6677988_ENST00000245907_length(amino acids)=196AA_BP=
MSALGAVIALLLWGQLFAVDSGNDVTDIADDGCPKPPEIAHGYVEHSVRYQCKNYYKLRTEGDGVYTLNDKKQWINKAVGDKLPECEADD
GCPKPPEIAHGYVEHSVRYQCKNYYKLRTEGDGEAMPCSLPHVNLRVTFTSPADVGKEGMLMMMSPSPRVYTLNNEKQWINKAVGDKLPE

--------------------------------------------------------------
>37485_37485_2_HP-C3_HP_chr16_72094660_ENST00000570083_C3_chr19_6677988_ENST00000245907_length(transcript)=894nt_BP=620nt
AGCATAAAAAGACCAGCAGATGCCCCACAGCACTGCTCTTCCAGAGGCAAGACCAACCAAGATGAGTGCCCTGGGAGCTGTCATTGCCCT
CCTGCTCTGGGGACAGCTTTTTGCAGTGGACTCAGGCAATGATGTCACGGATATCGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTGC
ACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGTAAGAACTACTACAAACTGCGCACAGAAGGAGATGGAGTGTACACCTTAAACAA
TGAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAATGTGAAGCAGGAGGAGGACACCTGGTATGCGACTGGGATCTTAA
GCTTTGATAAGAGCTGTGCTGTGGCTGAGTATGGTGTGTATGTGAAGGTGACTTCCATCCAGGACTGGGTTCAGAAGACCATAGCTGAGA
ACTAATGCAAGGCTGGCCGGAAGCCCTTGCCTGAAAGCAAGATTTCAGCCTGGAAGAGGGCAAAGTGGACGGGAGTGGACAGGAGTGGAT
GCGATAAGATGTGGTTTGAAGCTGATGGGTGCCAGCCCTGCATTGCTGAGTCAATCAATAAAGAGCTTTCTTTTGACCCAGAGGAGGACG
AATGCCAAGACGAAGAGAACCAGAAACAATGCCAGGACCTCGGCGCCTTCACCGAGAGCATGGTTGTCTTTGGGTGCCCCAACTGACCAC
ACCCCCATTCCCCCACTCCAGATAAAGCTTCAGTTATATCTCACGTGTCTGGAGTTCTTTGCCAAGAGGGAGAGGCTGAAATCCCCAGCC

>37485_37485_2_HP-C3_HP_chr16_72094660_ENST00000570083_C3_chr19_6677988_ENST00000245907_length(amino acids)=132AA_BP=59
MRTNARLAGSPCLKARFQPGRGQSGREWTGVDAIRCGLKLMGASPALLSQSIKSFLLTQRRTNAKTKRTRNNARTSAPSPRAWLSLGAPT

--------------------------------------------------------------
>37485_37485_3_HP-C3_HP_chr16_72094669_ENST00000357763_C3_chr19_6677979_ENST00000245907_length(transcript)=1088nt_BP=823nt
GCTCTTCCAGAGGCAAGACCAACCAAGATGAGTGCCCTGGGAGCTGTCATTGCCCTCCTGCTCTGGGGACAGCTTTTTGCAGTGGACTCA
GGCAATGATGTCACGGATATCGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTGCACATGGCTATGTGGAGCACTCGGTTCGCTACCAG
TGTAAGAACTACTACAAACTGCGCACAGAAGGAGATGGAGTATACACCTTAAATGATAAGAAGCAGTGGATAAATAAGGCTGTTGGAGAT
AAACTTCCTGAATGTGAAGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTGCACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGT
AAGAACTACTACAAACTGCGCACAGAAGGAGATGGGGAGGCGATGCCATGCAGCCTACCTCATGTAAATCTCAGAGTCACATTTACATCT
CCAGCAGATGTGGGAAAAGAAGGAATGCTGATGATGATGTCACCCTCACCTAGAGTGTACACCTTAAACAATGAGAAGCAGTGGATAAAT
AAGGCTGTTGGAGATAAACTTCCTGAATGTGAAGCAGACCTGGTATGCGACTGGGATCTTAAGCTTTGATAAGAGCTGTGCTGTGGCTGA
GTATGGTGTGTATGTGAAGGTGACTTCCATCCAGGACTGGGTTCAGAAGACCATAGCTGAGAACTAATGCAAGGCTGGCCGGAAGCCCTT
GCCTGAAAGCAAGATTTCAGCCTGGAAGAGGGCAAAGTGGACGGGAGTGGACAGGAGTGGATGCGATAAGATGTGGTTTGAAGCTGATGG
GTGCCAGCCCTGCGAATGCCAAGACGAAGAGAACCAGAAACAATGCCAGGACCTCGGCGCCTTCACCGAGAGCATGGTTGTCTTTGGGTG
CCCCAACTGACCACACCCCCATTCCCCCACTCCAGATAAAGCTTCAGTTATATCTCACGTGTCTGGAGTTCTTTGCCAAGAGGGAGAGGC
TGAAATCCCCAGCCGCCTCACCTGCAGCTCAGCTCCATCCTACTTGAAACCTCACCTGTTCCCACCGCATTTTCTCCTGGCGTTCGCCTG

>37485_37485_3_HP-C3_HP_chr16_72094669_ENST00000357763_C3_chr19_6677979_ENST00000245907_length(amino acids)=193AA_BP=
MSALGAVIALLLWGQLFAVDSGNDVTDIADDGCPKPPEIAHGYVEHSVRYQCKNYYKLRTEGDGVYTLNDKKQWINKAVGDKLPECEADD
GCPKPPEIAHGYVEHSVRYQCKNYYKLRTEGDGEAMPCSLPHVNLRVTFTSPADVGKEGMLMMMSPSPRVYTLNNEKQWINKAVGDKLPE

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>37485_37485_4_HP-C3_HP_chr16_72094669_ENST00000570083_C3_chr19_6677979_ENST00000245907_length(transcript)=876nt_BP=611nt
AGCATAAAAAGACCAGCAGATGCCCCACAGCACTGCTCTTCCAGAGGCAAGACCAACCAAGATGAGTGCCCTGGGAGCTGTCATTGCCCT
CCTGCTCTGGGGACAGCTTTTTGCAGTGGACTCAGGCAATGATGTCACGGATATCGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTGC
ACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGTAAGAACTACTACAAACTGCGCACAGAAGGAGATGGAGTGTACACCTTAAACAA
TGAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAATGTGAAGCAGACCTGGTATGCGACTGGGATCTTAAGCTTTGATA
AGAGCTGTGCTGTGGCTGAGTATGGTGTGTATGTGAAGGTGACTTCCATCCAGGACTGGGTTCAGAAGACCATAGCTGAGAACTAATGCA
AGGCTGGCCGGAAGCCCTTGCCTGAAAGCAAGATTTCAGCCTGGAAGAGGGCAAAGTGGACGGGAGTGGACAGGAGTGGATGCGATAAGA
TGTGGTTTGAAGCTGATGGGTGCCAGCCCTGCATTGCTGAGTCAATCAATAAAGAGCTTTCTTTTGACCCAGAATGCCAAGACGAAGAGA
ACCAGAAACAATGCCAGGACCTCGGCGCCTTCACCGAGAGCATGGTTGTCTTTGGGTGCCCCAACTGACCACACCCCCATTCCCCCACTC
CAGATAAAGCTTCAGTTATATCTCACGTGTCTGGAGTTCTTTGCCAAGAGGGAGAGGCTGAAATCCCCAGCCGCCTCACCTGCAGCTCAG

>37485_37485_4_HP-C3_HP_chr16_72094669_ENST00000570083_C3_chr19_6677979_ENST00000245907_length(amino acids)=129AA_BP=59
MRTNARLAGSPCLKARFQPGRGQSGREWTGVDAIRCGLKLMGASPALLSQSIKSFLLTQNAKTKRTRNNARTSAPSPRAWLSLGAPTDHT

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Fusion Gene PPI Analysis for HP-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
TgeneC3chr16:72094660chr19:6677988ENST000002459070411634_165901664.0CFP/properdin
TgeneC3chr16:72094669chr19:6677979ENST000002459070411634_165901664.0CFP/properdin


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneHPchr16:72094660chr19:6677988ENST00000355906+17318_3230407.0CD163
HgeneHPchr16:72094660chr19:6677988ENST00000398131+15318_3230348.0CD163
HgeneHPchr16:72094660chr19:6677988ENST00000565574+15318_3230348.0CD163
HgeneHPchr16:72094660chr19:6677988ENST00000570083+15318_3230348.0CD163
HgeneHPchr16:72094669chr19:6677979ENST00000355906+17318_3230407.0CD163
HgeneHPchr16:72094669chr19:6677979ENST00000398131+15318_3230348.0CD163
HgeneHPchr16:72094669chr19:6677979ENST00000565574+15318_3230348.0CD163
HgeneHPchr16:72094669chr19:6677979ENST00000570083+15318_3230348.0CD163


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 HP-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
HgeneHPP00738DB14548Zinc sulfate, unspecified formBinderSmall moleculeApproved|Experimental
HgeneHPP00738DB14533Zinc chlorideBinderSmall moleculeApproved|Investigational

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Related Diseases for HP-C3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHPC0041696Unipolar Depression4PSYGENET
HgeneHPC0011570Mental Depression3PSYGENET
HgeneHPC0011581Depressive disorder3PSYGENET
HgeneHPC0027051Myocardial Infarction3CTD_human
HgeneHPC1269683Major Depressive Disorder3PSYGENET
HgeneHPC0024530Malaria2CTD_human
HgeneHPC0525045Mood Disorders2PSYGENET
HgeneHPC0001723Affective Disorders, Psychotic1PSYGENET
HgeneHPC0002871Anemia1CTD_human
HgeneHPC0002895Anemia, Sickle Cell1CTD_human
HgeneHPC0003864Arthritis1CTD_human
HgeneHPC0004153Atherosclerosis1CTD_human
HgeneHPC0004364Autoimmune Diseases1CTD_human
HgeneHPC0006142Malignant neoplasm of breast1CTD_human
HgeneHPC0007222Cardiovascular Diseases1CTD_human
HgeneHPC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
HgeneHPC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneHPC0011875Diabetic Angiopathies1CTD_human
HgeneHPC0013221Drug toxicity1CTD_human
HgeneHPC0016479Food Poisoning1CTD_human
HgeneHPC0017416Genital Neoplasms, Female1CTD_human
HgeneHPC0018995Hemochromatosis1CTD_human
HgeneHPC0019054Hemolysis (disorder)1CTD_human
HgeneHPC0019163Hepatitis B1CTD_human
HgeneHPC0019693HIV Infections1CTD_human
HgeneHPC0020517Hypersensitivity1CTD_human
HgeneHPC0020538Hypertensive disease1CTD_human
HgeneHPC0022660Kidney Failure, Acute1CTD_human
HgeneHPC0023418leukemia1CTD_human
HgeneHPC0025945Microangiopathy, Diabetic1CTD_human
HgeneHPC0035305Retinal Detachment1CTD_human
HgeneHPC0036341Schizophrenia1CTD_human
HgeneHPC0041296Tuberculosis1CTD_human
HgeneHPC0041755Adverse reaction to drug1CTD_human
HgeneHPC0085397Pasteurellaceae Infections1CTD_human
HgeneHPC0162323Polyarthritis1CTD_human
HgeneHPC0205734Diabetes, Autoimmune1CTD_human
HgeneHPC0235574Intravascular hemolysis1CTD_human
HgeneHPC0242339Dyslipidemias1CTD_human
HgeneHPC0312854Extravascular Hemolysis1CTD_human
HgeneHPC0339546Retinal Pigment Epithelial Detachment1CTD_human
HgeneHPC0341934Transient hypertension of pregnancy1CTD_human
HgeneHPC0342257Complications of Diabetes Mellitus1CTD_human
HgeneHPC0342302Brittle diabetes1CTD_human
HgeneHPC0392514Hereditary hemochromatosis1CTD_human
HgeneHPC0524909Hepatitis B, Chronic1CTD_human
HgeneHPC0524910Hepatitis C, Chronic1CTD_human
HgeneHPC0598784Dyslipoproteinemias1CTD_human
HgeneHPC0678222Breast Carcinoma1CTD_human
HgeneHPC0679360Foodborne Disease1CTD_human
HgeneHPC0852036Pregnancy associated hypertension1CTD_human
HgeneHPC1257931Mammary Neoplasms, Human1CTD_human
HgeneHPC1458155Mammary Neoplasms1CTD_human
HgeneHPC1527304Allergic Reaction1CTD_human
HgeneHPC1563937Atherogenesis1CTD_human
HgeneHPC1565662Acute Kidney Insufficiency1CTD_human
HgeneHPC2609414Acute kidney injury1CTD_human
HgeneHPC3279786ANHAPTOGLOBINEMIA1UNIPROT
HgeneHPC3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
HgeneHPC4505456HIV Coinfection1CTD_human
HgeneHPC4554117Diabetes Mellitus, Sudden-Onset1CTD_human
HgeneHPC4704874Mammary Carcinoma, Human1CTD_human
TgeneC3151071COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0242383Age related macular degeneration4CTD_human;GENOMICS_ENGLAND
TgeneC2752037HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 54GENOMICS_ENGLAND;UNIPROT
TgeneC1969651Macular Degeneration, Age-Related, 92CTD_human;UNIPROT
TgeneC0003257Antibody Deficiency Syndrome1CTD_human
TgeneC0007787Transient Ischemic Attack1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0017665Membranous glomerulonephritis1CTD_human
TgeneC0019061Hemolytic-Uremic Syndrome1GENOMICS_ENGLAND
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0021051Immunologic Deficiency Syndromes1CTD_human
TgeneC0021655Insulin Resistance1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0030524Paratuberculosis1CTD_human
TgeneC0030807Pemphigus1CTD_human
TgeneC0030809Pemphigus Vulgaris1CTD_human
TgeneC0034152Henoch-Schoenlein Purpura1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0042386Vasculitis, Hemorrhagic1CTD_human
TgeneC0086445Idiopathic Membranous Glomerulonephritis1CTD_human
TgeneC0086922Rheumatoid Purpura1CTD_human
TgeneC0238281Middle Cerebral Artery Syndrome1CTD_human
TgeneC0242461Purpura, Nonthrombocytopenic1CTD_human
TgeneC0263313Pemphigus Foliaceus1CTD_human
TgeneC0272242Complement deficiency disease1GENOMICS_ENGLAND
TgeneC0376362Purpura Hemorrhagica1CTD_human
TgeneC0472381Posterior Circulation Transient Ischemic Attack1CTD_human
TgeneC0740376Middle Cerebral Artery Thrombosis1CTD_human
TgeneC0740391Middle Cerebral Artery Occlusion1CTD_human
TgeneC0740392Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751019Carotid Circulation Transient Ischemic Attack1CTD_human
TgeneC0751020Transient Ischemic Attack, Vertebrobasilar Circulation1CTD_human
TgeneC0751021Crescendo Transient Ischemic Attacks1CTD_human
TgeneC0751022Brain Stem Ischemia, Transient1CTD_human
TgeneC0751845Middle Cerebral Artery Embolus1CTD_human
TgeneC0751846Left Middle Cerebral Artery Infarction1CTD_human
TgeneC0751847Embolic Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751848Thrombotic Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751849Right Middle Cerebral Artery Infarction1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC0917805Transient Cerebral Ischemia1CTD_human
TgeneC0920563Insulin Sensitivity1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1332655Complement component 3 deficiency1GENOMICS_ENGLAND
TgeneC1527335Transient Ischemic Attack, Anterior Circulation1CTD_human
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC1704378Heymann Nephritis1CTD_human
TgeneC2609414Acute kidney injury1CTD_human
TgeneC2931788Atypical Hemolytic Uremic Syndrome1CTD_human;GENOMICS_ENGLAND
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4087273C3 glomerulopathy1GENOMICS_ENGLAND
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human