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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:37315)

Fusion Gene Summary for HP-C3

check button Fusion gene summary
Fusion gene informationFusion gene name: HP-C3
Fusion gene ID: 37315
HgeneTgene
Gene symbol

HP

C3

Gene ID

10395

718

Gene nameDLC1 Rho GTPase activating proteincomplement C3
SynonymsARHGAP7|HP|STARD12|p122-RhoGAPAHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62p
Cytomap

8p22

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionrho GTPase-activating protein 7Rho-GTPase-activating protein 7START domain-containing protein 12StAR-related lipid transfer (START) domain containing 12deleted in liver cancer 1 proteindeleted in liver cancer 1 variant 2deleted in liver cancer variacomplement 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 geneENST00000570083, ENST00000355906, 
ENST00000398131, ENST00000569639, 
ENST00000357763, ENST00000562526, 
ENST00000565574, 		ENST00000245907, 
ENST00000599668, 
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 breakpointC3(6694442)-HP(72093016), # samples:1
HP(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 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:0006915

apoptotic process

17292327

HgeneHP

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

17888903

HgeneHP

GO:0008285

negative regulation of cell proliferation

12545165|17932950

HgeneHP

GO:0030336

negative regulation of cell migration

17932950|19158340

HgeneHP

GO:0035307

positive regulation of protein dephosphorylation

17292327

HgeneHP

GO:0051497

negative regulation of stress fiber assembly

17932950

HgeneHP

GO:0051895

negative regulation of focal adhesion assembly

19158340

HgeneHP

GO:1900119

positive regulation of execution phase of apoptosis

17888903

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.

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-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
In-frameENST00000570083ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
5CDS-5UTRENST00000570083ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
Frame-shiftENST00000355906ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
5CDS-5UTRENST00000355906ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
Frame-shiftENST00000398131ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
5CDS-5UTRENST00000398131ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
intron-3CDSENST00000569639ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
intron-5UTRENST00000569639ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
In-frameENST00000357763ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
5CDS-5UTRENST00000357763ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
3UTR-3CDSENST00000562526ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
3UTR-5UTRENST00000562526ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
Frame-shiftENST00000565574ENST00000245907HPchr16

72094660

+C3chr19

6677988

-
5CDS-5UTRENST00000565574ENST00000599668HPchr16

72094660

+C3chr19

6677988

-
intron-3CDSENST00000570083ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000570083ENST00000599668HPchr16

72110851

+C3chr19

6677988

-
intron-3CDSENST00000355906ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000355906ENST00000599668HPchr16

72110851

+C3chr19

6677988

-
intron-3CDSENST00000398131ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000398131ENST00000599668HPchr16

72110851

+C3chr19

6677988

-
intron-3CDSENST00000569639ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000569639ENST00000599668HPchr16

72110851

+C3chr19

6677988

-
intron-3CDSENST00000357763ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000357763ENST00000599668HPchr16

72110851

+C3chr19

6677988

-
intron-3CDSENST00000562526ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000562526ENST00000599668HPchr16

72110851

+C3chr19

6677988

-
intron-3CDSENST00000565574ENST00000245907HPchr16

72110851

+C3chr19

6677988

-
intron-5UTRENST00000565574ENST00000599668HPchr16

72110851

+C3chr19

6677988

-
In-frameENST00000570083ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
5CDS-5UTRENST00000570083ENST00000599668HPchr16

72094669

+C3chr19

6677979

-
Frame-shiftENST00000355906ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
5CDS-5UTRENST00000355906ENST00000599668HPchr16

72094669

+C3chr19

6677979

-
Frame-shiftENST00000398131ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
5CDS-5UTRENST00000398131ENST00000599668HPchr16

72094669

+C3chr19

6677979

-
intron-3CDSENST00000569639ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
intron-5UTRENST00000569639ENST00000599668HPchr16

72094669

+C3chr19

6677979

-
In-frameENST00000357763ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
5CDS-5UTRENST00000357763ENST00000599668HPchr16

72094669

+C3chr19

6677979

-
3UTR-3CDSENST00000562526ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
3UTR-5UTRENST00000562526ENST00000599668HPchr16

72094669

+C3chr19

6677979

-
Frame-shiftENST00000565574ENST00000245907HPchr16

72094669

+C3chr19

6677979

-
5CDS-5UTRENST00000565574ENST00000599668HPchr16

72094669

+C3chr19

6677979

-

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.

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 HP-C3


check button Go to

FGviewer for the breakpoints of 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.
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
TgeneC3chr16:72094660chr19:6677988ENST000002459070411518_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.
>In-frame_ENST00000570083_ENST00000245907_TCGA-DD-AADQ_HP_chr16_72094660_+_C3_chr19_6677988_length(transcript)=894nt_BP=620nt
AGCATAAAAAGACCAGCAGATGCCCCACAGCACTGCTCTTCCAGAGGCAAGACCAACCAAGATGAGTGCCCTGGGAGCTGTCATTGCCCT
CCTGCTCTGGGGACAGCTTTTTGCAGTGGACTCAGGCAATGATGTCACGGATATCGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTGC
ACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGTAAGAACTACTACAAACTGCGCACAGAAGGAGATGGAGTGTACACCTTAAACAA
TGAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAATGTGAAGCAGGAGGAGGACACCTGGTATGCGACTGGGATCTTAA
GCTTTGATAAGAGCTGTGCTGTGGCTGAGTATGGTGTGTATGTGAAGGTGACTTCCATCCAGGACTGGGTTCAGAAGACCATAGCTGAGA
ACTAATGCAAGGCTGGCCGGAAGCCCTTGCCTGAAAGCAAGATTTCAGCCTGGAAGAGGGCAAAGTGGACGGGAGTGGACAGGAGTGGAT
GCGATAAGATGTGGTTTGAAGCTGATGGGTGCCAGCCCTGCATTGCTGAGTCAATCAATAAAGAGCTTTCTTTTGACCCAGAGGAGGACG
AATGCCAAGACGAAGAGAACCAGAAACAATGCCAGGACCTCGGCGCCTTCACCGAGAGCATGGTTGTCTTTGGGTGCCCCAACTGACCAC
ACCCCCATTCCCCCACTCCAGATAAAGCTTCAGTTATATCTCACGTGTCTGGAGTTCTTTGCCAAGAGGGAGAGGCTGAAATCCCCAGCC

>In-frame_ENST00000570083_ENST00000245907_TCGA-DD-AADQ_HP_chr16_72094660_+_C3_chr19_6677988_length(amino acids)=132AA_start in transcript=444_stop in transcript=842
MRTNARLAGSPCLKARFQPGRGQSGREWTGVDAIRCGLKLMGASPALLSQSIKSFLLTQRRTNAKTKRTRNNARTSAPSPRAWLSLGAPT

--------------------------------------------------------------
>In-frame_ENST00000357763_ENST00000245907_TCGA-DD-AADQ_HP_chr16_72094660_+_C3_chr19_6677988_length(transcript)=1106nt_BP=832nt
GCTCTTCCAGAGGCAAGACCAACCAAGATGAGTGCCCTGGGAGCTGTCATTGCCCTCCTGCTCTGGGGACAGCTTTTTGCAGTGGACTCA
GGCAATGATGTCACGGATATCGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTGCACATGGCTATGTGGAGCACTCGGTTCGCTACCAG
TGTAAGAACTACTACAAACTGCGCACAGAAGGAGATGGAGTATACACCTTAAATGATAAGAAGCAGTGGATAAATAAGGCTGTTGGAGAT
AAACTTCCTGAATGTGAAGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTGCACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGT
AAGAACTACTACAAACTGCGCACAGAAGGAGATGGGGAGGCGATGCCATGCAGCCTACCTCATGTAAATCTCAGAGTCACATTTACATCT
CCAGCAGATGTGGGAAAAGAAGGAATGCTGATGATGATGTCACCCTCACCTAGAGTGTACACCTTAAACAATGAGAAGCAGTGGATAAAT
AAGGCTGTTGGAGATAAACTTCCTGAATGTGAAGCAGGAGGAGGACACCTGGTATGCGACTGGGATCTTAAGCTTTGATAAGAGCTGTGC
TGTGGCTGAGTATGGTGTGTATGTGAAGGTGACTTCCATCCAGGACTGGGTTCAGAAGACCATAGCTGAGAACTAATGCAAGGCTGGCCG
GAAGCCCTTGCCTGAAAGCAAGATTTCAGCCTGGAAGAGGGCAAAGTGGACGGGAGTGGACAGGAGTGGATGCGATAAGATGTGGTTTGA
AGCTGATGGGTGCCAGCCCTGCGAGGAGGACGAATGCCAAGACGAAGAGAACCAGAAACAATGCCAGGACCTCGGCGCCTTCACCGAGAG
CATGGTTGTCTTTGGGTGCCCCAACTGACCACACCCCCATTCCCCCACTCCAGATAAAGCTTCAGTTATATCTCACGTGTCTGGAGTTCT
TTGCCAAGAGGGAGAGGCTGAAATCCCCAGCCGCCTCACCTGCAGCTCAGCTCCATCCTACTTGAAACCTCACCTGTTCCCACCGCATTT

>In-frame_ENST00000357763_ENST00000245907_TCGA-DD-AADQ_HP_chr16_72094660_+_C3_chr19_6677988_length(amino acids)=196AA_start in transcript=27_stop in transcript=617
MSALGAVIALLLWGQLFAVDSGNDVTDIADDGCPKPPEIAHGYVEHSVRYQCKNYYKLRTEGDGVYTLNDKKQWINKAVGDKLPECEADD
GCPKPPEIAHGYVEHSVRYQCKNYYKLRTEGDGEAMPCSLPHVNLRVTFTSPADVGKEGMLMMMSPSPRVYTLNNEKQWINKAVGDKLPE

--------------------------------------------------------------
>In-frame_ENST00000570083_ENST00000245907_TCGA-ZS-A9CE-01A_HP_chr16_72094669_+_C3_chr19_6677979_length(transcript)=876nt_BP=611nt
AGCATAAAAAGACCAGCAGATGCCCCACAGCACTGCTCTTCCAGAGGCAAGACCAACCAAGATGAGTGCCCTGGGAGCTGTCATTGCCCT
CCTGCTCTGGGGACAGCTTTTTGCAGTGGACTCAGGCAATGATGTCACGGATATCGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTGC
ACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGTAAGAACTACTACAAACTGCGCACAGAAGGAGATGGAGTGTACACCTTAAACAA
TGAGAAGCAGTGGATAAATAAGGCTGTTGGAGATAAACTTCCTGAATGTGAAGCAGACCTGGTATGCGACTGGGATCTTAAGCTTTGATA
AGAGCTGTGCTGTGGCTGAGTATGGTGTGTATGTGAAGGTGACTTCCATCCAGGACTGGGTTCAGAAGACCATAGCTGAGAACTAATGCA
AGGCTGGCCGGAAGCCCTTGCCTGAAAGCAAGATTTCAGCCTGGAAGAGGGCAAAGTGGACGGGAGTGGACAGGAGTGGATGCGATAAGA
TGTGGTTTGAAGCTGATGGGTGCCAGCCCTGCATTGCTGAGTCAATCAATAAAGAGCTTTCTTTTGACCCAGAATGCCAAGACGAAGAGA
ACCAGAAACAATGCCAGGACCTCGGCGCCTTCACCGAGAGCATGGTTGTCTTTGGGTGCCCCAACTGACCACACCCCCATTCCCCCACTC
CAGATAAAGCTTCAGTTATATCTCACGTGTCTGGAGTTCTTTGCCAAGAGGGAGAGGCTGAAATCCCCAGCCGCCTCACCTGCAGCTCAG

>In-frame_ENST00000570083_ENST00000245907_TCGA-ZS-A9CE-01A_HP_chr16_72094669_+_C3_chr19_6677979_length(amino acids)=129AA_start in transcript=435_stop in transcript=824
MRTNARLAGSPCLKARFQPGRGQSGREWTGVDAIRCGLKLMGASPALLSQSIKSFLLTQNAKTKRTRNNARTSAPSPRAWLSLGAPTDHT

--------------------------------------------------------------
>In-frame_ENST00000357763_ENST00000245907_TCGA-ZS-A9CE-01A_HP_chr16_72094669_+_C3_chr19_6677979_length(transcript)=1088nt_BP=823nt
GCTCTTCCAGAGGCAAGACCAACCAAGATGAGTGCCCTGGGAGCTGTCATTGCCCTCCTGCTCTGGGGACAGCTTTTTGCAGTGGACTCA
GGCAATGATGTCACGGATATCGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTGCACATGGCTATGTGGAGCACTCGGTTCGCTACCAG
TGTAAGAACTACTACAAACTGCGCACAGAAGGAGATGGAGTATACACCTTAAATGATAAGAAGCAGTGGATAAATAAGGCTGTTGGAGAT
AAACTTCCTGAATGTGAAGCAGATGACGGCTGCCCGAAGCCCCCCGAGATTGCACATGGCTATGTGGAGCACTCGGTTCGCTACCAGTGT
AAGAACTACTACAAACTGCGCACAGAAGGAGATGGGGAGGCGATGCCATGCAGCCTACCTCATGTAAATCTCAGAGTCACATTTACATCT
CCAGCAGATGTGGGAAAAGAAGGAATGCTGATGATGATGTCACCCTCACCTAGAGTGTACACCTTAAACAATGAGAAGCAGTGGATAAAT
AAGGCTGTTGGAGATAAACTTCCTGAATGTGAAGCAGACCTGGTATGCGACTGGGATCTTAAGCTTTGATAAGAGCTGTGCTGTGGCTGA
GTATGGTGTGTATGTGAAGGTGACTTCCATCCAGGACTGGGTTCAGAAGACCATAGCTGAGAACTAATGCAAGGCTGGCCGGAAGCCCTT
GCCTGAAAGCAAGATTTCAGCCTGGAAGAGGGCAAAGTGGACGGGAGTGGACAGGAGTGGATGCGATAAGATGTGGTTTGAAGCTGATGG
GTGCCAGCCCTGCGAATGCCAAGACGAAGAGAACCAGAAACAATGCCAGGACCTCGGCGCCTTCACCGAGAGCATGGTTGTCTTTGGGTG
CCCCAACTGACCACACCCCCATTCCCCCACTCCAGATAAAGCTTCAGTTATATCTCACGTGTCTGGAGTTCTTTGCCAAGAGGGAGAGGC
TGAAATCCCCAGCCGCCTCACCTGCAGCTCAGCTCCATCCTACTTGAAACCTCACCTGTTCCCACCGCATTTTCTCCTGGCGTTCGCCTG

>In-frame_ENST00000357763_ENST00000245907_TCGA-ZS-A9CE-01A_HP_chr16_72094669_+_C3_chr19_6677979_length(amino acids)=193AA_start in transcript=27_stop in transcript=608
MSALGAVIALLLWGQLFAVDSGNDVTDIADDGCPKPPEIAHGYVEHSVRYQCKNYYKLRTEGDGVYTLNDKKQWINKAVGDKLPECEADD
GCPKPPEIAHGYVEHSVRYQCKNYYKLRTEGDGEAMPCSLPHVNLRVTFTSPADVGKEGMLMMMSPSPRVYTLNNEKQWINKAVGDKLPE

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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

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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
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